Retinal degenerative disease (Retinitis pigmentosa) associated with nonocular abnormalities: a case series in Niger

Abstract

Retinitis pigmentosa (RP) is a genetic abnormality affecting the retina cells and is responsible for a progressive visual impairment which at the end results in an irreversible blindness. In some rare cases, this inherited disease can be associated with other systemic abnormalities. In this report, three different families were presented with familial syndromic RP: Usher syndrome (RP and congenital deafness) reported in three members of the same family: RP associated with Marfan syndrome and RP associated with macular dystrophy in two siblings. All our patients are children from first-degree consanguineous marriages with no previous history of blindness or eye disease in each family. This case series demonstrates the variability of systemic associations with RP and its occurrence in consanguineous marriages.