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Entry
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- 300216 - COATS DISEASE
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- OMIM
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<span class="h4">300216</span>
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<br />
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<strong>Table of Contents</strong>
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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="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1331/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=190" 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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 25506007, 360455002<br />
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<strong>ICD10CM:</strong> H35.02, H35.07<br />
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<strong>ICD9CM:</strong> 362.12<br />
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<strong>ORPHA:</strong> 190<br />
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<strong>DO:</strong> 7765<br />
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">ICD+</a>
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<span class="mim-font mim-tip-hint" title="Other, mainly phenotypes with suspected mendelian basis">
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300216
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COATS DISEASE
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RETINAL TELANGIECTASIS
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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>Coats disease, also called retinal telangiectasis, is a sporadic disorder characterized by a defect of retinal vascular development that results in vessel leakage, subretinal exudation, and retinal detachment. The disorder was first reported by <a href="#2" class="mim-tip-reference" title="Coats, G. <strong>Forms of retinal diseases with massive exudation.</strong> Roy. Lond. Ophthal. Hosp. Rep. 17: 440-525, 1908."None>Coats (1908)</a> in 6 children. Initially, the condition is seen within a sector of the retina and at this stage may be associated with normal vision. However, the consequent retinal detachment often leads to progressive visual loss. In its classic form, Coats disease is almost invariably seen in males and, unlike other forms of retinal telangiectasis, is unilateral (<a href="#1" class="mim-tip-reference" title="Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., McLeod, D. <strong>Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.</strong> Hum. Molec. Genet. 8: 2031-2035, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484772</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484772">Black et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484772" 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 review of reported cases of Coats disease and 150 of their own cases, <a href="#6" class="mim-tip-reference" title="Shields, J. A., Shields, C. L. <strong>Review: Coats disease: the 2001 LuEsther T. Mertz lecture.</strong> Retina 22: 80-91, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11884883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11884883</a>] [<a href="https://doi.org/10.1097/00006982-200202000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11884883">Shields and Shields (2002)</a> found that the mean age of onset of Coats disease was 5 years. Most cases were unilateral (95%) and occurred in males (75%). In most cases, the disease was slowly progressive with increasing exudative retinal detachment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11884883" 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="Shields, C. L., Zahler, J., Falk, N., Furuta, M., Eagle, R. C., Jr., Espinosa, L. E. B., Fischer, P. R., Shields, J. A. <strong>Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child.</strong> Arch. Ophthal. 125: 840-842, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17563001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17563001</a>] [<a href="https://doi.org/10.1001/archopht.125.6.840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17563001">Shields et al. (2007)</a> noted that retinal telangiectasia compatible with Coats disease can be an extramuscular manifestation of facioscapulohumeral dystrophy (FSHD; <a href="/entry/158900">158900</a>) but that most affected patients have asymptomatic retinal telangiectasia found at ocular screening after diagnosis of FSHD. They described a young child who had advanced eye findings of unilateral neovascular glaucoma from bilateral retinal telangiectasia 3 years before FSHD became apparent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17563001" 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="#7" class="mim-tip-reference" title="Smithen, L. M., Brown, G. C., Brucker, A. J., Yannuzzi, L. A., Klais, C. M., Spaide, R. F. <strong>Coats' disease diagnosed in adulthood.</strong> Ophthalmology 112: 1072-1078, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15882905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15882905</a>] [<a href="https://doi.org/10.1016/j.ophtha.2004.12.038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15882905">Smithen et al. (2005)</a> reported 13 patients diagnosed after the age of 35 years (mean age at diagnosis, 50 years). Those diagnosed in adulthood manifested features similar to those diagnosed in childhood: unilateral disease, male predominance, vascular telangiectasis, lipid exudation, macular edema, and areas of capillary nonperfusion with adjacent webs of filigree-like capillaries. Differences in the adult cases included limited area of involvement, slower disease progression, and hemorrhage near larger vascular dilatations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15882905" 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="Lim, W.