title: Familial occurrence of retinitis punctata albescens and congenital sensorineural deafness.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Two affected members of a family were found to exhibit RPA and congenital sensorineural deafness. This pedigree supports the genetic cotransmission of the traits.
authors.affiliation: Department of Ophthalmology, Scott Air Force Base, Illinois 62225, USA. Paul.Botelho@scott.af.mil
authors.forename: P J
authors.initials: PJ
authors.lastname: Botelho
authors.forename: K J
authors.initials: KJ
authors.lastname: Blinder
authors.forename: S
authors.initials: S
authors.lastname: Shahinfar
mesh_terms: D002648:Child; D003623:Dark Adaptation; D003638:Deafness / Q000150:complications / Q000151:congenital* / Q000235:genetics; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000150:complications / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D010857:Pigment Epithelium of Eye / Q000473:pathology; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology / Q000503:physiopathology; D017948:Retinal Rod Photoreceptor Cells / Q000473:pathology / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014792:Visual Acuity