Table 4. Disease genes: Leber congenital amaurosis.

Gene~	Inheritance*	Potential function	Estimated frequency	Studies
GUCY2D	Recessive	Phototransduction	6-21%	(209,210)
RDH12	Recessive	Phototransduction	~4%	(14,15)
LRAT	Recessive	Retinal metabolism	<1%	(28,211)
RPE65	Recessive	Visual cycle	3-16%	(209,212)
RD3	Recessive	Splicing	Rare	(213,214)
CRX	Dominant & Recessive	Transcription factor	~3%	(215,216)
OTX2	Dominant	Transcription factor	Rare	(217)
CRB1	Recessive	Tissue development and maintenance	10%	(209,218)
TULP1	Recessive	Tissue development & maintenance	1-2%	(209,219)
IMPDH1	Dominant	Regulates cell growth	Rare	(72,220)
GDF6	Recessive	Growth factor	Unknown	(221)
CABP4	Recessive	Cell signalling	Unknown	(222)
AIPL1	Recessive	Transport, protein trafficking	4-8%	(178,209)
CEP290	Recessive	Centrosomal & ciliary protein	<30%	(223)
IQCB1	Recessive	Interacts with RPGR & connecting cilia	Unknown	(224)
LCA5	Recessive	Centrosome protein with ciliary function	1-7%	(225,226)
NMNAT1	Recessive	Photoreceptor maintenance	5%	(208,227)
RPGRIP1	Recessive	Interacts with RPGR	~5%	(209,228)
KCNJ13	Recessive	Potassium channel	Unknown	(229)
DTHD1	Recessive	Unknown	Unknown	(120)
SPATA7	Recessive	Unknown	2%	(119,230)

^~, adapted from sources http://www.ncbi.nlm.nih.gov/books/NBK1298/ & https://sph.uth.edu/Retnet/); *, dominant, autosomal dominant; recessive, autosomal recessive.