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Entry
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- #165550 - OPTIC NERVE HYPOPLASIA, BILATERAL
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- OMIM
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<span class="h4">#165550</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/165550"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(OPTIC NERVE HYPOPLASIA, BILATERAL) OR (PAX6)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9040" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=165550[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111531" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/165550" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000743/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111531" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ICD10CM:</strong> H47.033<br />
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<strong>DO:</strong> 0111531<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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165550
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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OPTIC NERVE HYPOPLASIA, BILATERAL
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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OPTIC NERVE APLASIA, BILATERAL, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
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Gene/Locus <br /> MIM number
|
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</th>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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Optic nerve hypoplasia
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<a href="/entry/165550"> 165550 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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PAX6
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<a href="/entry/607108"> 607108 </a>
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- Optic nerve hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95499004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95499004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.039</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338502&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338502</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000609</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000609</a>]</span><br /> - Poor visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/170728008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">170728008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0580104&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0580104</a>, <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> - Small discs<br /> - Concentric peripapillary halos<br /> - Wandering eye movements<br />
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that bilateral optic nerve hypoplasia and aplasia can be caused by heterozygous mutation in the PAX6 gene (<a href="/entry/607108">607108</a>) on chromosome 11p13.</p>
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<p>Optic nerve hypoplasia is the most common congenital anomaly of the optic disc (<a href="#2" class="mim-tip-reference" title="Birkebaek, N. H., Patel, L., Wright, N. B., Grigg, J. R., Sinha, S., Hall, C. M., Price, D. A., Lloyd, I. C., Clayton, P. E. <strong>Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.</strong> J. Clin. Endocr. Metab. 88: 5281-5286, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14602762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14602762</a>] [<a href="https://doi.org/10.1210/jc.2003-030527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14602762">Birkebaek et al., 2003</a>). It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. Hypopituitarism is a serious problem, and failure to recognize it carries a risk of adrenal crisis, hypoglycemia, and death (<a href="#3" class="mim-tip-reference" title="Brodsky, M. C., Conte, F. A., Taylor, D., Hoyt, C. S., Mrak, R. E. <strong>Sudden death in septo-optic dysplasia: report of 5 cases.</strong> Arch. Ophthal. 115: 66-70, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9006427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9006427</a>] [<a href="https://doi.org/10.1001/archopht.1997.01100150068011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9006427">Brodsky et al., 1997</a>; <a href="#4" class="mim-tip-reference" title="Cameron, F. J., Khadilkar, V. V., Stanhope, R. <strong>Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum.</strong> Europ. J. Pediat. 158: 97-102, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10048603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10048603</a>] [<a href="https://doi.org/10.1007/s004310051026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10048603">Cameron et al., 1999</a>). Septooptic dysplasia (<a href="/entry/182230">182230</a>) describes the association of optic nerve hypoplasia with absent septum pellucidum, with or without pituitary dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10048603+14602762+9006427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Hackenbruch, Y., Meerhoff, E., Besio, R., Cardoso, H. <strong>Familial bilateral optic nerve hypoplasia.</strong> Am. J. Ophthal. 79: 314-320, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1115199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1115199</a>] [<a href="https://doi.org/10.1016/0002-9394(75)90088-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1115199">Hackenbruch et al. (1975)</a> described bilateral optic nerve hypoplasia in 5 persons in 4 generations with male-to-male transmission. The affected persons had poor visual acuity, small discs, 2 concentric peripapillary halos, and wandering movements of the eyes. Two previous reports of familial occurrence, in sibs, were cited. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1115199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study group comprising 55 optic nerve hypoplasia patients, <a href="#2" class="mim-tip-reference" title="Birkebaek, N. H., Patel, L., Wright, N. B., Grigg, J. R., Sinha, S., Hall, C. M., Price, D. A., Lloyd, I. C., Clayton, P. E. <strong>Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.</strong> J. Clin. Endocr. Metab. 