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Ophthalmic Genetics|December 16, 2017
Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1S Dulz, E Bigdon, Y Atiskova, et al.
Ophthalmic Genetics|May 16, 2022
Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case reportMaría Camila Sierra-Cote, Juliana Muñoz-Ortiz, Juan Sebastián Botero-Meneses, et al.
Ophthalmic Genetics|May 26, 2022
Variability of retinopathy consequent upon novel mutations in LAMA1Elena R Schiff, Nancy Aychoua, Savita Nutan, et al.
Ophthalmic Genetics|March 3, 2020
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmosGiacomo Maria Bacci, Sara Bargiacchi, Pina Fortunato, et al.
Ophthalmic Genetics|March 4, 2020
Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanismsVeronika Vaclavik, Francine Naderi, André Schaller, et al.
Ophthalmic Genetics|September 17, 2020
A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered regionMiki Hiraoka, Aki Ishikawa, Fumiko Matsuzawa, et al.
Ophthalmic Genetics|January 7, 2021
Clinical trial design for neuroprotection in RHO autosomal dominant retinitis pigmentosa; outcome measure considerationsBenjamin Otte, Chris Andrews, Gabrielle Lacy, et al.
Ophthalmic Genetics|November 30, 2020
A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndromeSirisha Senthil, Sarmeela Sharma, Sushma Vishwakarma, et al.
Ophthalmic Genetics|December 4, 2020
A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese familyYinhui Yu, Jingjie Xu, Yue Qiao, et al.
Ophthalmic Genetics|December 11, 2020
Living with Stargardt disease: insights from patients and their parentsAude Roborel de Climens, Béatrice Tugaut, Carla Dias Barbosa, et al.
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