Familial occurrence of retinitis punctata albescens and congenital sensorineural deafness.

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.