American journal of ophthalmology · 1999
Familial occurrence of retinitis punctata albescens and congenital sensorineural deafness.
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Botelho P J, Blinder K J, Shahinfar S
Аннотация
PURPOSE: To report the cotransmission of retinitis punctata albescens (RPA) and congenital sensorineural deafness.
METHODS: Case reports of two siblings with nyctalopia and profound bilateral sensorineural deafness.
RESULTS: The affected siblings, an 11-year-old female and a 7-year-old male, presented with decreased visual acuity and night blindness. In both eyes of both siblings, ophthalmoscopic evaluation disclosed numerous white spots at the level of the retinal pigment epithelium with macular sparing. The rod threshold dark adaptation and electroretinogram tracings were consistent with advanced rod-cone degeneration.
CONCLUSION: Two affected members of a family were found to exhibit RPA and congenital sensorineural deafness. This pedigree supports the genetic cotransmission of the traits.
METHODS: Case reports of two siblings with nyctalopia and profound bilateral sensorineural deafness.
RESULTS: The affected siblings, an 11-year-old female and a 7-year-old male, presented with decreased visual acuity and night blindness. In both eyes of both siblings, ophthalmoscopic evaluation disclosed numerous white spots at the level of the retinal pigment epithelium with macular sparing. The rod threshold dark adaptation and electroretinogram tracings were consistent with advanced rod-cone degeneration.
CONCLUSION: Two affected members of a family were found to exhibit RPA and congenital sensorineural deafness. This pedigree supports the genetic cotransmission of the traits.