Ophthalmic Genetics, Volume 43, Issue 1 (2022)

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Ophthalmic Genetics, Volume 43, Issue 1 (2022)

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Reviews

Review
Stargardt disease and progress in therapeutic strategies
Di Huang, Rachael C. Heath Jeffery, May Thandar Aung-Htut, Samuel McLenachan, Sue Fletcher, Steve D. Wilton & Fred K. Chen
Pages: 1-26
Published online: 29 Aug 2021
AbstractforStargardt disease and progress in therapeutic strategies | Full Text | References | PDF (3.2 MB) | EPUB | Supplemental
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Open Access
Review
Nevoid basal cell carcinoma syndrome: a case report and literature review
Shripadh Chitta, Jineet Patel, Shravan Renapurkar, Christopher Loschiavo, Jennifer Rhodes, Kayla King, Kimberly Salkey & Natario Couser
Pages: 27-35
Published online: 05 Oct 2021
AbstractforNevoid basal cell carcinoma syndrome: a case report and literature review | Full Text | References | PDF (2.2 MB) | EPUB
  • 306 Views
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Research Reports

Report
Using crowdsourcing to understand patients attitudes toward a clinical trial for retinitis pigmentosa requiring 4 years of participation
Xiangrong Kong, Cory Dorfman, Susie Trotochaud, Fahd Naufal, Carl A. Latkin & Peter A. Campochiaro
Pages: 36-41
Published online: 11 Aug 2021
AbstractforUsing crowdsourcing to understand patients attitudes toward a clinical trial for retinitis pigmentosa requiring 4 years of participation | Full Text | References | PDF (763 KB) | EPUB | Supplemental
  • 128 Views
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Report
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry
Piotr Milanowski, Ewa Kosior-Jarecka, Urszula Łukasik, Dominika Wróbel-Dudzińska, Joanna Milanowska, Chiea Chuen Khor, Tin Aung, Janusz Kocki & Tomasz Żarnowski
Pages: 42-47
Published online: 23 Aug 2021
AbstractforAssociations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry | Full Text | References | PDF (335 KB) | EPUB
  • 276 Views
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Report
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development
Suma P. Shankar, Reshmitha Fallurin, Tonya Watson, Prabhu R. Shankar, Terri L. Young, Deborah Orel-Bixler & Katherine A. Rauen
Pages: 48-57
Published online: 06 Oct 2021
AbstractforOphthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development | Full Text | References | PDF (971.4 KB) | EPUB
  • 207 Views
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Report
Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates
Arif O. Khan, Francesco Pichi, Piergiorgio Neri & Emad B. Abboud
Pages: 58-63
Published online: 14 Sep 2021
AbstractforRetinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates | Full Text | References | PDF (3.7 MB) | EPUB
  • 99 Views
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Report
Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome
Radhika Manukonda, Akhilesh Pujar, George Ramappa, Geeta K Vemuganti & Swathi Kaliki
Pages: 64-72
Published online: 13 Oct 2021
AbstractforIdentification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome | Full Text | References | PDF (335.5 KB) | EPUB
  • 200 Views
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Report
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus
Alessandro Garcia Lopes, Gildásio Castello de Almeida Jr, Marcos Paulo Miola, Ronan Marques Teixeira, Francielly Camilla Bazilio Laurindo Pires, Rodolfo Andrade Miani, Luiz Carlos de Mattos, Cinara Cássia Brandão & Lilian Castiglioni
Pages: 73-79
Published online: 22 Nov 2021
AbstractforAbsence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus | Full Text | References | PDF (474.7 KB) | EPUB
  • 148 Views
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Report
Association of VEGFA promoter polymorphisms rs699947 and rs35569394 with diabetic retinopathy among North-Central Indian subjects: a case-control study
Amrathlal Rabbind Singh, Rahul Gupta, Manish Shukla, Anupreeti Jain & Dhananjay Shukla
Pages: 80-87
Published online: 25 Oct 2021
AbstractforAssociation of VEGFA promoter polymorphisms rs699947 and rs35569394 with diabetic retinopathy among North-Central Indian subjects: a case-control study | Full Text | References | PDF (2.4 MB) | EPUB | Supplemental
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Mutation Report

Report
Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus
Tao Shen, Xuan Qiu, Xiaoming Lin, Jing Lin, Xiuling Li, Qiwen Chen, Liuqing Pan, Zhonghao Wang, Huangxuan Shen, Qingjiong Zhang & Jianhua Yan
Pages: 88-96
Published online: 03 Aug 2021
AbstractforMissense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus | Full Text | References | PDF (15.4 MB) | EPUB
  • 190 Views
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Report
A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing
Bin-Bin Chen, Yi Zhai, Ya-Nan Huo, Shuo Yang & Zhi-Yong Zhang
Pages: 97-103
Published online: 23 Nov 2021
AbstractforA novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing | Full Text | References | PDF (4.5 MB) | EPUB | Supplemental
  • 147 Views
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Case Reports

