Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome
C. J. MacKay, M. S. Shek, R. E. Carr, L. A. Yanuzzi and P. Gouras
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.