Ophthalmic Genetics, Volume 42, Issue 1 (2021)

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Ophthalmic Genetics, Volume 42, Issue 1 (2021)

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Research Reports

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy
Danial Roshandel, Jennifer A. Thompson, Jason Charng, Dan Zhang, Enid Chelva, Sukanya Arunachalam, Mary S. Attia, Tina M. Lamey, Terri L. McLaren, John N. De Roach, David A. Mackey, Steve D. Wilton, Sue Fletcher, Samuel McLenachan & Fred K. Chen
Pages: 1-14
Published online: 27 Sep 2020
AbstractforExploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy | Full Text | References | PDF (7.1 MB) | EPUB | Supplemental
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Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1
Bojana Radojevic, Kaylie Jones, Martin Klein, Margarita Mauro-Herrera, Ronald Kingsley, David G. Birch & Lea D. Bennett
Pages: 15-22
Published online: 14 Oct 2020
AbstractforVariable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1 | Full Text | References | PDF (6.3 MB) | EPUB
  • 1555 Views
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Open Access
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Simon Dulz, Yevgeniya Atiskova, Peter Engel, Jan Wildner, Konstantinos Tsiakas & Rene Santer
Pages: 23-27
Published online: 27 Oct 2020
AbstractforRetained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) | Full Text | References | PDF (4.5 MB) | EPUB
  • 188 Views
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A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome
Sirisha Senthil, Sarmeela Sharma, Sushma Vishwakarma & Inderjeet Kaur
Pages: 28-34
Published online: 29 Nov 2020
AbstractforA novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome | Full Text | References | PDF (3.7 MB) | EPUB | Supplemental
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Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis
Vaida Punyte, Alvita Vilkeviciute, Greta Gedvilaite, Loresa Kriauciuniene & Rasa Liutkeviciene
Pages: 35-44
Published online: 30 Oct 2020
AbstractforAssociation of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis | Full Text | References | PDF (674.3 KB) | EPUB | Supplemental
  • 115 Views
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OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion
Chuanbin Sun, Xiaoyu Wu, Hai-Xia Bai, Chenghui Wang, Zhe Liu, Chenxi Yang, Yijun Lu & Pingping Jiang
Pages: 45-52
Published online: 29 Nov 2020
AbstractforOPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion | Full Text | References | PDF (4.6 MB) | EPUB | Supplemental
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Open Access
“Association of APOE gene polymorphisms with primary open angle glaucoma in Brazilian patients”
Marcelo Luís Occhiutto, Mônica Barbosa de Melo, José Paulo Cabral de Vasconcellos, Thiago Adalton Rosa Rodrigues, Flávia Fialho Bajano, Fernando Ferreira Costa & Vital Paulino Costa
Pages: 53-61
Published online: 07 Dec 2020
Abstractfor“Association of APOE gene polymorphisms with primary open angle glaucoma in Brazilian patients” | Full Text | References | PDF (392 KB) | EPUB
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Mutation Report

Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family
Juanita Pappalardo, Rachael C. Heath Jeffery, Jennifer A. Thompson, Jason Charng, Enid S. Chelva, Ian J. Constable, Terri L. McLaren, Tina M. Lamey, John N. De Roach & Fred K. Chen
Pages: 62-70
Published online: 13 Oct 2020
AbstractforProgressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family | Full Text | References | PDF (5.1 MB) | EPUB | Supplemental
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Case Reports

Case Report
Ocular manifestations in classic homocystinuria
Patrícia Ioschpe Gus, Karina Carvalho Donis, Diane Marinho, Tiago Franco Martins, Carolina Fischinger Moura de Souza, Rafael Barboza Carloto, Gabriel Leivas & Ida Vanessa Doederlein Schwartz
Pages: 71-74
Published online: 17 Sep 2020
AbstractforOcular manifestations in classic homocystinuria | Full Text | References | PDF (1.1 MB) | EPUB
  • 270 Views
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Case Report
Severe retinal degeneration in a patient with Canavan disease
Matthew D. Benson, David J.A. Plemel, Paul R. Freund, James R. Lewis, Jörn Oliver Sass, Luzy Bähr, Corinne Gemperle-Britschgi, Patrick Ferreira & Ian M. MacDonald
Pages: 75-78
Published online: 25 Sep 2020
AbstractforSevere retinal degeneration in a patient with Canavan disease | Full Text | References | PDF (683.7 KB) | EPUB
  • 181 Views
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Case Report
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report
Tingyi Liang, Xiang Zhang, Yu Xu & Peiquan Zhao
Pages: 79-83
Published online: 09 Oct 2020
AbstractforOphthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report | Full Text | References | PDF (3.4 MB) | EPUB
  • 247 Views
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Case Report
Mosaic cat eye syndrome in a child with unilateral iris coloboma
Cristina Hernández-Medrano, Alberto Hidalgo-Bravo, Cristina Villanueva-Mendoza, Teresa Bautista-Tirado & David Apam-Garduño
Pages: 84-87
Published online: 01 Dec 2020
AbstractforMosaic cat eye syndrome in a child with unilateral iris coloboma | Full Text | References | PDF (3 MB) | EPUB
  • 176 Views
  • 4 CrossRef citations
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Letters to the Journal

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family
Asha Deepthi, Omar Fakhoury, Mohamad Daher, Alicia Gambarini, Stephany El-Hayek & André Megarbane
Pages: 88-91
Published online: 28 Oct 2020
First Page PreviewforSIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family | Full Text | References | PDF (1.2 MB) | EPUB
  • 113 Views
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Co-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease
David C. Gibson, Natario L. Couser & Kayla B. King
Pages: 92-95
Published online: 28 Oct 2020
First Page PreviewforCo-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease | Full Text | References | PDF (255.3 KB) | EPUB
  • 93 Views
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Letters to the Editor

Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration
Adel Salah Alahmadi, Abdulrahman H. Badawi, Moustafa S. Magliyah, Amani Albakri & Patrik Schatz
Pages: 96-98
Published online: 29 Nov 2020
First Page PreviewforPoretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration | Full Text | References | PDF (2 MB) | EPUB
  • 203 Views
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Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome
Josef Finsterer
Page: 99
Published online: 25 Sep 2020
CitationforExclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome | Full Text | References | PDF (156.4 KB) | EPUB
  • 50 Views
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Response

Reply
Response to Finsterer’s “Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome”
Julia Chertkof, Robert B. Hufnagel, Delphine Blain, Andrea L. Gropman & Brian P. Brooks
Page: 100
Published online: 24 Nov 2020
CitationforResponse to Finsterer’s “Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome” | Full Text | References | PDF (156.6 KB) | EPUB
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