Ophthalmic Genetics, Volume 45, Issue 2 (2024)

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Ophthalmic Genetics, Volume 45, Issue 2 (2024)

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Volume 45, 2024 Vol 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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Reviews

Review Article
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature
Senol Demir, Mehmet Orkun Sevik, Aysenur Ersoy, Bilgen Bilge Geckinli, Ozlem Sahin & Esra Arslan Ates
Pages: 113-119
Published online: 08 Jan 2024
AbstractforPHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature | Full Text | References | PDF (6.1 MB) | EPUB
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Review Article
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature
Fatemeh Abdi, Sadaf Parvin, Vahid Zare Hosseinabadi, Maryam Kachuei, Arzhang Gordiz, Sara Hemmati & Parvaneh Karimzadeh
Pages: 120-125
Published online: 17 Jan 2024
AbstractforOphthalmic manifestations of biotinidase deficiency: report of a case and review of literature | Full Text | References | PDF (1.9 MB) | EPUB
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Research Reports

Article
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population
Ebru Alp, Sibel Doguizi, Fadime Mutlu Icduygu, Egemen Akgun, Mehmet Ali Sekeroglu & Murat Atabey Ozer
Pages: 126-132
Published online: 27 Feb 2024
AbstractforAn analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population | Full Text | References | PDF (425.1 KB) | EPUB | Supplemental
  • 83 Views
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Article
ABCA4 variant screening in a Turkish cohort with Stargardt disease
Neslihan Sinim Kahraman, Büşra Özgüç Çalışkan, Nefise Kandemir, Ayşe Öner, Munis Dündar & Yusuf Özkul
Pages: 133-139
Published online: 18 Feb 2024
AbstractforABCA4 variant screening in a Turkish cohort with Stargardt disease | Full Text | References | PDF (2.5 MB) | EPUB
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Article
A proposal for an updated staging system for LCHADD retinopathy
Nida Wongchaisuwat, Melanie B. Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O. Harding, Jose Alain Sahel, Ken K. Nischal, Hannah L. Scanga, Danielle Black, Jerry Vockley, Georgianne Arnold & Mark E. Pennesi
Pages: 140-146
Published online: 30 Jan 2024
AbstractforA proposal for an updated staging system for LCHADD retinopathy | Full Text | References | PDF (2.5 MB) | EPUB | Supplemental
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Open Access
Article
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa
Jianfu Zhuang, Rongcai Zhang, Biting Zhou, Zongfu Cao, Jie Zhou, Xiaole Chen, Nanwen Zhang, Yihua Zhu & Juhua Yang
Pages: 147-152
Published online: 29 Jan 2024
AbstractforMutation analysis of RHO in patients with non-syndromic retinitis pigmentosa | Full Text | References | PDF (5.9 MB) | EPUB | Supplemental
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Case Reports

Case Report
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia
Shijing Wu, Yinhui Yu, Yao Wang, Li Zhang, Xiaoyun Fang, Panpan Ye & Jian Ma
Pages: 153-158
Published online: 29 Feb 2024
AbstractforNovel ATF6 homozygous variant in a Chinese patient with achromatopsia | Full Text | References | PDF (3.7 MB) | EPUB
  • 91 Views
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Case Report
Female carrier of RPGR mutation presenting with high myopia
Aikaterini K. Seliniotaki, Athina Ververi, Stavrenia Koukoula, Georgios Efstathiou, Spyridon Gerou, Nikolaos Ziakas & Asimina Mataftsi
Pages: 159-163
Published online: 25 Jul 2023
AbstractforFemale carrier of RPGR mutation presenting with high myopia | Full Text | References | PDF (2 MB) | EPUB
  • 133 Views
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Case Report
Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy
Hamad Alomairah, Abdullah Ali, Rabeah Altemaimi & Talal Alabduljalil
Pages: 164-166
Published online: 02 Aug 2023
AbstractforUncommon fundus presentation of Koolen-De Vries Syndrome in a young boy | Full Text | References | PDF (883.3 KB) | EPUB
  • 58 Views
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Case Report
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy
Mariana Matioli da Palma, Molly Marra, Austin D. Igelman, Cristy A. Ku, Amanda Burr, Katherine Andersen, Lesley A. Everett, Fernanda B. O. Porto, Juliana Maria Ferraz Sallum, Paul Yang & Mark E. Pennesi
Pages: 167-174
Published online: 17 Aug 2023
AbstractforExpanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy | Full Text | References | PDF (8.8 MB) | EPUB | Supplemental
  • 205 Views
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Case Report
Choroideremia presenting as vision loss secondary to choroidal neovascularization
Landon J. Rohowetz, Anne L. Kunkler, Jesse D. Sengillo, Thomas A. Lazzarini, Byron L. Lam & Audina M. Berrocal
Pages: 175-179
Published online: 14 Aug 2023
AbstractforChoroideremia presenting as vision loss secondary to choroidal neovascularization | Full Text | References | PDF (6.3 MB) | EPUB
  • 74 Views
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Case Report
Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G
Lucas A. Garza-Garza, Priscila Villarreal-Martinez, Rocio Villafuerte-de la Cruz & Manuel Garza-Leon
Pages: 180-185
Published online: 24 Aug 2023
AbstractforMultimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G | Full Text | References | PDF (8.2 MB) | EPUB | Supplemental
  • 87 Views
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Case Report
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas
Naoko Fukunaga, Takaaki Hayashi, Yuki Yamada, Kei Mizobuchi, Arihito Ohta & Tadashi Nakano
Pages: 186-192
Published online: 21 Aug 2023
AbstractforA novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas | Full Text | References | PDF (7.5 MB) | EPUB
  • 96 Views
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Case Report
Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings
Mark Rabinovich, Olivia Zambrowski, Alexandra Miere, Rakia Bhouri & Eric Souied
Pages: 193-200
Published online: 06 Sep 2023
AbstractforNeuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings | Full Text | References | PDF (8.1 MB) | EPUB
  • 45 Views
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Case Report
Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function
Soma Farag, Imran H. Yusuf, Maria Kaukonen, Laura J. Taylor, Peter Charbel Issa & Robert E. MacLaren
Pages: 201-206
Published online: 20 Sep 2023
AbstractforHypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function | Full Text | References | PDF (3.5 MB) | EPUB | Supplemental
  • 103 Views
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Case Report
Floating-Harbor syndrome with chorioretinal colobomas
Samantha Alanis, M. P. Blair, L. M. Kaufman, G. Bhat & Michael J. Shapiro
Pages: 207-209
Published online: 18 Sep 2023
AbstractforFloating-Harbor syndrome with chorioretinal colobomas | Full Text | References | PDF (1.4 MB) | EPUB
  • 84 Views
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Case Report
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping
William J. Waldock, Laura J. Taylor, Sian Sperring, Federica Staurenghi, Cristina Martinez-Fernandez de la Camara, Jennifer Whitfield, Penny Clouston, Imran H. Yusuf & Robert E. MacLaren
Pages: 210-217
Published online: 26 Jan 2024
AbstractforA hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping | Full Text | References | PDF (5 MB) | EPUB | Supplemental
  • 394 Views
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Open Access

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