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Macular Dystrophies and Stargardt Disease Panel

Macular dystrophies are characterized by localized degeneration in the macular area that causes a loss of visual acuity. The most common pathology in this group is Stargardt's disease or juvenile macular dystrophy, with a prevalence of 1: 10,000 individuals. Clinically it is characterized by the appearance of bronze pigment deposits in the macula. They are inherited following an autosomal dominant and autosomal recessive pattern. Most cases are caused by recessive mutations in the ABCA4 gene. DBGen's Panel on Macular Dystrophies and Stargardt's Disease includes the coding regions of 44 genes and more than 60 deep intronic mutations.

Main Pathologies


The panel includes the genes most often responsible for the following disorders:

  • Bestrophinopathy

  • Bothnia retinal dystrophy

  • Doyne honeycomb degeneration of retina

  • Fundus Albipunctatus

  • Pigmented paravenous chorioretinal atrophy

  • Retinoschisis

  • Sorsby Fundus Dystrophy

  • Stargardt disease

  • Vitelliform macular dystrophy type I

  • Vitelliform macular dystrophy type II

  • Vitreoretinochoroidopathy


Panel type and genes analyzed


MEDIUM

NGS sequencing of all coding and splice regions, comprising at least 20 nucleotides of the intron regions flanking the exon-intron boundaries.

ABCA4, AHR, ASRGL1, BEST1, C1QTNF5, C21ORF2, CDH3, CERKL, CFH, CLDN19, CNGB3, CRB1, CRX, CTNNA1, DRAM2, EFEMP1, ELOVL4, FBLN5, FSCN2, GUCA1B, HMCN1, IMPDH1, IMPG1, IMPG2, IRX1, KCNV2, MAPKAPK3, MFSD8, NMNAT1, PRDM13, PROM1, PRPH2, RAX2, RDH12, RDH5, RLBP1, RP1L1, RPGR, RS1, SLC24A1, TEAD1, TIMP3, TUBGCP4, TUBGCP6

NGS sequencing of reported mutations in non-coding regions:

ABCA4 (all introns), C21ORF2 c.643–23A>T; CNGB3 c.1663–1205G>A; IMPDH1 c.402+57G>A; PROM1 c.1059+363G>A, c.2077–521A>G; RDH12 c.848+82C>G; RPGR c.1905+1553A>C
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