Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis

There were no pathogenic variants or variants of unknown significance identified. Genes included in the testing: ABCA4

A case of pentosan polysulfate maculopathy originally diagnosed as stargardt disease

Sequencing of the coding region of ABCA4 and of the entire ABCA4 locus revealed one heterozygous ABCA4 variant c.3113C>T; p.(Ala1038Val). No other (likely) pathogenic coding or noncoding ABCA4 variants including copy number variants were identified.

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

variant in exon 44 presented with contrasting phenotypes; from early‐onset cone‐rod dystrophy

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

Focal choroidal excavation in Stargardt’s dystrophy