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March 1987

Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma: A New Recessive Syndrome

Author Affiliations

From the Departments of Ophthalmology, Columbia University (Drs MacKay, Shek, and Gouras), New York University School of Medicine (Dr Carr), and Manhattan Eye, Ear, and Throat Hospital (Dr Yanuzzi), New York.

Arch Ophthalmol. 1987;105(3):366-371. doi:10.1001/archopht.1987.01060030086032

• 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.