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Ophthalmic Genetics|May 29, 2023
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, et al.
Ophthalmic Genetics|March 10, 2026
Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosaRuru Guo, Mengxue Song, Dandan Huang, et al.
Ophthalmic Genetics|February 19, 2026
Bilateral juvenile-onset cataracts associated with GCNT2 variantsKerollos M Kamel, Hannah L Scanga, Ken K Nischal
Ophthalmic Genetics|March 16, 2026
Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast AsiaPeijun Zhang, Mathieu Quinodoz, Charles Ong, et al.
Ophthalmic Genetics|March 30, 2026
Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotypeAlexander Hüther, Caroline L Sherman, Alexander Sumaroka, et al.
Ophthalmic Genetics|March 26, 2026
Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variantsVictor Lin, Eugene Yu-Chuan Kang, Laura Liu, et al.
Ophthalmic Genetics|April 16, 2026
Hereditary cataract associated with a novel variant in WFS1Bernardo Przysiezny, Thais de Melo Baccega, Erásio de Grácia Neto, et al.
Ophthalmic Genetics|April 16, 2026
A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblingsDominic S Ting, Graham E Holder, Melissa C Tien, et al.
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.
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