Potpourri of retinopathies in rare eye disease – A case series

This case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case series consists of five patients with varied ophthalmic manifestations and documentation of imaging in rare pediatric and adult retinopathies. Two patients had Kearns Sayre syndrome (KSS) based on the classical triad of external ophthalmoplegia, pigmentary retinopathy, and onset before 20 years of age. In one patient of KSS, the mitochondrial retinopathy was seen in an asymmetric pattern, and the second patient presented with KSS after being mis-diagnosed as myasthenia gravis elsewhere. A case of Senior Loken syndrome in pediatric age is described in this series with varied ophthalmic manifestations ranging from retinitis pigmentosa to orbital abscess. This series also enlightens features of Hallervorden Spatz syndrome presenting with bull’s eye maculopathy and a case of spino-cerebellar ataxia type 7 presenting with pigmentary retinopathy.

Desferrioxamine-related ocular toxicity: A case report.

A 29-year-old lady receiving repeated blood transfusions for β thalassemia since childhood, presented with rapidly deteriorating symptoms of night blindness and peripheral visual field loss. She was recently commenced on high-dose intravenous desferrioxamine for reducing the systemic iron overload. Clinical and investigative findings were consistent with desferrioxamine-related pigmentary retinopathy and optic neuropathy. Recovery was partial following cessation of desferrioxamine. This report highlights the ocular side-effects of desferrioxamine mesylate and the need to be vigilant in patients on high doses of desferrioxamine.

Pigmented Paravenous Retinochoroidal Atrophy(PPRCA)

Pigmented Paravenous Retinochoroidal Atrophy(PPRCA) is a type of pigmentary retinopathy that affects mostly both eyes symmetrically without inheritance. The PPRCA occurs in both progressive and non-progressive forms, but most cases are non-progressive forms. The fundus appearance of PPRCA is characteristic, with peripapillary pigmentary change as well as areas of retinochoroidal atrophy adjacent to the perivenular pigmentary change. The authors have studied a case of PPRCA which was diagnosed through the characteristic fundus appearance and other ophthalmological examinations.