TABLE 1.

Information on summary of mutation studies in Indian RP patients.

Number of patients	Significant findings	Gene	Method	Variant information available	References
14 Families (autosomal recessive RP) and 100 cases (sporadic RP)	12 Novel mutations	EYS	Whole exome sequencing of proband followed by targeted analysis in family members	Yes	Di et al., 2016
1 Family and 100 cases (sporadic)	4 Novel mutations	CRB1		Yes	Yang et al., 2016
1 Family (autosomal recessive RP)	1 Novel mutation	MERTK		Yes	Bhatia et al., 2018b
1 Family (non-syndromic autosomal dominant RP)	1 Novel mutation	PRPF31	Targeted sequencing	Yes	Bhatia et al., 2018a
1 Family (autosomal recessive RP)	1 Novel mutation	MERTK	Microarray	Yes	Srilekha et al., 2015
2 Families (autosomal recessive RP) and 100 cases (sporadic RP)	1 Novel mutation	FAM161A	Whole exome sequencing	Yes	Zhou et al., 2015
2 Families (autosomal recessive RP)	1 Novel mutation	NR2E3	Microarray	Yes	Kannabiran et al., 2012
101 Cases (48 isolated cases and 53 autosomal dominant RP cases)	2 Novel mutations	PRPF31	Capillary sequencing	Yes	Gandra et al., 2008