Association between Stargardt's disease and Retinitis Pigmentosa: Is common genetic mutation responsible? [Stargardt hastaliği ve Retinitis Pigmentosa birlikteliği: Ortak genetik mutasyon mu sorumlu?]

Abstract

In this study the association between Stargardt's disease (STGD) and Retinisitis Pigmentosa (RP), both of which is seen in a case with a mutated ABCA4 gene, is analysed. Fundus exaimination was performed to a 23 years old male whose dark vision are severely impaired and found beaten metal appearance on his right and left macula with bony specules in peripheral retina. Therefore fundus fluorescein angiography and electrophysiologic tests was performed to him. He was diagnosed with both STGD and RP based on clinical and diagnostic test findings. Genetic research of the patient revealed a mutation in ABCA4 gene. We consider that a possible association between STGD and RP in patients diagnosed with STGD or RP and that the major role of genetic research in diagnosis of retinal diseases should be kept in mind.