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Ophthalmic Genetics

IF1
Papers87
Citations
Journal Papers 87
Publication Date
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Gain of function in BEST1: photoreceptor changes and myopia in autosomal dominant vitreoretinochoroidopathy
deleteOphthalmic Genetics
IF1
delete2026-07-04
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deleteNi, Roselind L.; Procopio, Rebecca; Siebert, Ezann; Thompson, Jennifer A.; Lamey, Tina M.; McLaren, Terri L.; Chen, Fred K.; Pulido, Jose S.
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Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population (Mar, 10.1080/13816810.2026.2651178, 2026)
deleteOphthalmic Genetics
IF1
delete2026-05-04
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deletePatil, M.; Vincent, A. L.
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Causal associations between sex hormones and keratoconus: a two-sample Mendelian randomization study
deleteOphthalmic Genetics
IF1
delete2026-05-01
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deleteZhao, Wei; Feng, Jie; Chen, Xueting; Zhang, Hao; Dong, Zehong
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Short stature, hearing loss, retinitis pigmentosa, and distinctive facies: an ophthalmological description of a new case of SHRF syndrome
deleteOphthalmic Genetics
IF1
delete2026-05-01
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deleteFrasson, Maria; Loredo E Silva, Thiago; de Oliveira Moreira, Luis Henrique; de Freitas Cenachi, Sarah Pereira; Lima, Joziele
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Homozygous R383H variant in IDUA gene causing pericentric retinitis pigmentosa in attenuated mucopolysaccharidosis type I
deleteOphthalmic Genetics
IF1
delete2026-05-01
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deleteChattannavar, Goura; Sadhu, Pravalika; Jalali, Subhadra; Kekunnaya, Ramesh
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Novel mutation in a case of TTLL5-associated cone dystrophy with a characteristic 'solar flare' sign
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IF1
delete2026-05-01
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deleteArcher, Blake G.; Ronquillo, Cecinio C.
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Macular neovascularization in patients with Gyrate atrophy
deleteOphthalmic Genetics
IF1
delete2026-05-01
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deleteBierbrier, Joshua; Ahmed, Yusuf; Ventresca, Mario; Arshinoff, Steve A.; Koushan, Keyvan
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Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients
deleteOphthalmic Genetics
IF1
delete2026-04-01
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deleteApam-Garduno, David; Villanueva-Mendoza, Cristina; Prado-Larrea, Carolina; Zenteno, Juan Carlos; Cortes-Gonzalez, Vianney
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Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population
deleteOphthalmic Genetics
IF1
delete2026-04-01
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PREAI
deletePatil, Minal; Vincent, Andrea L.
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Ocular manifestations in DYRK1A mutation: a five-case series from South Korea
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteYang, Seung Ahn; Boo, Jun Ho; Choi, Heeyoung; Kim, Su-Jin; Cheon, Chong Kun; Lee, Seung Min; Lee, Ji-Eun
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Somatic mosaicism of a novel USH2A variant in Usher syndrome
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IF1
delete2026-03-01
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deleteZheng, Cheng-yao; Jiang, Yu-ying; Chen, Hong; Zhang, Lu-ping; Lu, Hong
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Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteHuther, Alexander; Sherman, Caroline L.; Sumaroka, Alexander; O'Neil, Erin C.; Roman, Alejandro J.; Kim, Rebecca; Weber, Mariejel L.; Garafalo, Alexandra V.; Cideciyan, Artur V.; Aleman, Tomas S.
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Alternate day vs daily topical brinzolamide for the treatment of cystic maculopathy in inherited rod cone retinal degenerations
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteBarrett, Chiya Robert; Kiray, Gulunay; Barrett, Orit; Vincent, Andrea L.
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Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variants
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteLin, Victor; Kang, Eugene Yu-Chuan; Liu, Laura; Wu, Wei-Chi; Wang, Nan-Kai
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Two novel genetic associations with sector retinitis pigmentosa: USH2A and PRPF31
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteDhanji, Shanil R.; Stephenson, Kirk A. J.; Gregory-Evans, Cheryl Y.; Gregory-Evans, Kevin
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Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteCao, Lauren Y.; Duemler, Anna; Gao, Hua; Govind, Kishan; Alekseev, Oleg
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Severe early-onset retinal and lenticular abnormalities associated with homozygous c.575T>C (p.Ile192Thr) variants in the VSX2 gene
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteNaveen, Prithvi; Boon, Camiel J. F.; Padhy, Srikanta Kumar
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Phenotype-integrated reinterpretation of laboratory-reported ABCA4 gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteWang, Dorothy T.; Antonio-Aguirre, Bani; Pan, Annabelle; Ruggeri, Maria Ludovica; Mehta, Setu P.; Smith, Christy H.; Guthrie, Kelsey S.; Applegate, Carolyn; Doyle, Jefferson J.; Singh, Mandeep S.
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A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteWei, Bixia; Qin, Yanli; Wang, Huiqin; Ding, Lin; Shen, Tao
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Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa
deleteOphthalmic Genetics
IF1
delete2026-03-01
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deleteGuo, Ruru; Song, Mengxue; Huang, Dandan; Liu, Wei
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