Ophthalmic Genetics, Volume 41, Issue 1 (2020)

Browse this journal
Sample our Bioscience journals, sign in here to start your access, Latest two full volumes FREE to you for 14 days

Ophthalmic Genetics, Volume 41, Issue 1 (2020)

See all volumes and issues
Vol 45, 2024 Vol 44, 2023 Vol 43, 2022 Vol 42, 2021 Volume 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
Download citations Download PDFs Download issue

Review

Patient-reported outcome measures in inherited retinal degeneration gene therapy trials
Gabrielle D. Lacy, Maria Fernanda Abalem, David C. Musch & Kanishka T. Jayasundera
Pages: 1-6
Published online: 26 Feb 2020
AbstractforPatient-reported outcome measures in inherited retinal degeneration gene therapy trials | Full Text | References | PDF (909.4 KB) | EPUB
  • 465 Views
  • 11 CrossRef citations
  • 0Altmetric

Research Reports

A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds
Rizwan Khan, Rana Muhammad Kamran Shabbir, Irum Raza, Umair Abdullah, Muhammad Asif Naeem, Ashfaque Ahmed, Sajid Malik, Zhengmao Hu & Kun Xia
Pages: 7-12
Published online: 14 Jan 2020
AbstractforA founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds | Full Text | References | PDF (1.2 MB) | EPUB | Supplemental
  • 159 Views
  • 0 CrossRef citations
  • 0Altmetric
Corneal endothelial cell abnormalities in X-linked Alport syndrome
Eleanor Nicklason, Heather Mack, Jacqueline Beltz, Julie Jacob, Mina Farahani, Deb Colville & Judy Savige
Pages: 13-19
Published online: 11 Mar 2020
AbstractforCorneal endothelial cell abnormalities in X-linked Alport syndrome | Full Text | References | PDF (1.1 MB) | EPUB
  • 177 Views
  • 8 CrossRef citations
  • 0Altmetric
The role of external beam radiation therapy for retinoblastoma after failure of combined chemoreduction and focal consolidation therapy
Yacoub A. Yousef, Mona Mohammad, Imad Jaradat, Raed Shatnawi, Sara Banat, Mustafa Mehyar & Ibrahim Al-Nawaiseh
Pages: 20-25
Published online: 19 Feb 2020
AbstractforThe role of external beam radiation therapy for retinoblastoma after failure of combined chemoreduction and focal consolidation therapy | Full Text | References | PDF (719.9 KB) | EPUB
  • 93 Views
  • 5 CrossRef citations
  • 0Altmetric
Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa
Yuchen Lin, Christine L. Xu, Mark P. Breazzano, Akemi J. Tanaka, Joseph Ryu, Sarah R. Levi, Ke Yao, Janet R. Sparrow & Stephen H. Tsang
Pages: 26-30
Published online: 13 Feb 2020
AbstractforProgressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa | Full Text | References | PDF (1.2 MB) | EPUB | Supplemental
  • 277 Views
  • 1 CrossRef citations
  • 0Altmetric
Toll-like receptor 4 gene polymorphisms rs4986790 and rs4986791 and age-related macular degeneration susceptibility: a meta-analysis
Xiao-Cui Liu, Xiao-Hui Guo, Xiang Chen & Yi Yao
Pages: 31-35
Published online: 27 Feb 2020
AbstractforToll-like receptor 4 gene polymorphisms rs4986790 and rs4986791 and age-related macular degeneration susceptibility: a meta-analysis | Full Text | References | PDF (693.6 KB) | EPUB
  • 114 Views
  • 5 CrossRef citations
  • 0Altmetric
Genetic testing for inherited ocular conditions in a developing country
Mario Zanolli, Joaquín I. Oporto, Juan I. Verdaguer, Juan Pablo López, Sergio Zacharías, Pablo Romero, Diego Ossandón, Oliver Denk, Olga Acuña, José Manuel López, Ricardo Stevenson, Bernardita Álamos & Hernán Iturriaga
Pages: 36-40
Published online: 06 Mar 2020
AbstractforGenetic testing for inherited ocular conditions in a developing country | Full Text | References | PDF (737.7 KB) | EPUB | Supplemental
  • 440 Views
  • 6 CrossRef citations
  • 0Altmetric
Association of VIPR2 and ZMAT4 with high myopia
Kai Xiong Cheong, Rita Yu Yin Yong, Mellisa Mei Hui Tan, Frederick Lian Kheng Tey & Bryan Chin Hou Ang
Pages: 41-48
Published online: 13 Mar 2020
AbstractforAssociation of VIPR2 and ZMAT4 with high myopia | Full Text | References | PDF (863.5 KB) | EPUB
  • 274 Views
  • 7 CrossRef citations
  • 0Altmetric

Mutation Report

Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos
Giacomo Maria Bacci, Sara Bargiacchi, Pina Fortunato, Elisa Pisaneschi, Francesca Peluso, Elisa Marziali, Adriano Magli, Sabrina Rita Giglio & Roberto Caputo
Pages: 49-56
Published online: 02 Mar 2020
AbstractforNovel mutations in MFRP and PRSS56 are associated with posterior microphthalmos | Full Text | References | PDF (1.3 MB) | EPUB
  • 220 Views
  • 9 CrossRef citations
  • 0Altmetric

