Current age 26 years
Case#: Eldest sister/Female/Onset at 3yo
DiseaseAssertion: SLC26A2
FamilyInfo:Family pedigree showing consanguinity of the proband's parents. The osteochondrodysplasia genotype, derived from a homozygous variant in the SLC26A2 gene and compound heterozygous variants in the ABCA4 gene, is responsible for the retinal phenotype.
CasePresentingHPOs: n/a
CaseHPOFreeText:severe macular atrophy (Heidelberg Spectralis, Heidelberg Engineering; Figure 3). Multifocal ERG responses were severely reduced at all rings in both eyes
GenotypingMethod: genetic screening by next‐generation sequencing (NGS) was performed on a panel of genes involved in retinal dystrophy and macular degeneration
Varient: ABCA4 (RefSeq: NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu))
inferred_gene_hgnc:34
inferred_gene_source:RefSeq
ClinGen ABCA4 Annotations