Published online by Cambridge University Press: 01 August 2014
A family is described in which spastic paraplegia and retinal degeneration were observed in 5 out of 11 sibs in one generation. All affected members of this family had the onset of bilateral ocular symptoms during the fourth to fifth decade. Visual impairment was slowly progressive and ranged from 20/25 to 20/100.
There was a macular and perimacular speckling with small, irregular, discrete spots and central pigment proliferation, at the level of the pigment epithelium. Fluorescein angiography revealed patches of proliferating retinal pigment epithelium blocking transmission of fluorescein, surrounded by a larger area of disruption of the retinal pigment epithelium giving a “window-effect” choroidal pattern. The right macula showed a nonspecific, nonfluorescent, reticular pattern.
The most likely explanation of the ocular findings was a retinal degeneration involving the retinal pigment epithelium and/or the chorio-capillaries. Extensive laboratory work was negative.
This work was supported in part by The Moses H. Cone Memorial Hospital Grant for Research.
Dr. A. Todorov was a post-doctoral fellow supported by training Grant No GM 00795 from the National Institute of General M:dical Sciences.