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. 2024 Aug 13;16(8):e66814. doi: 10.7759/cureus.66814

Table 1. Genetic Disorders: Genes and Their Functions.

RP: Retinitis pigmentosa, adRP: autosomal dominant RP

Gene Inheritance Pattern Protein Function Associated Conditions References
RHO Autosomal Dominant Rhodopsin Light-sensitive receptor involved in phototransduction adRP [23]
RPGR X-Linked RPGR Protein Involved in photoreceptor function and maintenance X-linked RP [40,41]
USH2A Autosomal Recessive Usherin Role in photoreceptor development and function Usher syndrome, non-syndromic RP [42,43]
EYS Autosomal Recessive Eyes Shut Important for photoreceptor structure and function Non-syndromic RP [30,44,45]
ABCA4 Autosomal Recessive ABCA4 Protein Involved in the visual cycle and lipid transport Stargardt disease, non-syndromic RP [46,47]
RPE65 Autosomal Recessive RPE65 Critical for the regeneration of visual pigments Leber congenital amaurosis, non-syndromic RP [36,37]
NRL Autosomal Recessive Neural Retina Leucine Zipper Transcription factor for rod photoreceptor development Transcription factor for rod photoreceptor development [48,49]
PRPH2 Autosomal Dominant Peripherin Structural protein in photoreceptor outer segments adRP, macular degeneration [50,51]
CRB1 Autosomal Recessive Crumbs Homolog 1 Important for maintaining photoreceptor structure Non-syndromic RP, Leber congenital amaurosis [52,53]
RP1 Autosomal Dominant RP1 Protein Involved in photoreceptor structure and function adRP [54,55]