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<title>
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Entry
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- #126700 - BASAL LAMINAR DRUSEN
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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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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<li role="presentation">
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<div><a href="https://clinicaltrials.gov/search?cond=(BASAL LAMINAR DRUSEN) OR (CFH)" 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.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11075&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7804" 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=126700[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75376" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</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:0060746" 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/126700" 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>
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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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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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>SNOMEDCT:</strong> 312926005<br />
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<strong>ORPHA:</strong> 75376<br />
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<strong>DO:</strong> 0060746<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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126700
|
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</span>
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</span>
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</div>
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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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BASAL LAMINAR DRUSEN
|
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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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</div>
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<div>
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<a id="alternativeTitles" 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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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
DRUSEN OF BRUCH MEMBRANE<br />
|
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DRUSEN, CUTICULAR<br />
|
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DRUSEN, EARLY ADULT-ONSET, GROUPED
|
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</span>
|
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</h4>
|
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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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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<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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1q31.3
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Basal laminar drusen
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<a href="/entry/126700"> 126700 </a>
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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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CFH
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<a href="/entry/134370"> 134370 </a>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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- Multiple drusen of Bruch membrane<br /> - Round or oval grape-like lesions of posterior polar retina<br /> - Pigmentary disturbances with secondary calcifications<br /> - Progressive loss of vision <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839364&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839364</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span><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 /> - also a recessive form, fleck retina disease (see 228980)<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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<p>A number sign (#) is used with this entry because of evidence that a variant of the CFH gene (<a href="/entry/134370">134370</a>) influences the development of basal laminar drusen.</p>
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<strong>Description</strong>
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<p>Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by <a href="#1" class="mim-tip-reference" title="Bok, D. <strong>New insights and new approaches toward the study of age-related macular degeneration. (Commentary)</strong> Proc. Nat. Acad. Sci. 99: 14619-14621, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12419853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12419853</a>] [<a href="https://doi.org/10.1073/pnas.242607899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12419853">Bok, 2002</a>, <a href="#2" class="mim-tip-reference" title="Boon, C. J. F., Klevering, B. J., Hoyng, C. B., Zonneveld-Vrieling, M. N., Nabuurs, S. B., Blokland, E., Cremers, F. P. M., den Hollander, A. I. <strong>Basal laminar drusen caused by compound heterozygous variants in the CFH gene.</strong> Am. J. Hum. Genet. 82: 516-523, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252232[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/10.1016/j.ajhg.2007.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252232">Boon et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18252232+12419853" 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>'Basal laminar drusen' refers to an early adult-onset drusen phenotype that shows a pattern of uniform small (25- to 75-micrometer), slightly raised yellow subretinal nodules randomly scattered in the macula (<a href="#2" class="mim-tip-reference" title="Boon, C. J. F., Klevering, B. J., Hoyng, C. B., Zonneveld-Vrieling, M. N., Nabuurs, S. B., Blokland, E., Cremers, F. P. M., den Hollander, A. I. <strong>Basal laminar drusen caused by compound heterozygous variants in the CFH gene.</strong> Am. J. Hum. Genet. 