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] |