-K., Nussenblatt, R. B., Chan, C.-C. <strong>Immunopathologic features of inflammatory Coats disease.</strong> Arch. Ophthal. 123: 279-281, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15710836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15710836</a>] [<a href="https://doi.org/10.1001/archopht.123.2.279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15710836">Lim et al. (2005)</a> described a 29-year-old woman with an unusual case of Coats disease in which there was a prominent inflammatory component in addition to the subretinal and retinal lipid crystal deposits and abnormal retinal vasculature characteristic of the disease. The patient had a 9-year history of bilateral uveitis complicated by secondary glaucoma in the right eye. Inflammation in the right eye was only partially controlled by prednisolone and cyclosporine. She developed intractable neovascular glaucoma in the left eye that led to complete loss of vision. Immunochemical staining revealed that the intraluminal inflammatory cells were macrophages and that the perivascular inflammatory infiltrates were composed largely of T lymphocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15710836" 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="#3" class="mim-tip-reference" title="Kase, S., Rao, N. A., Yoshikawa, H., Fukuhara, J., Noda, K., Kanda, A., Ishida, S. <strong>Expression of vascular endothelial growth factor in eyes with Coats' disease.</strong> Invest. Ophthal. Vis. Sci. 54: 57-62, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23221067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23221067</a>] [<a href="https://doi.org/10.1167/iovs.12-10613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23221067">Kase et al. (2013)</a> examined the expression of vascular endothelial growth factor (VEGF; <a href="/entry/192240">192240</a>) and VEGF receptor (VEGFR; <a href="/entry/191306">191306</a>) in eyes enucleated because of Coats disease. Histologically, the enucleated eyes demonstrated the presence of macrophage infiltration and cholesterol clefts in the subretinal space. There were marked retinal vascular abnormalities, including dilated vessels with hyalinized vessel walls in 6 globes. Exudative retinal detachment was noted in all globes. VEGF immunoreactivity was observed in macrophages infiltrating the subretinal space and in the detached retina including several blood vessels. VEGF-positivity in macrophages was significantly higher in cases containing retinal vessel abnormalities than in those without abnormalities (P less than 0.01). VEGFR immunoreactivity was detected in endothelial cells lining the abnormal retinal vessels, where VEGFR1 (<a href="/entry/165070">165070</a>) and VEGFR3 (<a href="/entry/136352">136352</a>) were not expressed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23221067" 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="Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., McLeod, D. <strong>Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.</strong> Hum. Molec. Genet. 8: 2031-2035, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484772</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484772">Black et al. (1999)</a> presented evidence that Coats disease can be caused by somatic mutation in the NDP gene (<a href="/entry/300658">300658</a>), which is also mutant in Norrie disease (<a href="/entry/310600">310600</a>). They reported a woman with a unilateral variant of Coats disease who gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene (cys96 to trp; <a href="/entry/300658#0018">300658.0018</a>) on Xp11.4. Subsequent analysis of the retinas of 9 enucleated eyes from males with Coats disease demonstrated in 1 a somatic mutation in the NDP gene that was not present in nonretinal tissue. This mutation was identical to that identified in the mother and son. <a href="#1" class="mim-tip-reference" title="Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., McLeod, D. <strong>Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.</strong> Hum. Molec. Genet. 8: 2031-2035, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484772</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484772">Black et al. (1999)</a> suggested that Coats telangiectasis is secondary to somatic mutation in the NDP gene, which results in a deficiency of norrin within the developing retina. This supported observations that the protein is critical for normal retinal vasculogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484772" 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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Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., McLeod, D.
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<strong>Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.</strong>
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Hum. Molec. Genet. 8: 2031-2035, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Coats, G.
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<strong>Forms of retinal diseases with massive exudation.</strong>
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Roy. Lond. Ophthal. Hosp. Rep. 17: 440-525, 1908.
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Kase, S., Rao, N. A., Yoshikawa, H., Fukuhara, J., Noda, K., Kanda, A., Ishida, S.
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Invest. Ophthal. Vis. Sci. 54: 57-62, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23221067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23221067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23221067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lim, W.-K., Nussenblatt, R. B., Chan, C.-C.