88: 5281-5286, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14602762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14602762</a>] [<a href="https://doi.org/10.1210/jc.2003-030527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14602762">Birkebaek et al. (2003)</a> reported that 49% had an abnormal septum pellucidum on MRI, and 64% had a hypothalamic-pituitary axis abnormality. Twenty-seven patients (49%) had endocrine dysfunction, and 23 of these had hypothalamic-pituitary axis abnormality. The frequency of endocrinopathy was higher in patients with an abnormal septum pellucidum (56%) than a normal septum pellucidum (39%). Patients were divided into 4 groups based on septum pellucidum and hypothalamic-pituitary axis appearance: (1) both normal; (2) abnormal septum pellucidum and normal hypothalamic-pituitary axis; (3) normal septum pellucidum and abnormal hypothalamic-pituitary axis; and (4) both abnormal. The frequency of multiple pituitary hormone deficiency was highest (56%) in group 4, lower (35%) in group 3, and even lower (22%) in group 2. Precocious puberty was most common in group 2. None of the patients in group 1 had endocrine dysfunction. The authors concluded that septum pellucidum and hypothalamic-pituitary axis appearances on MRI can be used to predict the likely spectrum of endocrinopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14602762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Azuma, N., Yamaguchi, Y., Handa, H., Tadokoro, K., Asaka, A., Kawase, E., Yamada, M. <strong>Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.</strong> Am. J. Hum. Genet. 72: 1565-1570, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12721955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12721955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12721955[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/375555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12721955">Azuma et al. (2003)</a> identified mutations in the PAX6 gene in patients with bilateral optic nerve hypoplasia (<a href="/entry/607108#0018">607108.0018</a>) and aplasia (<a href="/entry/607108#0020">607108.0020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12721955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Azuma, N., Yamaguchi, Y., Handa, H., Tadokoro, K., Asaka, A., Kawase, E., Yamada, M.
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<strong>Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.</strong>
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Am. J. Hum. Genet. 72: 1565-1570, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12721955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12721955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12721955[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12721955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/375555" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Birkebaek2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Birkebaek, N. H., Patel, L., Wright, N. B., Grigg, J. R., Sinha, S., Hall, C. M., Price, D. A., Lloyd, I. C., Clayton, P. E.
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<strong>Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.</strong>
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J. Clin. Endocr. Metab. 88: 5281-5286, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14602762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14602762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14602762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2003-030527" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Brodsky1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Brodsky, M. C., Conte, F. A., Taylor, D., Hoyt, C. S., Mrak, R. E.
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<strong>Sudden death in septo-optic dysplasia: report of 5 cases.</strong>
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Arch. Ophthal. 115: 66-70, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9006427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9006427</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9006427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archopht.1997.01100150068011" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Cameron1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cameron, F. J., Khadilkar, V. V., Stanhope, R.
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<strong>Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum.</strong>
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Europ. J. Pediat. 158: 97-102, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10048603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10048603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10048603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004310051026" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Hackenbruch1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hackenbruch, Y., Meerhoff, E., Besio, R., Cardoso, H.
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<strong>Familial bilateral optic nerve hypoplasia.</strong>
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Am. J. Ophthal. 79: 314-320, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1115199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1115199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1115199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9394(75)90088-4" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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John A. Phillips, III - updated : 1/10/2005
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 5/23/2003
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 08/23/2016
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/18/2016<br>alopez : 1/11/2005<br>wwang : 1/10/2005<br>wwang : 1/10/2005<br>wwang : 1/10/2005<br>mgross : 5/28/2003<br>terry : 5/23/2003<br>mimadm : 12/2/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 10/18/1986
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<span class="mim-font">
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<strong>#</strong> 165550
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<h3>
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OPTIC NERVE HYPOPLASIA, BILATERAL
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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OPTIC NERVE APLASIA, BILATERAL, INCLUDED
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<strong>ICD10CM:</strong> H47.033;
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<strong>DO:</strong> 0111531;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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11p13
