Table 3

Classification of patients according to clinical significance of mutations

Mutated genes	Group	Allele 1	Allele 2	Homo	Compound hetero	Hetero	Total
LCA/juvenile RP genes	1	Reported	Reported	15	11		26
	2	Novel LOF	Novel LOF	8	5		13
		Novel LOF	Reported		8		8
		Novel LOF				1	1
	3	Novel missense	Novel missense	2	2		4
		Novel missense	Reported		3		3
		Novel missense	Novel LOF		3		3
Retinal disease genes inconsistent with initial diagnosis	1	Reported	Reported	7			7
	1	Reported				1	1
	2	Novel LOF	Novel LOF	1*	1		2
	3	Novel missense	Novel missense	4			4
Total				37	33	2	72

The numbers in the four columns on the right represent the number of patients in each category.
*This patient carried a hemizygous mutation.
Compound hetero, compound heterozygous; Hetero, Heterozygous; Homo, homozygous; LCA, Leber congenital amaurosis; RP, retinitis pigmentosa.