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Arch. Ophthal. 123: 279-281, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15710836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15710836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15710836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Shields, C. L., Zahler, J., Falk, N., Furuta, M., Eagle, R. C., Jr., Espinosa, L. E. B., Fischer, P. R., Shields, J. A.
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<strong>Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child.</strong>
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Arch. Ophthal. 125: 840-842, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17563001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17563001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17563001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Shields, J. A., Shields, C. L.
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<strong>Review: Coats disease: the 2001 LuEsther T. Mertz lecture.</strong>
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Retina 22: 80-91, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11884883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11884883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11884883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Smithen, L. M., Brown, G. C., Brucker, A. J., Yannuzzi, L. A., Klais, C. M., Spaide, R. F.
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<strong>Coats' disease diagnosed in adulthood.</strong>
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Ophthalmology 112: 1072-1078, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15882905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15882905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15882905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jane Kelly - updated : 05/16/2013
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Jane Kelly - updated : 11/8/2007<br>Jane Kelly - updated : 11/17/2005<br>Jane Kelly - updated : 11/16/2005
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carol : 11/8/2007<br>carol : 7/27/2007<br>carol : 11/29/2005<br>carol : 11/17/2005<br>carol : 11/16/2005<br>mgross : 11/4/1999<br>mgross : 11/4/1999<br>mgross : 11/4/1999<br>mgross : 11/4/1999
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COATS DISEASE
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<strong>SNOMEDCT:</strong> 25506007, 360455002;
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<strong>ICD10CM:</strong> H35.02, H35.07;
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<strong>ICD9CM:</strong> 362.12;
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<strong>ORPHA:</strong> 190;
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<strong>DO:</strong> 7765;
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<p>Coats disease, also called retinal telangiectasis, is a sporadic disorder characterized by a defect of retinal vascular development that results in vessel leakage, subretinal exudation, and retinal detachment. The disorder was first reported by Coats (1908) in 6 children. Initially, the condition is seen within a sector of the retina and at this stage may be associated with normal vision. However, the consequent retinal detachment often leads to progressive visual loss. In its classic form, Coats disease is almost invariably seen in males and, unlike other forms of retinal telangiectasis, is unilateral (Black et al., 1999). </p><p>In a review of reported cases of Coats disease and 150 of their own cases, Shields and Shields (2002) found that the mean age of onset of Coats disease was 5 years. Most cases were unilateral (95%) and occurred in males (75%). In most cases, the disease was slowly progressive with increasing exudative retinal detachment. </p><p>Shields et al. (2007) noted that retinal telangiectasia compatible with Coats disease can be an extramuscular manifestation of facioscapulohumeral dystrophy (FSHD; 158900) but that most affected patients have asymptomatic retinal telangiectasia found at ocular screening after diagnosis of FSHD. They described a young child who had advanced eye findings of unilateral neovascular glaucoma from bilateral retinal telangiectasia 3 years before FSHD became apparent. </p><p>Smithen et al. (2005) reported 13 patients diagnosed after the age of 35 years (mean age at diagnosis, 50 years). Those diagnosed in adulthood manifested features similar to those diagnosed in childhood: unilateral disease, male predominance, vascular telangiectasis, lipid exudation, macular edema, and areas of capillary nonperfusion with adjacent webs of filigree-like capillaries. Differences in the adult cases included limited area of involvement, slower disease progression, and hemorrhage near larger vascular dilatations. </p><p>Lim et al. (2005) described a 29-year-old woman with an unusual case of Coats disease in which there was a prominent inflammatory component in addition to the subretinal and retinal lipid crystal deposits and abnormal retinal vasculature characteristic of the disease. The patient had a 9-year history of bilateral uveitis complicated by secondary glaucoma in the right eye. Inflammation in the right eye was only partially controlled by prednisolone and cyclosporine. She developed intractable neovascular glaucoma in the left eye that led to complete loss of vision. Immunochemical staining revealed that the intraluminal inflammatory cells were macrophages and that the perivascular inflammatory infiltrates were composed largely of T lymphocytes. </p><p>Kase et al. (2013) examined the expression of vascular endothelial growth factor (VEGF; 