82: 516-523, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252232[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/10.1016/j.ajhg.2007.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252232">Boon et al., 2008</a>). The term 'basal laminar drusen' is widely used but may be a misnomer because these deposits do not appear to correspond with nodular or diffuse thickening of the Bruch membrane. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. On fluorescein angiography, a typical 'stars in the sky' appearance may be observed. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18252232" 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="#4" class="mim-tip-reference" title="Deutman, A. F., Jansen, L. M. A. A. <strong>Dominantly inherited drusen of Bruch's membrane.</strong> Brit. J. Ophthal. 54: 373-382, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5448127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5448127</a>] [<a href="https://doi.org/10.1136/bjo.54.6.373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5448127">Deutman and Jansen (1970)</a> described a family in which 8 persons in 5 sibships had confirmed multiple drusen of Bruch membrane. There was no instance of male-to-male transmission but an affected male had 2 daughters who were negative by examination. They observed concordant monozygotic twins and affected boys 12 and 14 years old. They concluded that the family with 'crystalline retinal degeneration' reported by <a href="#5" class="mim-tip-reference" title="Evans, P. J. <strong>Five cases of familial retinal abiotrophy.</strong> Trans. Ophthal. Soc. U.K. 70: 96, 1950."None>Evans (1950)</a> had this condition. The authors also concluded that Doyne honeycomb choroiditis (<a href="/entry/126600">126600</a>) is the same condition. Round or oval lesions in almost grape-like clusters are concentrated in the posterior polar region. Pigmentary disturbances with secondary calcifications occur. The macula is almost always involved and may appear edematous or hemorrhagic. Loss of vision occurs during the progressive stages. This is considered a form of fleck retina disease (see <a href="/entry/228980">228980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5448127" 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="#1" class="mim-tip-reference" title="Bok, D. <strong>New insights and new approaches toward the study of age-related macular degeneration. (Commentary)</strong> Proc. Nat. Acad. Sci. 99: 14619-14621, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12419853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12419853</a>] [<a href="https://doi.org/10.1073/pnas.242607899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12419853">Bok (2002)</a> stated that there was widespread agreement among ophthalmologists that numerous large drusen, when present in both eyes, represent a significant risk factor for the evolution of early age-related macular dystrophy (ARMD1; <a href="/entry/603075">603075</a>) into more advanced ARMD, with loss of central vision. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12419853" 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>To understand the molecular basis of drusen formation, <a href="#3" class="mim-tip-reference" title="Crabb, J. W., Miyagi, M., Gu, X., Shadrach, K., West, K. A., Sakaguchi, H., Kamei, M., Hasan, A., Yan, L., Rayborn, M. E., Salomon, R. G., Hollyfield, J. G. <strong>Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.</strong> Proc. Nat. Acad. Sci. 99: 14682-14687, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12391305[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/10.1073/pnas.222551899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12391305">Crabb et al. (2002)</a> developed a method for isolating microgram quantities of drusen and Bruch membrane for proteome analysis. They found oxidative protein modifications in drusen, supporting the hypothesis that oxidative injury contributes to the pathogenesis of ARMD and that these modifications may have a critical role in drusen formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12391305" 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>In 30 probands with a diagnosis of basal laminar drusen maculopathy, <a href="#2" class="mim-tip-reference" title="Boon, C. J. F., Klevering, B. J., Hoyng, C. B., Zonneveld-Vrieling, M. N., Nabuurs, S. B., Blokland, E., Cremers, F. P. M., den Hollander, A. I. <strong>Basal laminar drusen caused by compound heterozygous variants in the CFH gene.</strong> Am. J. Hum. Genet. 82: 516-523, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252232[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/10.1016/j.ajhg.2007.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252232">Boon et al. (2008)</a> found the tyr402-to-his variant of the CFH gene, encoding complement factor H (<a href="/entry/134370#0008">134370.0008</a>), in 48% of alleles. They found compound heterozygosity in affected members of 5 families for Y402H and another CFH mutation. <a href="#2" class="mim-tip-reference" title="Boon, C. J. F., Klevering, B. J., Hoyng, C. B., Zonneveld-Vrieling, M. N., Nabuurs, S. B., Blokland, E., Cremers, F. P. M., den Hollander, A. I. <strong>Basal laminar drusen caused by compound heterozygous variants in the CFH gene.</strong> Am. J. Hum. Genet. 82: 516-523, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252232[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/10.1016/j.ajhg.2007.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252232">Boon et al. (2008)</a> concluded that their findings strongly supported a recessive disease model in a subgroup of patients with basal laminar drusen. In these families, individuals develop drusen when they carry a CFH mutation on 1 allele and the Y402H variant on the other. The presence of a CFH mutation in the absence of the Y402H variant, however, might contribute to the development of age-related macular degeneration at a later age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18252232" 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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<strong>REFERENCES</strong>
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<a id="Bok2002" class="mim-anchor"></a>
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Bok, D.
