• 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, <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.
MacKay CJ, Shek MS, Carr RE, Yanuzzi LA, Gouras P. Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, and Angle Closure GlaucomaA New Recessive Syndrome. Arch Ophthalmol. 1987;105(3):366-371. doi:10.1001/archopht.1987.01060030086032