Leber Congenital Amaurosis

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 28689169]

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 16909394]

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