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<strong>New insights and new approaches toward the study of age-related macular degeneration. (Commentary)</strong>
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Proc. Nat. Acad. Sci. 99: 14619-14621, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12419853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12419853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12419853" 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/10.1073/pnas.242607899" target="_blank">Full Text</a>]
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Boon, C. J. F., Klevering, B. J., Hoyng, C. B., Zonneveld-Vrieling, M. N., Nabuurs, S. B., Blokland, E., Cremers, F. P. M., den Hollander, A. I.
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<strong>Basal laminar drusen caused by compound heterozygous variants in the CFH gene.</strong>
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Am. J. Hum. Genet. 82: 516-523, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252232[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=18252232" 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/j.ajhg.2007.11.007" target="_blank">Full Text</a>]
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Crabb, J. W., Miyagi, M., Gu, X., Shadrach, K., West, K. A., Sakaguchi, H., Kamei, M., Hasan, A., Yan, L., Rayborn, M. E., Salomon, R. G., Hollyfield, J. G.
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<strong>Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.</strong>
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Proc. Nat. Acad. Sci. 99: 14682-14687, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12391305[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=12391305" 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/10.1073/pnas.222551899" target="_blank">Full Text</a>]
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Deutman, A. F., Jansen, L. M. A. A.
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<strong>Dominantly inherited drusen of Bruch's membrane.</strong>
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Brit. J. Ophthal. 54: 373-382, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5448127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5448127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5448127" 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/10.1136/bjo.54.6.373" target="_blank">Full Text</a>]
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Evans, P. J.
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<strong>Five cases of familial retinal abiotrophy.</strong>
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Trans. Ophthal. Soc. U.K. 70: 96, 1950.
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Anne M. Stumpf - updated : 03/20/2020
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Victor A. McKusick - updated : 3/31/2008
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Victor A. McKusick : 6/4/1986
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alopez : 03/20/2020
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carol : 02/20/2020<br>alopez : 04/10/2008<br>terry : 3/31/2008<br>carol : 12/10/2002<br>tkritzer : 12/10/2002<br>terry : 12/4/2002<br>mark : 3/28/1996<br>terry : 3/20/1996<br>mimadm : 6/25/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/4/1986
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<strong>#</strong> 126700
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BASAL LAMINAR DRUSEN
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DRUSEN OF BRUCH MEMBRANE<br />
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DRUSEN, CUTICULAR<br />
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DRUSEN, EARLY ADULT-ONSET, GROUPED
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<strong>SNOMEDCT:</strong> 312926005;
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<strong>ORPHA:</strong> 75376;
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<strong>DO:</strong> 0060746;
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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1q31.3
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Basal laminar drusen
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126700
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Autosomal dominant
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3
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CFH
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134370
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<p>A number sign (#) is used with this entry because of evidence that a variant of the CFH gene (134370) influences the development of basal laminar drusen.</p>
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<strong>Description</strong>
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<p>Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by Bok, 2002, Boon et al., 2008). </p>
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<strong>Clinical Features</strong>
