Biallelic variants in the RDH11 gene, a retinol dehydrogenase involved in the visual cycle and systemic retinoid homeostasis, were initially implicated in a rare condition characterized by retinal dystrophy, early-onset cataract, neurodevelopmental anomalies and myopathy, through single-family reports, with this associ...
Maria-Gerasimoula Karali, Susanne Kohl, F. Testa et al.· European Journal of Human Ge...· 0 citations
KATNA1 is established as a novel gene associated with adMD, possibly accounting for ~4% of all unresolved MD cases, and associate defective microtubule severing and cytoskeletal dysregulation with macular degeneration.
Carlo Rivolta, Karolina Kaminska, Abigail R. Moye et al.· Research Square· 0 citations
Findings support the need to include XXYLT1 in clinical IRD gene panels, one of the identified genes, as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts.
Minna Kraatari-Tiri, Hina Ishtiaq, J. Tyrmi et al.· JAMA ophthalmology· 0 citations
Findings further support AP5B1 as a cause of macular dystrophy, identify p.(Leu785Pro) as a relatively frequent pathogenic allele in individuals of European and Ashkenazi Jewish ancestry, and expand the associated phenotypic spectrum to include both isolated macular dystrophy and possible syndromic presentations.
Petra Liskova, L. Dudakova, Karolina Kaminska et al.· HGG advances· 0 citations
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