Table 1.

Phenotypes of RDS mutations characterized in this study.

Mutation	Patient Phenotype	Refs	In Vitro/Murine Phenotype	Refs
C150S	N/A		No intermolecular disulfide bonds No formation of higher-order oligomeric complexes Does not interact with ROM-1 in cones Dominant-negative structural and functional degeneration in cones	[10, 22]
R172W	Macular Dystrophy, Central Areolar Choroidal Dystrophy	[38, 39, 50]	Forms intermolecular disulfide bonds Formation of normal complement of RDS complexes in vivo Normal interactions with ROM-1 Dominant-negative structural and functional degeneration in cones.	[27, 28, 44]
C214S	Autosomal Dominant Retinitis Pigmentosa	[30]	Forms aggregates in vitro Does not interact with ROM-1 in vitro or in vivo. Causes haploinsufficiency-like phenotype in vivo	[22, 29, 44]
N244H	Macular Dystrophy	[32]	Forms intermolecular disulfide bonds Normal interactions with ROM-1 Not studied in vivo	[43]
N244K	Autosomal Dominant Retinitis Pigmentosa, Bull’s Eye Maculopathy, Cone-Rod Dystrophy	[32, 40]	Forms aggregates in vitro Does not bind ROM-1 Not studied in vivo	[43]