Recessive familial spastic paraplegia with retinal degeneration

Abstract

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 4th to 5th 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.