Classification for Leber's Congenital Amaurosis

As more and more genes causing LCA are being discovered, attention is shifted from this disorder as a whole to its subtypes, each caused by mutations in one specific gene. At the LCA conference in Cleveland, one of the speaker said that in a few years we will probably be talking about each subtype separately, and stop using a collective name for them.

Below is the classification of the 11 types of LCA currently known, with the relative gene and chromosome. This is pretty interesting because it provides some form of classification, as well as a complete and updated list of the LCA genes known to date. This information is taken from the OMIM (Online Mendelian Inheritance in Man) database, so it couldn’t be more reliable. You can find this information, plus links to each gene, at


Fran


LCA1
caused by mutation in the gene encoding retinal guanylate cyclase (GUCY2D, on chromosome
17

LCA2
caused by mutation in the RPE65 gene (RPE65, on chromosome 1

LCA3
caused by mutation in the RDH12 gene, on chromosome 14

LCA4
caused by mutation in the AIPL1 gene, on chromosome 17

LCA6
caused by mutation in the RPGRIP1 gene, on chromosome 14

LCA7
caused by mutation in the CRX gene, on chromosome 19

LCA8
caused by mutation in the CRB1 (CRUMBS) gene, on chromosome 1q

LCA10
caused by mutation in the CEP290 gene, on chromosome 12 (may account for as many as 21% of cases of LCA)

LCA11
caused by mutation in the IMPDH1 gene, on chromosome 7q


Additional loci for LCA have been mapped:
LCA5, to chromosome 6q11-q16, and
LCA9, to chromosome 1p36.