PMID 14517951 2003 Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
PMID 10874631 1999 Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
PMID 15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
rs104893967 in
GUCA1A gene and
Macular dystrophy
PMID 9425234 1998 A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs751163782 in
RAB28 gene and
Macular dystrophy
PMID 23746546 2013 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
PMID 25356532 2015 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
rs1556313414 in
RP2 gene and
Macular dystrophy
PMID 18552978 2008 Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
rs80338903 in
USH2A gene and
Macular dystrophy
PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.