Ophthalmic Genetics, Volume 44, Issue 3 (2023)

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Ophthalmic Genetics, Volume 44, Issue 3 (2023)

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Vol 45, 2024 Volume 44, 2023 Vol 43, 2022 Vol 42, 2021 Vol 41, 2020 Vol 40, 2019 Vol 39, 2018 Vol 38, 2017 Vol 37, 2016 Vol 36, 2015 Vol 35, 2014 Vol 34, 2013 Vol 33, 2012 Vol 32, 2011 Vol 31, 2010 Vol 30, 2009 Vol 29, 2008 Vol 28, 2007 Vol 27, 2006 Vol 26, 2005 Vol 25, 2004 Vol 24, 2003 Vol 23, 2002 Vol 22, 2001 Vol 21, 2000 Vol 20, 1999 Vol 19, 1998 Vol 18, 1997 Vol 17, 1996 Vol 16, 1995 Vol 15, 1994 Vol 14, 1993 Vol 13, 1992 Vol 12, 1991 Vol 11, 1990 Vol 10, 1989 Vol 9, 1988 Vol 8, 1987 Vol 7, 1986 Vol 6, 1985 Vol 5, 1985 Vol 4, 1984 Vol 3, 1983 Vol 2, 1983 Vol 1, 1981-1982
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Research Report

Report
Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis
Masood Naseripour, Fatemeh Azimi, Said Talebi, Reza Mirshahi, Reza Kiaee, Ahad Sedaghat, Ataei Kachoei Zohre & Golnaz Khakpour
Pages: 211-217
Published online: 30 Jan 2023
AbstractforInvestigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis | Full Text | References | PDF (1.1 MB) | EPUB
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Report
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients
Kavin Selvan, Rebhi Abuzaitoun, Maria Fernanda Abalem, Ajoy Vincent, Chris A. Andrews, Gabrielle D. Lacy, Rafid Farjo, Karissa Kao, Krystal Kao, Gislin Dagnelie, David C. Musch, K. Thiran Jayasundera & Elise Héon
Pages: 218-225
Published online: 22 Feb 2023
AbstractforThe validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients | Full Text | References | PDF (690.5 KB) | EPUB | Supplemental
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Open Access
Report
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum
Caroline Atef Tawfik, Raghda Zaitoun & Aliaa Ahmed Farag
Pages: 226-233
Published online: 01 Mar 2023
AbstractforHarel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum | Full Text | References | PDF (3.9 MB) | EPUB | Supplemental
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Report
Whole-exome screening for primary congenital glaucoma in Lebanon
Nadine J. Makhoul, Zahi Wehbi, Dalia El Hadi, Baha Noureddine, Rose-Mary Boustany & Christiane Al-Haddad
Pages: 234-245
Published online: 30 Mar 2023
AbstractforWhole-exome screening for primary congenital glaucoma in Lebanon | Full Text | References | PDF (4.3 MB) | EPUB | Supplemental
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Report
Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort
Thiago Adalton Rosa Rodrigues, Bruno Batista de Souza, Victor de Haidar e Bertozzo, Júlia Nicoliello Pereira de Castro, Ana Carolina Lima Camargo, Fernando Ferreira Costa, Rui Barroso Schimiti, Vital Paulino Costa, José Paulo Cabral de Vasconcellos & Mônica Barbosa de Melo
Pages: 246-252
Published online: 30 Mar 2023
AbstractforAssociation of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort | Full Text | References | PDF (363.9 KB) | EPUB
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Open Access
Report
Oncologist-led germline genetic testing for uveal melanoma
Brittany Gillies, Hatem Krema, Anning Chao, Leonardo Lando, Kirsten M. Farncombe, Marcus Butler, Filiberto Altomare & Raymond H. Kim
Pages: 253-261
Published online: 27 Mar 2023
AbstractforOncologist-led germline genetic testing for uveal melanoma | Full Text | References | PDF (488.6 KB) | EPUB | Supplemental
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Mutation Report

Report
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China
Zhenhui Liu, Ju Guo, Meng Pan, Kunpeng Xie, Liping Du, Xuemin Jin & Bo Lei
Pages: 262-270
Published online: 01 Mar 2023
AbstractforThe genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China | Full Text | References | PDF (6.1 MB) | EPUB
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Case Report

Case Report
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI
Marissa M. Patel, Thomas A. Lazzarini, Joshua H. Uhr, Catherin I. Negron & Audina M. Berrocal
Pages: 271-272
Published online: 28 Nov 2022
CitationforAcute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI | Full Text | References | PDF (1.3 MB) | EPUB
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Case Report
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1
Aslıhan Yılmaz Çebi & Mustafa Hepokur
Pages: 273-275
Published online: 25 Jul 2022
AbstractforOCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1 | Full Text | References | PDF (1.5 MB) | EPUB
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Case Report
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report
Mirjana Bjeloš, Mladen Bušić, Ana Ćurić, Damir Bosnar, Borna Šarić, Leon Marković, Biljana Kuzmanović Elabjer & Benedict Rak
Pages: 276-280
Published online: 29 Jul 2022
AbstractforPathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report | Full Text | References | PDF (2.6 MB) | EPUB
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Case Report
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome
Viney Gupta, Bindu I Somarajan, Shikha Gupta, Karthikeyan Mahalingam, Manoj Kumar & Abhishek Singh
Pages: 281-285
Published online: 10 Aug 2022
AbstractforAssociation of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome | Full Text | References | PDF (3.5 MB) | EPUB
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Case Report
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing
Jae Won Jun, Yuri Seo, Sueng-Han Han & Jinu Han
Pages: 286-290
Published online: 10 Aug 2022
AbstractforThe importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing | Full Text | References | PDF (3.7 MB) | EPUB
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Case Report
Retinal detachment in a child with Frank-ter Haar syndrome
Onur Furundaoturan, Mine Esen Baris, Durdugul Ayyıldız Emecen & Elif Demirkilinc Biler
Pages: 291-294
Published online: 25 Aug 2022
AbstractforRetinal detachment in a child with Frank-ter Haar syndrome | Full Text | References | PDF (2.8 MB) | EPUB
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Case Report
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature
Matthew Tran, Masha Kolesnikova, Angela H. Kim, Tia Kowal, Ke Ning, Vinit B. Mahajan, Stephen H. Tsang & Yang Sun
Pages: 295-303
Published online: 26 Aug 2022
AbstractforClinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature | Full Text | References | PDF (5.8 MB) | EPUB
  • 258 Views
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Case Report
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
Rym Maamouri, Syrine Hizem, Ines Kammoun, Yasmina Elaribi, Imen Rejeb, Molka Sebai, Houweyda Jilani, Cécile Rouzier, Monia Cheour, Véronique Paquis-Flucklinger & Lamia Ben Jemaa
Pages: 304-312
Published online: 12 Sep 2022
AbstractforA novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1 | Full Text | References | PDF (2.7 MB) | EPUB | Supplemental
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Case Report
Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP)
Ashley López-Cañizares, Thomas A. Lazzarini, Carlos Mendoza & Audina M. Berrocal
Pages: 313-317
Published online: 29 Nov 2022
AbstractforFamilial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP) | Full Text | References | PDF (3.4 MB) | EPUB
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Letter to the Editor

Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene
Coralie Hemptinne, François Willermain, Casper de Jong, Lavinia Postolache & Laurence Postelmans
Pages: 318-320
Published online: 04 Sep 2022
First Page PreviewforAutosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene | Full Text | References | PDF (3.4 MB) | EPUB
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