A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract

Acta Ophthalmol Scand Suppl. 1996:(219):50-3. doi: 10.1111/j.1600-0420.1996.tb00387.x.

Abstract

A family with an unusual association of retinitis pigmentosa, progressive and severe hearing impairment, vestibular dysfunction, and congenital zonular cataract is described. The disease had a rather uniform appearance in five affected individuals. Parental consanguinity was documented in all cases and a common ancestor born in 1702 was identified. Consequently, autosomal recessive inheritance seems to be the most likely mode of transmission. This disorder possibly represents a new clinical entity among combined retinal dystrophy and hearing impairment syndromes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cataract / complications*
  • Cataract / congenital*
  • Cataract / diagnosis
  • Consanguinity
  • Diagnosis, Differential
  • Female
  • Hearing Loss, Sensorineural / complications*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Retinitis Pigmentosa / complications*
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics
  • Syndrome
  • Vestibular Diseases / complications*
  • Vestibular Diseases / diagnosis
  • Vestibular Diseases / genetics