TABLE 1.

Photoreceptor Morphogenesis and Human Disease

Process	Gene Affected	Disease	References
Membrane Polarity	CRB1	Leber Congenital Amurosis	(den Hollander et al., 2001)
		Retinitis Pigmentosa	(den Hollander et al., 1999; den Hollander et al., 2004)
Transport in the IS	Rod Opsin*	Autosomal Dominant Retinitis Pigmentosa	(Bessant et al., 1999)
	Peripherin/Rds*	Macular Distrophy	(Nichols et al., 1993)
Transport in the	RP1	Retinitis pigmentosa	(Pierce et al., 1999)
OS/Ciliogenesis	RPGR	Retinitis pigmentosa	(Meindl et al., 1996)
	RPGRIP	Leber Congenital Amurosis	(reviewed in Koenekoop, 2005)
	BBS loci	Bardet Biedl Syndrome	(reviewed in Katsanis, Katsanis)]
	NPHP loci	Senior Locken Syndrome	(O’Toole et al., 2006; reviewed in Hildebrandt and Zhou, 2007)
Membrane architecture in the OS	Rod opsin	Retinitis Pigmentosa	(Rosenfeld et al., 1992; Kumaramanickavel et al., 1994)
	Peripherin/rds	Retinitis Pigmentosa	(Farrar et al., 1991; Kajiwara et al., 1991; reviewed in Goldberg, 2006)
	ROM-1	Retinitis Pigmentosa	(Kajiwara et al., 1994)
	Prominin	Macular Degeneration	(Yang et al., 2008)
	Spacemaker	Retinitis Pigmentosa	(Collin et al., 2008)
Synapse Fomation and Maintenance	Cacna1f	Congenital Stationary Night Blingness	(Strom et al., 1998)
	Munc119	Cone rod dystrophy	(Kobayashi et al., 2000)
	RIM1	Cone rod dystrophy	(Johnson et al., 2003; Michaelides et al., 2005)
	Dystrophin	Visual dysfunction associated with Duchenne muscular dustrophy.	(Lenk et al., 1996)

^*These defects involve amino acid sequences that mediate transport to the outer segment.