Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome

Arch Ophthalmol. 1987 Mar;105(3):366-71. doi: 10.1001/archopht.1987.01060030086032.

Abstract

Seven related patients had a progressive pigmentary retinal degeneration, characterized by nyctalopia, visual field restriction, and cystic macular degeneration in younger patients and a macula of nonspecific atrophic appearance in older patients. In addition, each patient had high hyperopia (+9.50 to +16.00) and nanophthalmos (axial lengths, less than 20 mm), with diffuse choroidal thickening on ultrasound. Younger patients had slitlike anterior chamber angles; older patients developed progressive synechial angle closure and eventual glaucoma. Chromosomes were normal. On electroretinographic testing, younger patients had absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times; older patients had severely diminished or extinguished electroretinograms. This family appears to represent a newly recognized autosomal-recessive syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Electroretinography
  • Female
  • Fundus Oculi
  • Glaucoma / diagnosis
  • Glaucoma / genetics*
  • Glaucoma / physiopathology
  • Humans
  • Macular Edema / diagnosis
  • Macular Edema / genetics*
  • Macular Edema / physiopathology
  • Male
  • Microphthalmos / diagnosis
  • Microphthalmos / genetics*
  • Microphthalmos / physiopathology
  • Middle Aged
  • Pedigree
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / physiopathology
  • Visual Acuity