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Ophthalmic Genetics|November 30, 2020
OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletionChuanbin Sun, Xiaoyu Wu, Hai-Xia Bai, et al.
Ophthalmic Genetics|October 1, 2013
X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8)Jonathan Han, Jonathan W Young, Ricardo F Frausto, et al.
Ophthalmic Genetics|December 31, 2013
Association of LOC387715/ARMS2 (rs10490924) Gene Polymorphism with Age-Related Macular Degeneration in the Brazilian PopulationFabio Endo Hirata, José Paulo Cabral de Vasconcellos, Flávio MacCord Medina, et al.
Ophthalmic Genetics|March 17, 2021
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate modelTomas S Aleman, Erin C O'Neil, Keli O'Connor, et al.
Ophthalmic Genetics|November 22, 2021
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with KeratoconusAlessandro Garcia Lopes, Gildásio Castello de Almeida, Marcos Paulo Miola, et al.
Ophthalmic Genetics|December 13, 2021
Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)Kent W Small, Lee M Jampol, Benjamin Bakall, et al.
Ophthalmic Genetics|November 9, 2021
Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotypeSusmita Chowdhury, Roopam Duvesh, Manojkumar Kumaran, et al.
Ophthalmic Genetics|November 9, 2021
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosisChetan Khantibai Patel, Suzanne Broadgate, Ahmed Shalaby, et al.
Ophthalmic Genetics|December 6, 2021
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish populationGokhan Ozan Cetin, Ebru Nevin Cetin, Tunahan Akyol, et al.
Ophthalmic Genetics|January 14, 2022
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini reviewTomoyasu Kayazawa, Kazuki Kuniyoshi, Yoshikazu Hatsukawa, et al.
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