Retinal pigment epithelial cells (RPE) constitute a simple layer of cuboidal cells that are
strategically situated behind the photoreceptor (PR) cells. The inconspicuousness of this …

Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. It is the most
common form of inherited retinal dystrophy, characterized by progressive degradation of …

Background Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are
inherited retinal diseases that cause early onset severe visual impairment. An accurate …

Abstract Introduction Inherited retinal dystrophies (IRDs) represent a genetically diverse
group of progressive, visually debilitating diseases. Adult and paediatric patients with vision …

Background Retinal dystrophies (RD) are a group of hereditary diseases that lead to
debilitating visual impairment and are usually transmitted as a Mendelian trait. Pathogenic …

Purpose: To investigate the course of inherited retinal degenerations (IRD) due to mutations
in the RPE65 gene. Methods: This longitudinal multicentric retrospective chart-review study …

Purpose Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous
disease resulting in progressive loss of photoreceptors that leads to blindness. To date, 36 …

Background: Little is known about genotype–phenotype correlations of RP1-associated
retinal dystrophies in the Japanese population. We aimed to investigate the genetic …

India is the sixth largest country of the world in size and with a population 1.21 billion
(http://www. censusindia. gov. in) has the distinction of being the second most populous …

Introduction Mutations in the retinal pigment epithelial 65 kilodalton protein (RPE65) gene
are associated with various inherited retinal diseases (IRDs), including Leber congenital …