Case Report
Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree
Zhen Song, Mo Li, Chang Wang, Yu Wang, Lihua Zhang, Na Li, Ruifang Yang & Ping Sun
Pages: 104-109
Published online: 27 Aug 2021
AbstractforNovel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree | Full Text | References | PDF (4.1 MB) | EPUB | Supplemental
  • 130 Views
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Case Report
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome
Malena Daich Varela, Fabiana Louise Motta, Andrew R. Webster & Gavin Arno
Pages: 110-115
Published online: 23 Aug 2021
AbstractforA rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome | Full Text | References | PDF (4.5 MB) | EPUB
  • 282 Views
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Case Report
Wolfram syndrome with vitelliform retinal deposits
Sina J. Sabet & Andrew R. Carey
Pages: 116-119
Published online: 23 Aug 2021
AbstractforWolfram syndrome with vitelliform retinal deposits | Full Text | References | PDF (3.4 MB) | EPUB
  • 114 Views
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Case Report
Novel retinal finding in a patient with 4q12 deletion
Mario Fruschelli, Nicola Lorusso, Theodora Hadjistilianou, Maria Antonietta Mencarelli, Mirella Bruttini, Alessandra Renieri, Marco Mandalà & Alessandro Di Maggio
Pages: 120-122
Published online: 22 Sep 2021
AbstractforNovel retinal finding in a patient with 4q12 deletion | Full Text | References | PDF (2.4 MB) | EPUB
  • 103 Views
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Case Report
Genetics and optical coherence tomography features in a child with an achromatic retinal patch
Noy Ashkenazy, Nicolas A. Yannuzzi & Audina M. Berrocal
Pages: 123-125
Published online: 10 Dec 2021
AbstractforGenetics and optical coherence tomography features in a child with an achromatic retinal patch | Full Text | References | PDF (2.8 MB) | EPUB
  • 139 Views
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Case Report
Eye and ocular adnexa manifestations of MED12-related disorders
Arth Shah, Monika Bapna, Hind Al-Saif, Rachel Li & Natario L. Couser
Pages: 126-129
Published online: 20 Oct 2021
AbstractforEye and ocular adnexa manifestations of MED12-related disorders | Full Text | References | PDF (296.3 KB) | EPUB
  • 168 Views
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Case Report
A case of blepharophimosis: Freeman Sheldon syndrome
Scott Bowman, Gwen Noble, Bahram Rahmani, Marilyn Mets, Hantamalala Ralay Ranaivo & Valerie Castelluccio
Pages: 130-133
Published online: 19 Oct 2021
AbstractforA case of blepharophimosis: Freeman Sheldon syndrome | Full Text | References | PDF (3.7 MB) | EPUB
  • 135 Views
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Research Article

Article
Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation
Yi Zhai, Matthew D. Benson & Ian M. MacDonald
Pages: 134-136
Published online: 01 Oct 2021
First Page PreviewforCorneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation | Full Text | References | PDF (2.4 MB) | EPUB
  • 177 Views
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Article
Portuguese translation and linguistic validation of the Michigan Retinal Degeneration Questionnaire and the Michigan Vision-Related Anxiety Questionnaire in a cohort with inherited retinal degenerations
João Pedro Marques, Luís Bernardes, Carolina Oliveira, Gabriela Fonseca, João Quadrado Gil, Luciana Sotero, Ana Paula Relvas, Joaquim Murta, Rufino Silva, Gabrielle Davis Lacy, Maria Fernanda Abalem & K. Thiran Jayasundera
Pages: 137-139
Published online: 12 Jan 2022
First Page PreviewforPortuguese translation and linguistic validation of the Michigan Retinal Degeneration Questionnaire and the Michigan Vision-Related Anxiety Questionnaire in a cohort with inherited retinal degenerations | Full Text | References | PDF (246.4 KB) | EPUB
  • 167 Views
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Letters to the Journal

Letter
Heterozygote MTHFR A1298C mutation in a case of autosomal recessive bestrophinopathy with branch retinal vein occlusion
Sara Hemmati, Golnaz Khakpour, Fatemeh Nadjafi-Semnani, Arzhang Gordiz, Masoome Sajadi & Fatemeh Abdi
Pages: 140-142
Published online: 01 Mar 2022
First Page PreviewforHeterozygote MTHFR A1298C mutation in a case of autosomal recessive bestrophinopathy with branch retinal vein occlusion | Full Text | References | PDF (2.7 MB) | EPUB
  • 92 Views
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