Coats'-type retinitis pigmentosa: first reported case of presumed vertical transmission
| Autor: | Manuel Perrier, Danny Gauthier, Gilles Marcil, Mikael Sebag |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Adult
Male medicine.medical_specialty Inheritance Patterns chemistry.chemical_compound Ophthalmology Retinitis pigmentosa Humans Medicine Genetic Predisposition to Disease Coats' disease Fluorescein Angiography Child Aged Genes Dominant Genetics Retina medicine.diagnostic_test business.industry Transmission (medicine) Siblings Retinal detachment Retinal General Medicine medicine.disease Fluorescein angiography Pedigree medicine.anatomical_structure chemistry Female business Retinitis Pigmentosa |
| Zdroj: | Canadian Journal of Ophthalmology. 39:782-784 |
| ISSN: | 0008-4182 |
| Popis: | Retinitis pigmentosa (RP) is a group of inherited diseases of the retina characterized by progres sive photoreceptor dysfunction associated with cell loss, vessel attenuation and eventual retinal atrophy. Coats' disease is an idiopathic condition, generally unilateral and more commonly affecting males. Telangiectatic and aneurysmal retinal vessels are observed, with intra- and subretinal exudates. These vascular abnormalities may eventually lead to exuda tive retinal detachment and severe visual loss. The observation of Coats' -type changes with long standing RP is well established. 1 - 5 The association does not seem to be either random or coincidental. The age, sex, bilaterality and retinal location in affected patients differ greatly from those seen in classic Coats' disease. The genetics of RP is complex, and the mode of inheritance can be autosomal dominant, recessive, X linked or digenic. We are aware of only three reports of siblings with Coats' -type RP. 1 • 3 • 5 The apparent mode of inheritance was autosomal recessive in two reports, 1 • 3 and in the third case the mode of inheri tance was determined to be autosomal dominant. 1 • 5 To our knowledge, vertical transmission of Coats' -type RP has not been reported. |
| Databáze: | OpenAIRE |
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