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Ophthalmic Genetics|September 18, 2026
Beyond corneal structure in Noonan syndrome: topographic, tomographic, and optical findingsHavvanur Bayraktar, Petek Aksöz, Tuna Eren Esen, et al.
Ophthalmic Genetics|September 10, 2026
Novel mutations of PIKFYVE identified in 322 sporadic cataract patientsJinglan Ni, Yubo Cui, Shaoyi Mei, et al.
Ophthalmic Genetics|September 22, 2026
A novel PRPF31 variant associated with autosomal dominant retinitis pigmentosa in Japanese familiesWakako Okayama-Miyazaki, Akiko Yoshida, Xiaoxu Han, et al.
Ophthalmic Genetics|March 24, 2020
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataractVanita Berry, Nikolas Pontikos, Lubica Dudakova, et al.
Ophthalmic Genetics|July 7, 2021
A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophyElena Mermeklieva, Kunka Kamenarova, Kalina Mihova, et al.
Ophthalmic Genetics|July 12, 2021
The association of OPG polymorphisms with diabetic retinopathy in Chinese populationHuijuan Xu, Huan Li, Qian Luo, et al.
Ophthalmic Genetics|October 9, 2020
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case reportTingyi Liang, Xiang Zhang, Yu Xu, et al.
Ophthalmic Genetics|December 20, 2022
Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutationRyan Kenney, Rucha Borkhetaria, Ajay Soni, et al.
Ophthalmic Genetics|June 6, 2022
Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disabilityZhour El Amrani, Siham Chafai Elalaoui, Wafae Jdioui, et al.
Ophthalmic Genetics|June 6, 2022
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VITanya Kowalski, Sarah Donoghue, Gerard de Jong, et al.
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