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Ophthalmic Genetics|April 16, 2026
Gain of function in BEST1: photoreceptor changes and myopia in autosomal dominant vitreoretinochoroidopathyRoselind L Ni, Rebecca Procopio, Ezann Siebert, et al.
Ophthalmic Genetics|July 17, 2004
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndromeBrian P Brooks, Sayoko E Moroi, Catherine A Downs, et al.
Ophthalmic Genetics|June 1, 2026
Gillespie syndrome caused by a novel ITPR1 gene variant: a phenotype-genotype correlationMeghal Gagrani, Kelly Schooping Tripi, Hannah L Scanga, et al.
Ophthalmic Genetics|April 25, 2007
Attitudes regarding predictive testing for retinitis pigmentosaEedy Mezer, Riyana Babul-Hirji, Richard Wise, et al.
Ophthalmic Genetics|June 3, 2026
Two Turkish families with type 1 Stickler syndrome carrying novel COL2A1 truncating variants: a case seriesEsra Kızıldağ Özbay, Aysel Tekmenuray-Ünal, Şenol Sabancı, et al.
Ophthalmic Genetics|March 30, 2021
Did Edgar Degas have Stargardt disease?Z A Karcioglu, E M Stone, M F Marmor
Ophthalmic Genetics|June 16, 2026
Pediatric hereditary optic neuropathies in the United Arab EmiratesArif O Khan
Ophthalmic Genetics|September 1, 2026
PCARE-associated inherited retinal diseases: clinical and molecular insights from a Portuguese populationPatrícia Barros da Silva, Maria Filipa Madeira, Rita Anjos, et al.
Ophthalmic Genetics|September 1, 2026
Intrafamilial phenotypic variability in CRX-associated retinopathy due to a frameshift variant (c.661del)Serra Luigi, Gallo Biancamaria, Karali Marianthi, et al.
Ophthalmic Genetics|September 18, 2026
Isolated rod-cone dystrophy in homozygous IFT140 missense allele p.Tyr923AspCarl Eiselen, Morag Shanks, Sian Sperring, et al.
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