192240) and VEGF receptor (VEGFR; 191306) in eyes enucleated because of Coats disease. Histologically, the enucleated eyes demonstrated the presence of macrophage infiltration and cholesterol clefts in the subretinal space. There were marked retinal vascular abnormalities, including dilated vessels with hyalinized vessel walls in 6 globes. Exudative retinal detachment was noted in all globes. VEGF immunoreactivity was observed in macrophages infiltrating the subretinal space and in the detached retina including several blood vessels. VEGF-positivity in macrophages was significantly higher in cases containing retinal vessel abnormalities than in those without abnormalities (P less than 0.01). VEGFR immunoreactivity was detected in endothelial cells lining the abnormal retinal vessels, where VEGFR1 (165070) and VEGFR3 (136352) were not expressed. </p>
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<strong>Molecular Genetics</strong>
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<p>Black et al. (1999) presented evidence that Coats disease can be caused by somatic mutation in the NDP gene (300658), which is also mutant in Norrie disease (310600). They reported a woman with a unilateral variant of Coats disease who gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene (cys96 to trp; 300658.0018) on Xp11.4. Subsequent analysis of the retinas of 9 enucleated eyes from males with Coats disease demonstrated in 1 a somatic mutation in the NDP gene that was not present in nonretinal tissue. This mutation was identical to that identified in the mother and son. Black et al. (1999) suggested that Coats telangiectasis is secondary to somatic mutation in the NDP gene, which results in a deficiency of norrin within the developing retina. This supported observations that the protein is critical for normal retinal vasculogenesis. </p>
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<strong>REFERENCES</strong>
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Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., McLeod, D.
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<strong>Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.</strong>
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Hum. Molec. Genet. 8: 2031-2035, 1999.
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[PubMed: 10484772]
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[Full Text: https://doi.org/10.1093/hmg/8.11.2031]
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Coats, G.
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<strong>Forms of retinal diseases with massive exudation.</strong>
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Roy. Lond. Ophthal. Hosp. Rep. 17: 440-525, 1908.
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Kase, S., Rao, N. A., Yoshikawa, H., Fukuhara, J., Noda, K., Kanda, A., Ishida, S.
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<strong>Expression of vascular endothelial growth factor in eyes with Coats' disease.</strong>
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Invest. Ophthal. Vis. Sci. 54: 57-62, 2013.
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[PubMed: 23221067]
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[Full Text: https://doi.org/10.1167/iovs.12-10613]
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Lim, W.-K., Nussenblatt, R. B., Chan, C.-C.
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<strong>Immunopathologic features of inflammatory Coats disease.</strong>
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Arch. Ophthal. 123: 279-281, 2005.
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[PubMed: 15710836]
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[Full Text: https://doi.org/10.1001/archopht.123.2.279]
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Shields, C. L., Zahler, J., Falk, N., Furuta, M., Eagle, R. C., Jr., Espinosa, L. E. B., Fischer, P. R., Shields, J. A.
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<strong>Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child.</strong>
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Arch. Ophthal. 125: 840-842, 2007.
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[PubMed: 17563001]
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[Full Text: https://doi.org/10.1001/archopht.125.6.840]
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Shields, J. A., Shields, C. L.
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<strong>Review: Coats disease: the 2001 LuEsther T. Mertz lecture.</strong>
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Retina 22: 80-91, 2002.
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[PubMed: 11884883]
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[Full Text: https://doi.org/10.1097/00006982-200202000-00014]
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Smithen, L. M., Brown, G. C., Brucker, A. J., Yannuzzi, L. A., Klais, C. M., Spaide, R. F.
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<strong>Coats' disease diagnosed in adulthood.</strong>
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Ophthalmology 112: 1072-1078, 2005.
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[PubMed: 15882905]
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[Full Text: https://doi.org/10.1016/j.ophtha.2004.12.038]
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Jane Kelly - updated : 05/16/2013<br>Jane Kelly - updated : 11/8/2007<br>Jane Kelly - updated : 11/17/2005<br>Jane Kelly - updated : 11/16/2005
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Victor A. McKusick : 11/4/1999
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