Case Reports

Case Report
X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation
Logan M. Smith, Linda A. Cernichiaro-Espinosa, Craig A. McKeown, Mustafa Tekin, Byron L. Lam, John Chiang, Jonathan F. Russell & Audina M. Berrocal
Pages: 57-62
Published online: 03 Mar 2020
AbstractforX-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation | Full Text | References | PDF (1 MB) | EPUB
  • 251 Views
  • 5 CrossRef citations
  • 0Altmetric
Case Report
Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature
Razek Georges Coussa, Yue Zhao, Meghan J. DeBenedictis, Allison Babiuch, Jonathan Sears & Elias I. Traboulsi
Pages: 63-68
Published online: 10 Feb 2020
AbstractforNovel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature | Full Text | References | PDF (953.7 KB) | EPUB
  • 611 Views
  • 14 CrossRef citations
  • 0Altmetric
Case Report
Full-width postlaminar optic nerve tumor invasion of retinoblastoma as risk-factor for leptomeningeal spread of retinoblastoma. A case report and review of the literature
Marcus C. de Jong, Paul van der Valk, Robin W. Jansen, Floor Abbink, Machteld Bosscha, Jonas A. Castelijns, Annette C. Moll & Pim de Graaf
Pages: 69-72
Published online: 19 Feb 2020
AbstractforFull-width postlaminar optic nerve tumor invasion of retinoblastoma as risk-factor for leptomeningeal spread of retinoblastoma. A case report and review of the literature | Full Text | References | PDF (1.4 MB) | EPUB
  • 1089 Views
  • 4 CrossRef citations
  • 0Altmetric
Open Access
Case Report
Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms
Veronika Vaclavik, Francine Naderi, André Schaller & Pascal Escher
Pages: 73-78
Published online: 03 Mar 2020
AbstractforLongitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms | Full Text | References | PDF (1.4 MB) | EPUB
  • 172 Views
  • 2 CrossRef citations
  • 0Altmetric
Case Report
Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis
Funda Dikkaya, Serhat Seyhan, Sevil Karaman Erdur, Fevzi Şentürk & Cengiz Aras
Pages: 79-82
Published online: 21 Feb 2020
AbstractforOptical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis | Full Text | References | PDF (1,004.2 KB) | EPUB
  • 123 Views
  • 2 CrossRef citations
  • 0Altmetric
Case Report
Three cases of molecularly confirmed Knobloch syndrome
Irina Balikova, Nuri Serdal Sanak, Depasse Fanny, Guillaume Smits, Julie Soblet, Elfride de Baere & Monique Cordonnier
Pages: 83-87
Published online: 17 Mar 2020
AbstractforThree cases of molecularly confirmed Knobloch syndrome | Full Text | References | PDF (712.1 KB) | EPUB
  • 1953 Views
  • 8 CrossRef citations
  • 0Altmetric
Open Access

Letters to the Journal

A de novo nonsense mutation in the N-terminal of ligand-binding domain of NR2F1 gene provoked a milder phenotype of BBSOAS
Wenjun Zou, Libo Cheng, Shui Lu & Zhifeng Wu
Pages: 88-89
Published online: 03 Feb 2020
CitationforA de novo nonsense mutation in the N-terminal of ligand-binding domain of NR2F1 gene provoked a milder phenotype of BBSOAS | Full Text | References | PDF (537.1 KB) | EPUB
  • 105 Views
  • 5 CrossRef citations
  • 0Altmetric
Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene
Fahimeh Beigi, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Mohammad Yahya Vahidi Mehrjardi, Masoud Reza Manaviat, Amir Sherafat, Carmen Ayuso & Nasrin Ghasemi
Pages: 90-92
Published online: 10 Feb 2020
First Page PreviewforPosterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene | Full Text | References | PDF (606.5 KB) | EPUB | Supplemental
  • 152 Views
  • 3 CrossRef citations
  • 0Altmetric
Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy
Takaaki Hayashi, Satoshi Katagiri, Kei Mizobuchi, Kazutoshi Yoshitake, Shuhei Kameya, Tomokazu Matsuura, Takeshi Iwata & Tadashi Nakano
Pages: 93-95
Published online: 10 Feb 2020
First Page PreviewforHeterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy | Full Text | References | PDF (540.5 KB) | EPUB
  • 335 Views
  • 17 CrossRef citations
  • 0Altmetric

Letters to the Editor

Cycloplegic refractions in a cohort with ABCA4-related retinopathy
Eman M. Al-Sharif & Arif O. Khan
Pages: 96-98
Published online: 04 Feb 2020
First Page PreviewforCycloplegic refractions in a cohort with ABCA4-related retinopathy | Full Text | References | PDF (358.1 KB) | EPUB
  • 103 Views
  • 2 CrossRef citations
  • 0Altmetric
Horizontal gaze palsy and progressive scoliosis—a tale of two siblings with ROBO3 mutation
Poornima Narayanan Nambiar, Santha Kumar S, Ramshekhar Menon, Sruthi S Nair, GK Madhavilatha & Soumya Sundaram
Pages: 99-100
Published online: 20 Feb 2020
CitationforHorizontal gaze palsy and progressive scoliosis—a tale of two siblings with ROBO3 mutation | Full Text | References | PDF (479.8 KB) | EPUB | Supplemental
  • 94 Views
  • 0 CrossRef citations
  • 0Altmetric

Correction

Correction
Correction
Page: 1
Published online: 30 Jan 2020
CitationforCorrection | Full Text | PDF (180.2 KB) | EPUB
  • 490 Views
  • 0 CrossRef citations
  • 0Altmetric
Free Access

Explore articles

Explore the most recently published articles

Usher syndrome in the United Arab Emirates
Arif O. Khan
Article | Published online: 17 Jul 2024
Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma
Shreya Sirivolu et al.
Case Report | Published online: 17 Jul 2024
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia
Jinli Li et al.
Case Report | Published online: 17 Jul 2024
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1
Adam Mainguy et al.
Report | Published online: 3 Jul 2024
View all latest articles