Familial occurrence of retinitis punctata albescens and congenital sensorineural deafness.

Abstract:

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.

journal_name

Am J Ophthalmol

authors

Botelho PJ,Blinder KJ,Shahinfar S

doi

10.1016/s0002-9394(99)00060-4

subject

Has Abstract

pub_date

1999-08-01 00:00:00

pages

246-7

issue

2

eissn

0002-9394

issn

1879-1891

pii

S0002939499000604

journal_volume

128

pub_type

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