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<span class="mim-font">
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Optic nerve hypoplasia
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<span class="mim-font">
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165550
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<td>
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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PAX6
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<span class="mim-font">
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607108
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that bilateral optic nerve hypoplasia and aplasia can be caused by heterozygous mutation in the PAX6 gene (607108) on chromosome 11p13.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Optic nerve hypoplasia is the most common congenital anomaly of the optic disc (Birkebaek et al., 2003). It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. Hypopituitarism is a serious problem, and failure to recognize it carries a risk of adrenal crisis, hypoglycemia, and death (Brodsky et al., 1997; Cameron et al., 1999). Septooptic dysplasia (182230) describes the association of optic nerve hypoplasia with absent septum pellucidum, with or without pituitary dysfunction. </p><p>Hackenbruch et al. (1975) described bilateral optic nerve hypoplasia in 5 persons in 4 generations with male-to-male transmission. The affected persons had poor visual acuity, small discs, 2 concentric peripapillary halos, and wandering movements of the eyes. Two previous reports of familial occurrence, in sibs, were cited. </p><p>In a study group comprising 55 optic nerve hypoplasia patients, Birkebaek et al. (2003) reported that 49% had an abnormal septum pellucidum on MRI, and 64% had a hypothalamic-pituitary axis abnormality. Twenty-seven patients (49%) had endocrine dysfunction, and 23 of these had hypothalamic-pituitary axis abnormality. The frequency of endocrinopathy was higher in patients with an abnormal septum pellucidum (56%) than a normal septum pellucidum (39%). Patients were divided into 4 groups based on septum pellucidum and hypothalamic-pituitary axis appearance: (1) both normal; (2) abnormal septum pellucidum and normal hypothalamic-pituitary axis; (3) normal septum pellucidum and abnormal hypothalamic-pituitary axis; and (4) both abnormal. The frequency of multiple pituitary hormone deficiency was highest (56%) in group 4, lower (35%) in group 3, and even lower (22%) in group 2. Precocious puberty was most common in group 2. None of the patients in group 1 had endocrine dysfunction. The authors concluded that septum pellucidum and hypothalamic-pituitary axis appearances on MRI can be used to predict the likely spectrum of endocrinopathy. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Azuma et al. (2003) identified mutations in the PAX6 gene in patients with bilateral optic nerve hypoplasia (607108.0018) and aplasia (607108.0020). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Azuma, N., Yamaguchi, Y., Handa, H., Tadokoro, K., Asaka, A., Kawase, E., Yamada, M.
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<strong>Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.</strong>
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Am. J. Hum. Genet. 72: 1565-1570, 2003.
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[PubMed: 12721955]
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[Full Text: https://doi.org/10.1086/375555]
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</p>
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<li>
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<p class="mim-text-font">
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Birkebaek, N. H., Patel, L., Wright, N. B., Grigg, J. R., Sinha, S., Hall, C. M., Price, D. A., Lloyd, I. C., Clayton, P. E.
|
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<strong>Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.</strong>
|
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J. Clin. Endocr. Metab. 88: 5281-5286, 2003.
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[PubMed: 14602762]
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[Full Text: https://doi.org/10.1210/jc.2003-030527]
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<li>
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<p class="mim-text-font">
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Brodsky, M. C., Conte, F. A., Taylor, D., Hoyt, C. S., Mrak, R. E.
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<strong>Sudden death in septo-optic dysplasia: report of 5 cases.</strong>
|
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Arch. Ophthal. 115: 66-70, 1997.
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[PubMed: 9006427]
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[Full Text: https://doi.org/10.1001/archopht.1997.01100150068011]
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<li>
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<p class="mim-text-font">
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Cameron, F. J., Khadilkar, V. V., Stanhope, R.
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<strong>Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum.</strong>
|
|
Europ. J. Pediat. 158: 97-102, 1999.
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[PubMed: 10048603]
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[Full Text: https://doi.org/10.1007/s004310051026]
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</li>
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<li>
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<p class="mim-text-font">
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Hackenbruch, Y., Meerhoff, E., Besio, R., Cardoso, H.
|
|
<strong>Familial bilateral optic nerve hypoplasia.</strong>
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Am. J. Ophthal. 79: 314-320, 1975.
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[PubMed: 1115199]
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[Full Text: https://doi.org/10.1016/0002-9394(75)90088-4]
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</p>
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</li>
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John A. Phillips, III - updated : 1/10/2005<br>Victor A. McKusick - updated : 5/23/2003
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Victor A. McKusick : 6/2/1986
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