RESUMEN

Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss. It is the most common form of autosomal recessive juvenile macular dystrophy. In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for genetic variations using next-generation sequencing. In the patient group, two genetic variants in exon 6 of ELOVL4, and three in exon 3 of PRPH2 were detected. All sequence modifications in both ELOVL4 and PRPH2 were recorded, including those of a non-pathogenic nature. In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis.

Asunto(s)

Proteínas del Ojo/genética , Degeneración Macular/congénito , Proteínas de la Membrana/genética , Periferinas/genética , Exones/genética , Femenino , Variación Genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Degeneración Macular/genética , Degeneración Macular/patología , Masculino , Mutación , Linaje , Enfermedad de Stargardt , Turquía