Visual Representations of the Visual Cycle

Leber Congenital Amaurosis 9 (LCA9)

OMIM Entry
Entrez Entry

Spermatogenesis-Associated Protein 7 (SPATA7)

OMIM Entry
Entrez Entry

Located on Human Chromosome 14 at 88.88 Megabases.

Retinal Degeneration 3 (RD3)

OMIM Entry
Entrez Entry

Located on Human Chromosome 1 at 211.65 Megabases.
Mutations in RD3 account for 0.1% of LCA cases

Lecithin Retinol Acyltransferase (LRAT)

OMIM Entry
Entrez Entry

Located on Human Chromosome 4 at 155.67 Megabases.
Mutations in LRAT account for 0.5% of LCA cases

MER Receptor Tyrosine Kinase Precursor (MERTK)

OMIM Entry
Entrez Entry

Located on Human Chromosome 2 at 112.66 Megabases.
Mutations in MERTK account for 0.6% of LCA cases

Tubby Like Protein 1 (TULP1)

OMIM Entry
Entrez Entry

Located on Human Chromosome 6 at 35.47 Megabases.
Mutations in TULP1 account for 0.8% of LCA cases