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

Cone-Rod Homeobox Protein (CRX)

OMIM Entry
Entrez Entry

Located on Human Chromosome 19 at 48.33 Megabases.
Mutations in CRX account for 1% of LCA cases

Leber Congenital Amaurosis 5 (LCA5)

OMIM Entry
Entrez Entry

Located on Human Chromosome 6 at 80.19 Megabases.
Mutations in LCA5 account for 1.8% of LCA cases

Retinol Dehydrogenase 12 (RDH12)

OMIM Entry
Entrez Entry

Located on Human Chromosome 14 at 68.2 Megabases.
Mutations in RDH12 account for 2.7% of LCA cases

Retinitis Pigmentosa GTPase Regulator (RPGRIP1)

OMIM Entry
Entrez Entry

Located on Human Chromosome 14 at 21.79 Megabases.
Mutations in RPGRIP1 account for 4.2% of LCA cases

Aryl Hydrocarbon-Interacting Protein-Like 1 (AIPL1)

OMIM Entry
Entrez Entry

Located on Human Chromosome 17 at 6.34 Megabases.
Mutations in AIPL1 account for 5.3% of LCA cases

Retinal Pigment Epithelium 65 (RPE65)

OMIM Entry
Entrez Entry

Located on Human Chromosome 1 at 68.89 Megabases.
Mutations in RPE65 account for 6% of LCA cases

Inosine Monophosphate Dehydrogenase 1 (IMPDH1)

OMIM Entry
Entrez Entry

Located on Human Chromosome 7 at 128.03 Megabases.
Mutations in IMPDH1 account for 8.3% of LCA cases

Crumbs Homolog 1 (CRB1)

OMIM Entry
Entrez Entry

Located on Human Chromosome 1 at 197.33 Megabases.
Mutations in CRB1 account for 10% of LCA cases

Guanylate Cyclase 2D (GUCY2D)

OMIM Entry
Entrez Entry

Located on Human Chromosome 17 at 7.9 Megabases.
Mutations in GUCY2D account for 12% of LCA cases

Centrosomal Protein 290kDa (CEP290)

OMIM Entry
Entrez Entry

Located on Human Chromosome 12 at 88.44 Megabases.
Mutations in CEP290 account for 15% of LCA cases