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Ophthalmic Genetics|January 27, 2025
Whole genome sequencing of 10 families with optic disc drusenAlvilda H Steensberg, Chris Ovens, Clare L Fraser, et al.
Ophthalmic Genetics|February 10, 2025
Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literatureMaša Koce, Ana Fakin, Špela Markelj, et al.
Ophthalmic Genetics|January 21, 2025
Machine learning demonstrates clinical utility in distinguishing retinoblastoma from pseudo retinoblastoma with RetCam imagesOwen Cruz-Abrams, Ricardo Dodds Rojas, David H Abramson
Ophthalmic Genetics|November 11, 2024
Clinical and genetic characteristics of simple central serous chorioretinopathy according to ageTaiyo Shijo, Ayumi Fukui, Yoichi Sakurada, et al.
Ophthalmic Genetics|November 12, 2024
Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid useKathryn Abe-Ridgway, Michael A Puente
Ophthalmic Genetics|October 29, 2024
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutationKarim Sleiman, Souha Allam, Dany Akiki, et al.
Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of CEP250 gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
Ophthalmic Genetics|November 26, 2024
Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndromeYu Tian, Xiao-Xia Zhou, Su-Zhou Zhao, et al.
Ophthalmic Genetics|March 18, 2025
Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre studySandy Sao Su, Choi Mun Chan, Yasmin Bylstra, et al.
Ophthalmic Genetics|July 17, 2024
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmiaJinli Li, Qin Wang, Aijun Yang, et al.
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