About macular dystrophies and Stargardt disease
Macular dystrophy exhibits autosomal dominant and autosomal recessive pattern of inheritance. It is characterized by a localized impairment in the macula of the retina, which causes a loss of visual acuity. The most common pathology in this group is Stargardt disease, or juvenile macular dystrophy, with a prevalence of 1:10,000. Clinically it is characterized by the appearance of bronze-colored pigment deposits in the macula. Most of these cases are caused by recessive mutations in the ABC4A gene.
ABCA4, AHR, BEST1, C1QTNF5, CDH3, CERKL, CFH, CNGB3, CRB1, EFEMP1, ELOVL4, FSCN2, GUCA1B, IMPG1, IMPG2, IRX1, KCNJ13, PRDM13, PROM1, PRPH2, RAX2, RBP3, RDH12, RDH5, RLBP1, RP1L1, RPGR, RPGRIP1, RS1, TIMP3
Non-coding regions included: ABCA4 all introns, RPGRIP1 promotor
A detailed genetic report that includes the genetic variants identified and genetic counseling will be provided. Supporting information will be exhaustive based on bibliographical studies and database analyses and, especially, on our 25 years of experience researching the genetics of hereditary eye diseases.
The test will be performed once payment is made and the signed informed consent and the sample are received. The report will be delivered 12 to 14 weeks after the above conditions are satisfied.
The diagnostic strategy relies on the automated and simultaneous sequencing of DNA on Illumina HiSeq 2000 sequencers that are specially designed for this kind of high-performance analysis. Our panels have been designed to prioritize the genomic regions associated with the hereditary eye diseases indicated in this text.
The likely pathogenic nucleotide variants are verified using Sanger sequencing. We check that their frequency in the control population is below 1% and that they meet the pathogenicity predictions as per established bioinformatics algorithms (SIFT, LRT, MutationTaster, PolyPhen2, CADD and NetGene2).