Classification and management of Coats disease: the 2000 Proctor Lecture.
TL;DR: Carefully selected treatment can anatomically stabilize or improve the eye with Coats disease in 76% of eyes, however, poor visual outcome of 20/200 or worse commonly results, and patients with stages 4 and 5 have a poor visual prognosis.
About: This article is published in American Journal of Ophthalmology.The article was published on 2001-05-01. It has received 319 citations till now. The article focuses on the topics: Coats' disease & Enucleation.
Citations
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TL;DR: Coats disease is a distinct clinical entity characterized by idiopathic retinal telangiectasia and retinal exudation that is usually unilateral, occurs mostly in young males, and can cause severe visual loss resulting from exudative retinal detachment.
285 citations
TL;DR: This case is submitted by Drs.
Abstract: This case is submitted by Drs. Francisco J. Ascaso, Maria Rojo, and Enrique Minguez from the Department of Ophthalmology, “Lozano Blesa” University Clinic Hospital, Zaragoza, Spain, for the Diagnostic and Therapeutic Challenges Section of Retina; and commented by Dr. Steven M. Cohen, Clearwater, Flo
224 citations
TL;DR: All FEVR patients in whom molecular testing is not easily accessible should have dual energy X-ray absorptiometry (DEXA) scans to assess bone mineral density, as treatment can be initiated to reduce the risk of bone fractures.
Abstract: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease. Expressivity may be asymmetric and is highly variable. Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (autosomal dominant and recessive), LRP5 (autosomal dominant and recessive), TSPAN12 (autosomal dominant and recessive), and ZNF408 (autosomal dominant). Four of these genes have been shown to have a central role in Norrin/Frizzled4 signalling, suggesting a critical role for this pathway in retinal angiogenesis. In addition to the ocular features, LRP5 mutations can cause osteopenia and osteoporosis. All FEVR patients in whom molecular testing is not easily accessible should have dual energy X-ray absorptiometry (DEXA) scans to assess bone mineral density, as treatment can be initiated to reduce the risk of bone fractures.
195 citations
TL;DR: In this cohort, loss-of-function and C-terminal extension mutations were found to cause more severe phenotypes than missense mutations, which caused milder phenotypes in this cohort.
Abstract: PURPOSE. Heterozygous mutations of the PAX6 gene cause a variety of ocular malformations, the best known being aniridia (absence of the iris). Mutation analyses and detailed clinical evaluations were performed in 43 individuals with aniridia or closely related ocular anomalies, to investigate whether phenotype correlates with mutation type.METHODS. Case notes and medical records were reviewed and patients were reexamined when necessary. Denaturing high-performance liquid chromatography (DHPLC) analysis and sequencing of the PAX6 coding region was performed in individuals whose mutation was unknown.RESULTS. The most common PAX6 mutations identified were premature termination mutations, amino acid substitutions, and C-terminal extensions. Six novel mutations are reported. Mutations that inactivate one copy of the gene typically caused a severe phenotype including foveal hypoplasia, marked iris anomalies, and severe visual impairment. Missense mutations, all affecting invariant amino acids in the paired domain, caused milder phenotypes in this cohort, with a lower incidence of foveal hypoplasia and less severe visual loss. C-terminal extension mutations caused relatively severe anomalies and marked reduction in vision. Two C-terminal extension cases had a unilateral exudative retinopathy, resembling Coats' disease, which has not previously been reported in association with PAX6 mutation.CONCLUSIONS. PAX6 mutations cause panocular malformations that vary considerably in pattern and severity. In our cohort, iris hypoplasia, nystagmus, and foveal hypoplasia were most common, with cataracts, corneal anomalies, and high refractive errors also frequently observed. In this cohort, loss-of-function and C-terminal extension mutations were found to cause more severe phenotypes than missense mutations. (Invest Ophthalmol Vis Sci. 2009; 50: 2581-2590) DOI:10.1167/iovs.08-2827
155 citations
TL;DR: Coats disease is an idiopathic condition characterized by retinal vascular telangiectasia and exudative retinopathy that most often affects young males and has been the subject of considerable attention in the ophthalmic literature.
Abstract: Coats disease is a well-known ocular entity that has been the subject of considerable attention in the ophthalmic literature. It is an idiopathic condition characterized by retinal vascular telangiectasia and exudative retinopathy that most often affects young males. The striking ophthalmoscopic fea
140 citations
References
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392 citations
TL;DR: Coats disease is a distinct clinical entity characterized by idiopathic retinal telangiectasia and retinal exudation that is usually unilateral, occurs mostly in young males, and can cause severe visual loss resulting from exudative retinal detachment.
285 citations
TL;DR: In this paper, fine-needle aspiration biopsy was performed on selected patients who had intraocular lesions that were suspected clinically to be neoplasms but in which there was diagnostic uncertainty based on noninvasive clinical evaluation.
246 citations
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TL;DR: Tumors of the Uveal Tract Tumor of the Retina and Optic Disc Miscellaneous Intraocular Tumors Individually and collectively are associated with central giant cell granuloma.
Abstract: Tumors of the Uveal Tract Tumors of the Retina and Optic Disc Miscellaneous Intraocular Tumors Inde
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