Condition: Macular dystrophy


rs1553192682 in ABCA4 gene and Macular dystrophy PMID 25312043 2015 Clinical and molecular characteristics of childhood-onset Stargardt disease.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 15614537 2005 The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

PMID 11527935 2001 Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PMID 20960624 2008 Gene symbol: ABCA4. Disease: Macular dystrophy.

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 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

rs281865239 in BEST1;LOC107984334 gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs724159985 in CDH3 gene and Macular dystrophy PMID 14708629 2003 Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.

rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1201356843 in CRB1 gene and Macular dystrophy PMID 29391521 2018 A clinical and molecular characterisation of CRB1-associated maculopathy.

PMID 17297678 2006 Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510.

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.

rs267606875 in IMPG2 gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs137853006 in PROM1 gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs139185976 in PRPH2 gene and Macular dystrophy PMID 9279751 1997 RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

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.