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<p>'Basal laminar drusen' refers to an early adult-onset drusen phenotype that shows a pattern of uniform small (25- to 75-micrometer), slightly raised yellow subretinal nodules randomly scattered in the macula (Boon et al., 2008). The term 'basal laminar drusen' is widely used but may be a misnomer because these deposits do not appear to correspond with nodular or diffuse thickening of the Bruch membrane. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. On fluorescein angiography, a typical 'stars in the sky' appearance may be observed. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss. </p><p>Deutman and Jansen (1970) described a family in which 8 persons in 5 sibships had confirmed multiple drusen of Bruch membrane. There was no instance of male-to-male transmission but an affected male had 2 daughters who were negative by examination. They observed concordant monozygotic twins and affected boys 12 and 14 years old. They concluded that the family with 'crystalline retinal degeneration' reported by Evans (1950) had this condition. The authors also concluded that Doyne honeycomb choroiditis (126600) is the same condition. Round or oval lesions in almost grape-like clusters are concentrated in the posterior polar region. Pigmentary disturbances with secondary calcifications occur. The macula is almost always involved and may appear edematous or hemorrhagic. Loss of vision occurs during the progressive stages. This is considered a form of fleck retina disease (see 228980). </p><p>Bok (2002) stated that there was widespread agreement among ophthalmologists that numerous large drusen, when present in both eyes, represent a significant risk factor for the evolution of early age-related macular dystrophy (ARMD1; 603075) into more advanced ARMD, with loss of central vision. </p>
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<strong>Biochemical Features</strong>
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<span class="mim-text-font">
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<p>To understand the molecular basis of drusen formation, Crabb et al. (2002) developed a method for isolating microgram quantities of drusen and Bruch membrane for proteome analysis. They found oxidative protein modifications in drusen, supporting the hypothesis that oxidative injury contributes to the pathogenesis of ARMD and that these modifications may have a critical role in drusen formation. </p>
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<strong>Molecular Genetics</strong>
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<p>In 30 probands with a diagnosis of basal laminar drusen maculopathy, Boon et al. (2008) found the tyr402-to-his variant of the CFH gene, encoding complement factor H (134370.0008), in 48% of alleles. They found compound heterozygosity in affected members of 5 families for Y402H and another CFH mutation. Boon et al. (2008) concluded that their findings strongly supported a recessive disease model in a subgroup of patients with basal laminar drusen. In these families, individuals develop drusen when they carry a CFH mutation on 1 allele and the Y402H variant on the other. The presence of a CFH mutation in the absence of the Y402H variant, however, might contribute to the development of age-related macular degeneration at a later age. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Bok, D.
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<strong>New insights and new approaches toward the study of age-related macular degeneration. (Commentary)</strong>
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Proc. Nat. Acad. Sci. 99: 14619-14621, 2002.
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[PubMed: 12419853]
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[Full Text: https://doi.org/10.1073/pnas.242607899]
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Boon, C. J. F., Klevering, B. J., Hoyng, C. B., Zonneveld-Vrieling, M. N., Nabuurs, S. B., Blokland, E., Cremers, F. P. M., den Hollander, A. I.
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<strong>Basal laminar drusen caused by compound heterozygous variants in the CFH gene.</strong>
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Am. J. Hum. Genet. 82: 516-523, 2008.
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[PubMed: 18252232]
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[Full Text: https://doi.org/10.1016/j.ajhg.2007.11.007]
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Crabb, J. W., Miyagi, M., Gu, X., Shadrach, K., West, K. A., Sakaguchi, H., Kamei, M., Hasan, A., Yan, L., Rayborn, M. E., Salomon, R. G., Hollyfield, J. G.
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<strong>Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.</strong>
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Proc. Nat. Acad. Sci. 99: 14682-14687, 2002.
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[PubMed: 12391305]
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[Full Text: https://doi.org/10.1073/pnas.222551899]
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<p class="mim-text-font">
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Deutman, A. F., Jansen, L. M. A. A.
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<strong>Dominantly inherited drusen of Bruch's membrane.</strong>
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Brit. J. Ophthal. 54: 373-382, 1970.
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[PubMed: 5448127]
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[Full Text: https://doi.org/10.1136/bjo.54.6.373]
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<p class="mim-text-font">
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Evans, P. J.
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<strong>Five cases of familial retinal abiotrophy.</strong>
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Trans. Ophthal. Soc. U.K. 70: 96, 1950.
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 03/20/2020<br>Victor A. McKusick - updated : 3/31/2008
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Victor A. McKusick : 6/4/1986
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