Familial spastic paraplegia and maculopathy with juxtafoveolar retinal telangiectasis and subretinal neovascularization

Purpose: To describe a previously unreported condition involving familiar s pastic paraplegia and a peculiar type of maculopathy, Methods: Two pairs of siblings were studied. All four cases underwent seria l clinical examinations, fundus photography, and fluorescein angiography. T wo siblings had extensive investigations, Results: Characteristics of the four cases include spastic paraplegia diagn osed in the first decade of life and visual loss at about age 9 due to a ma culopathy with an abnormal vascular complex. In the early stages, parafovea l dilatation of the capillary network was noted. The later stages were char acterized by cystic macular degeneration, and seven of eight eyes developed fibrovascular scars with retinochoroidal anastomoses, pigment migration, a nd atrophic changes. In two siblings, electro-oculographic findings were su bnormal, whereas results of electroretinography, magnetic resonance imaging of the brain and spinal cord, and metabolic and karyotype studies were nor mal. These siblings were an Indonesian girl and boy; the other siblings wer e white males. There was no consanguinity of the parents and family history was unremarkable. Conclusions: This study suggests that the two pairs of siblings have an ide ntical familial and probably recessive disorder with neurodegenerative chan ges that have caused paraplegia and a peculiar maculopathy associated with anomalous retinal vascular complexes, retinochoroidal anastomoses, and subr etinal neovascularization.