|common in clinvar
|Unaffected carrier of *possible* cone-rod mutation
|Recessive genotype uncertain pathogenicity
|Cone-rod dystrophy 13 not provided not specified Leber congenital amaurosis Cone-Rod Dystrophy
|Cone-rod dystrophy 13 not provided not specified Leber congenital amaurosis Cone-Rod Dystrophy, Recessive
|OMIM Allelic Variant UniProtKB (protein)
|RCV000005275.4, RCV000086240.1, RCV000174586.3, RCV000272533.1, RCV000327555.1,
[PMID 18936139] Mutation survey of known LCA genes and loci in the Saudi Arabian population.
This SNP has been associated with recessive cone-rod dystrophy but is probably benign:
A study [PMID 12920076] of four consanguineous Pakistani families found that recessive cone-rod dystrophy (CRD) segregated with this SNP, which results in a Alanine to Serine missense mutation at the amino acid level in the RPGRIP1 protein. CRD manifests as an initial loss of colour vision (cone mediated functions) and of visual acuity, usually from the first or second decade of life, is followed by night blindness (largely rod mediated) and loss of peripheral visual fields. CRD patients also demonstrate severe photophobia.
However, a second study [PMID 16272259] studying mutations in several genes associated with visual disorders found the SNP has the same frequency in both case and control populations, indicating that this was not the causal mutation in the disease in the Pakistani group.