Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma

MacKay et al. (1987) described a seemingly 'new' autosomal recessive syndrome, 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. Seven patients in 1 family were affected. Each patient had hyperlopia and nanophthalmos with diffuse scleroidal thickening on ultrasound. Younger patients had slitlike anterior chamber angles; older patients developed progressive synechial angle closure and eventual glaucoma. On electroretinography, 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. Four brothers in 1 sibship were affected; one of the brothers, married to a first cousin, had 3 affected children out of 4, including identical twins.