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Leber Congenital Amaurosis

From SNPedia

Leber congenital amaurosis (LCA) is the most common form of congenital blindness. LCA causes blindness from birth or during the first few months of life. The disorder affects 1 in 30,000 newborns. Mutations in at least 25 different genes, accounting for perhaps 70-80% of LCA cases, have been discovered; see the Table below for a list of the associated genes.[PMID 28689169OA-icon.png]

Three patients who have been treated with gene therapy in both eyes have experienced dramatic improvement in their vision. BBC News Science Magazine

A single mutation, rs281865192, accounts for 20% of the LCA cases that are based on mutations in the CEP290 gene.[PMID 16909394OA-icon.png]

Full name of condition Acronym Approx. Freq. OMIM (condition) MOI Gene OMIM (gene)
Leber congenital amaurosis-1 LCA1 10-20% 204000 AR GUCY2D 600179
Leber congenital amaurosis-2 LCA2 5-10% 204100 AR RPE65 180069
Leber congenital amaurosis-3 LCA3 3% 604232 AR SPATA7 609868
Leber congenital amaurosis-4 LCA4 <5% 604393 AR AIPL1 604392
Leber congenital amaurosis-5 LCA5 1-2% 604537 AR LCA5 611408
Leber congenital amaurosis-6 LCA6 5% 613826 AR RPGRIP1 605446
Leber congenital amaurosis-7 LCA7 1% 613829 AD, AR CRX 602225
Leber congenital amaurosis-8 LCA8 10% 613835 AR CRB1 604210
Leber congenital amaurosis-9 LCA9 unknown 608553 AR NMNAT1 608700
Leber congenital amaurosis-10 LCA10 15-20% 611755 AR CEP290 610142
Leber congenital amaurosis-11 LCA11 5% 613837 AD IMPDH1 146690
Leber congenital amaurosis-12 LCA12 <1% 610612 AR RD3 180040
Leber congenital amaurosis-13 LCA13 10% 612712 AD, AR RDH12 608830
Leber congenital amaurosis-14 LCA14 <1% 613341 AR LRAT 604863
Leber congenital amaurosis-15 LCA15 <1% 613843 AR TULP1 602280
Leber congenital amaurosis-16 LCA16 unknown 614186 AR KCNJ13 603208
Leber congenital amaurosis-17 LCA17 unknown 615360 AR GDF6 601147
Leber congenital amaurosis-18 LCA18 unknown 608133 AD, AR PRPH2 179605