Table 1.

Pathologic mutations in human RPE65 and RLBP1 and the associated clinical symptoms.

Gene	Disease	Onset	Mutation	Clinical manifestation	References
RPE65	Leber Congenital Amaurosis (AR)	Early childhood	Leu67Arg*, Tyr368Cys, Met1Thr, Gly40Ser, Arg91Trp, Glu102Lys, Asn321(1-bp ins), Val473Asp, Arg44Gln, Glu417Gln, Tyr144Asp, Trp350 + 3bp Ins, Tyr239Asp, Leu408Pro	Cone-rod Dystrophy, Absent ERG, nystagmus, photophobia, amaurotic pupils, Nyctalopia	Morimura et al., 1998; Simovich et al., 2001; Philp et al., 2007; Xu et al., 2012
	Retinitis Pigmentosa (AR)	Juvenile/Young adult	Arg91Trp, Ala132Thr, Leu341Ser, Glu404 – 4 bp Ins, Val452Gly, H68Y	Rod-cone dystrophy; Night Blindness, Delayed dark adaptation, Bone-spicule deposits, attenuated blood vessels, optic disc pallor, visual field loss, and abnormal, diminished, or unrecordable ERG	Marlhens et al., 1998; Morimura et al., 1998; Samardzija et al., 2008
	Retinitis Pigmentosa (AD)	Juvenile/Young adult	Asp477Gly	Intra-retinal pigmentary deposits, chorioretinal atrophy, Reduced or absent ERG	Bowne et al., 2011
	Fundus Albipunctatus (AR)	Childhood	IVS1+5g → a**	Retinal thinning, multiple uniform retinal yellowish-white retinal lesions (subretinal flecks)	Schatz et al., 2011
RLBP1	Retinitis Pigmentosa (AR)	Juvenile/Young adult	Arg150Gln	Rod-cone dystrophy; Night Blindness, Delayed dark adaptation, Bone-spicule deposits, attenuated blood vessels, optic disc pallor, visual field loss, and abnormal, diminished, or unrecordable ERG	Maw et al., 1997
	Bothnia dystrophy (AR)	Childhood	Arg234Trp, Arg233Trp	Central scotoma, maculopathy, deposits with an appearance similar to bone spicules Retinal thinning, Reduced or undetectable ERG	Nojima et al., 2012
	Retinitis punctata albescens (AR)	Childhood	(Gln278 - 1 bp del), Met226Lys, Arg 234Trp, Arg150Gln, Arg233Trp; Arg103Trp + Arg234Trp (CH), IVS3+2 T → C**+ Met225Lys (CH)	Rod-cone dystrophy, Night Blindness, nyctalopia, white punctata throughout the fundus	Burstedt et al., 1999; Morimura et al., 1999; Gränse et al., 2004
	Newfoundland rod-cone dystrophy (AR)	Childhood	IVS3+2 T → C**; 324G → A	Night blindness from infancy; progressive loss of peripheral, central, and color vision, Reduced or absent ERG, attenuation of retinal vessels	Eichers et al., 2002
	Fundus albipunctatus (AR)	Childhood	Arg150Gln; Gly116Arg	Night Blindness, multiple uniform retinal yellowish-white retinal lesions (subretinal flecks), macular dystrophy	Naz et al., 2011

Residue conserved in all zebrafish RPE65 orthologs (bold).

^*Residue conserved in zebrafish rpe65c only.

^**Intron sequence.