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A novel CEP78 variant and rod-cone dystrophy in non-consanguineous sibling
Author: Ting, Dominic S.; Holder, Graham E.; Tien, Melissa C.; Chia, Karen J.; Lim, Chia Wei; Ngo, Wei Kiong
Journal: OPHTHALMIC GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1080/13816810.2026.2652568
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Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing los
Author: Zhong, Xue; Duan, Huijin; Liu, Jie; Yu, Linqiong; Lin, Jing; Liu, Shiguo
Journal: OPHTHALMIC GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1080/13816810.2026.2626852
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A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous famil
Author: Wei, Bixia; Qin, Yanli; Wang, Huiqin; Ding, Lin; Shen, Tao
Journal: OPHTHALMIC GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1080/13816810.2026.2626521
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Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentos
Author: Guo, Ruru; Song, Mengxue; Huang, Dandan; Liu, Wei
Journal: OPHTHALMIC GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1080/13816810.2026.2639851
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Somatic mosaicism of a novel USH2A variant in Usher syndrom
Author: Zheng, Cheng-yao; Jiang, Yu-ying; Chen, Hong; Zhang, Lu-ping; Lu, Hong
Journal: OPHTHALMIC GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1080/13816810.2026.2628874
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Genetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystroph
Author: Deng, Wen-Li; Liu, Ke-Yu; Liu, Shu-Lin
Journal: OPHTHALMIC GENETICS. 2025; Vol. , Issue , pp. -. DOI: 10.1080/13816810.2025.2507083
