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Ophthalmic Genetics|January 7, 2025
ICAM-1 K469E gene polymorphism, genotype-phenotype correlation, and retinopathy in Type 2 diabetes mellitus patientsSanjana B Singh, Sudha Ramalingam, Ramalingam Sankaran, et al.Ophthalmic Genetics|January 2, 2025
Two novel variants in ALDH1A3 associated with anophthalmia and congenital cystic eyeRita Rodrigues, Jorge Meira, Vítor Leal, et al.Ophthalmic Genetics|December 8, 2024
Highly asymmetric early presentation of FEVR requiring enucleationKirill Zaslavsky, Ajoy Vincent, Birgit Betina Ertl-Wagner, et al.Ophthalmic Genetics|December 26, 2024
Atypical angioid streaks in a patient with a monoallelic ABCC6 mutationLandon J Rohowetz, Jesse D Sengillo, Audina M BerrocalOphthalmic Genetics|December 16, 2024
Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case reportAliénor Vienne-Jumeau, Julien Tilleul, Viviane Tilleul-Hatwell, et al.Ophthalmic Genetics|November 22, 2024
Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literatureJessica Eskander, Ariana Allen, Xiao Yi Zhou, et al.Ophthalmic Genetics|February 25, 2025
Analysis of early-onset glaucoma genes in primary congenital glaucoma patients residing in North India identifies an additional case with THBS1 Arg1034CysBindu I Somarajan, Renu Singh, Arnav Panigrahi, et al.Ophthalmic Genetics|October 29, 2024
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndromeBrajesh Lahri, Renu Singh, Shikha Gupta, et al.Ophthalmic Genetics|October 16, 2025
NRL-associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature searchMarium Raza, Elisa E Cornish, Chris Ovens, et al.Ophthalmic Genetics|September 30, 2025
A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2Mark Lindquist, Viridiana Hernandez-Lopez, Debarshi MustafiPageof 185