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Ophthalmic Genetics|September 24, 2025
A new genotype of the IDH3A gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhoodNuria Rosell-Saiz, Antonio Sierra-Rivera, Jordi Tortosa-Carreres, et al.Ophthalmic Genetics|September 23, 2025
ADAMTSL4 ectopia lentis associated with Poland syndrome: a case reportDaniel Cool, Shuan Dai, Allister LeeOphthalmic Genetics|January 15, 2020
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindredsRizwan Khan, Rana Muhammad Kamran Shabbir, Irum Raza, et al.Ophthalmic Genetics|March 12, 2020
Corneal endothelial cell abnormalities in X-linked Alport syndromeEleanor Nicklason, Heather Mack, Jacqueline Beltz, et al.Ophthalmic Genetics|March 24, 2020
Illustration of tessellation in Down syndromeLavinia Postolache, Casper De Jong, Georges CasimirOphthalmic Genetics|July 9, 2021
Clinical and molecular findings in patients with pattern dystrophyAndrea Sodi, Dario Pasquale Mucciolo, Dario Giorgio, et al.Ophthalmic Genetics|July 20, 2021
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophyRaffi Aprahamian, T Yammine, N Salem, et al.Ophthalmic Genetics|June 23, 2022
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesiaArif O KhanOphthalmic Genetics|June 23, 2022
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese familyVanita Berry, Kaoru Fujinami, Kiyofumi Mochizuki, et al.Ophthalmic Genetics|January 4, 2021
Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndromeFrancesco Romano, Astrit Dautaj, Raffaele Antonio Esposito, et al.Pageof 185