Klinische Monatsblatter fur Augenheilkunde · 2000
[Cone dystrophy associated with Alport syndrome].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Spraul C W, Lang G E
Аннотация
BACKGROUND: Alport's syndrome is a hereditary disease with renal, cochlear, and ocular involvement. We report a patient with Alport's syndrome who exhibited morphologic macular changes similar to cone dystrophy.
HISTORY AND SIGNS: A 46-year-old man was evaluated for peculiar macular changes, which have caused a significant decrease in visual acuity over the last years. His general history was remarkable for the presence of sensorineural hearing impairment since infancy as well as end stage renal failure followed by renal transplantation. The ophthalmological findings in this patient included circumscribed macular lesions consisting of atrophy of the retinal pigment epithelium and bilateral anterior lenticonus.
CONCLUSION: Alport's syndrome is a characteristic prototype of a genetic basement membrane disease with ocular, renal, and cochlear involvement. Common ocular findings are the dot-and-fleck retinopathy and the anterior lenticonus. In contrary to the anterior lenticonus retinal changes are rarely associated with visual impairment. An association with a macular lesion similar to the cone dystrophy has only infrequently been reported.
HISTORY AND SIGNS: A 46-year-old man was evaluated for peculiar macular changes, which have caused a significant decrease in visual acuity over the last years. His general history was remarkable for the presence of sensorineural hearing impairment since infancy as well as end stage renal failure followed by renal transplantation. The ophthalmological findings in this patient included circumscribed macular lesions consisting of atrophy of the retinal pigment epithelium and bilateral anterior lenticonus.
CONCLUSION: Alport's syndrome is a characteristic prototype of a genetic basement membrane disease with ocular, renal, and cochlear involvement. Common ocular findings are the dot-and-fleck retinopathy and the anterior lenticonus. In contrary to the anterior lenticonus retinal changes are rarely associated with visual impairment. An association with a macular lesion similar to the cone dystrophy has only infrequently been reported.