TABLE 3.

Summary of Mutations Identified in Retinopathy Subjects With Cone Involvement

Mutation/predicted consequence	Diagnosis	Family identifier	cDNAa	Reference
RDS Arg172Trp	ad CDb, progressive	RFS139	514C>T, CGG→TGG	Wroblewski et al. [1994]
RDS Arg13Trp	Bardet Biedl	UTAD087	37C>T, CGG→TGG	Jacobson et al. [1995]
RDS Leu45Phe	CORD, isolated	UTAD064	133C>T, CTC→TTC	Jacobson et al. [1995]
RDS IVS2+3 A>T	ad MDc	Five familiesd	1068+3A→T	Sullivan et al. [1996]
CRX Glu80Ala	ad CORD	UTAD148, UTAD237	238A>C, GAG→GCG	Freund et al. [1997]
CRC Frameshift after Ala196	ad CORD	RFS014	585insC	Sohocki et al. [1998]
AIPL 1 Pro 351-354del	ad CORD	UTAD231, UTAD907	del1053-1064	Sohocki et al. [2000b]

^acDNA sequence numbering, counting the first nucleotide of the first codon as 1. These mutations were not present in 50 unaffected control individuals.

^badCORD, autosomal dominant cone-rod dystrophy; adCD, autosomal dominant cone degeneration; adMD, autosomal dominant macular degeneration.

^cMacular degeneration with peripheral involvement.

^dRFS091, RFS142, RFS156, RFS161, UTAD207.