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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.
Ophthalmic Genetics|July 3, 2024
Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophyNitya T Rao, Alexander Sumaroka, Arlene J Santos, et al.
Ophthalmic Genetics|August 16, 2024
A novel homozygous nonsense variant in CABP4 causing stationary cone/rod synaptic dysfunctionBlake M Hauser, Emily Place, Rachel Huckfeldt, et al.
Ophthalmic Genetics|August 16, 2024
Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patientRichard N Sather, Caroline Brown, Sandra R Montezuma
Ophthalmic Genetics|June 4, 2024
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literatureAashish Batheja, Julie Bayer-Vile, Evan Silverstein, et al.
Ophthalmic Genetics|June 5, 2024
Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testingLauren Hucko, Natasha F S da Cruz, Patrick Staropoli, et al.
Ophthalmic Genetics|June 4, 2024
Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologistsFulya Yaylacioglu Tuncay, Eda Karaismailoglu, Şengül Özdek
Ophthalmic Genetics|April 11, 2024
Consolidating data on the association of IL-6 and IL-10 polymorphisms with the development of glaucoma: a meta-analysisAhmadreza Golshan-Tafti, Mohammad Bahrami, Reyhaneh Mohsenzadeh-Yazdi, et al.
Ophthalmic Genetics|January 25, 2026
A novel EYS c.6192-1G>A variant presents ideal base editing therapeutic opportunitiesMaria Kaukonen, Imran H Yusuf, Federica E Poli, et al.
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