Ophthalmic Genetics, Volume 43, Issue 2 (2022)

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Ophthalmic Genetics, Volume 43, Issue 2 (2022)

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Reviews

Photoaversion in inherited retinal diseases: clinical phenotypes, biological basis, and qualitative and quantitative assessment
Serena Zaman, Thomas Kane, Mohamed Katta, Michalis Georgiou & Michel Michaelides
Pages: 143-151
Published online: 26 Dec 2021
AbstractforPhotoaversion in inherited retinal diseases: clinical phenotypes, biological basis, and qualitative and quantitative assessment | Full Text | References | PDF (611.5 KB) | EPUB
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Open Access

Review

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes
Laura Lähteenoja, Sanna Häkli, Sari Tuupanen, Outi Kuismin, Tapani Palosaari, Elisa Rahikkala & Aura Falck
Pages: 152-158
Published online: 03 Mar 2022
AbstractforA novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes | Full Text | References | PDF (2.1 MB) | EPUB
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Open Access

Research Reports

A novel variant in TGFBI causes keratoconus in a two-generation Chinese family
Qinghong Lin, Lin Zheng & Zhengwei Shen
Pages: 159-163
Published online: 13 Dec 2021
AbstractforA novel variant in TGFBI causes keratoconus in a two-generation Chinese family | Full Text | References | PDF (5.8 MB) | EPUB
  • 157 Views
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RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration
Ginte Daniute, Alvita Vilkeviciute, Greta Gedvilaite, Loresa Kriauciuniene & Rasa Liutkeviciene
Pages: 164-171
Published online: 05 Dec 2021
AbstractforRP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration | Full Text | References | PDF (722.9 KB) | EPUB
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Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life
Cecilia Fahnehjelm, Eva Dafgård Kopp, Josephine Wincent, Evin Güven, Mattias Nilsson, Monica Olsson & Kristina Teär Fahnehjelm
Pages: 172-183
Published online: 02 Feb 2022
AbstractforAnophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life | Full Text | References | PDF (2.5 MB) | EPUB
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Open Access
Association of genetic variants in PDGFRA with high myopia in the Han population of southwestern China
Lingxi Jiang, Guo Huang, Chao Dai, Rui Zheng, Chunbao Xie, Suyang Duan, Ling Zhong, Xiaoqi Liu, Bo Gong, Dezhong Yao, Zhenglin Yang & Yi Shi
Pages: 184-190
Published online: 05 Dec 2021
AbstractforAssociation of genetic variants in PDGFRA with high myopia in the Han population of southwestern China | Full Text | References | PDF (2.7 MB) | EPUB
  • 160 Views
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Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype
Susmita Chowdhury, Roopam Duvesh, Manojkumar Kumaran, Rupa Anjanamurthy, Jayant Kumar, Ayyasamy Vanniarajan, Bharanidharan Devarajan & Periasamy Sundaresan
Pages: 191-200
Published online: 09 Nov 2021
AbstractforClinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype | Full Text | References | PDF (9.2 MB) | EPUB | Supplemental
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Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis
Chetan Khantibai Patel, Suzanne Broadgate, Ahmed Shalaby, Jing Yu, Andrea H. Nemeth, Susan M Downes & Stephanie Halford
Pages: 201-209
Published online: 09 Nov 2021
AbstractforWhole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis | Full Text | References | PDF (4.2 MB) | EPUB | Supplemental
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Open Access
A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy
Gang Zou, Rui Qi, Meijiao Ma, Shangyi Fu, Qingnan Liang, Xiaojun Bi, Chanjuan Wang, Xuejun Hu, Yujuan Cai & Xunlun Sheng
Pages: 210-217
Published online: 05 Nov 2021
AbstractforA novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy | Full Text | References | PDF (7 MB) | EPUB
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Open Access
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts
Vanita Berry, Nikolas Pontikos, Alex Ionides, Angelos Kalitzeos, Roy A. Quinlan & Michel Michaelides
Pages: 218-223
Published online: 08 Nov 2021
AbstractforPathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts | Full Text | References | PDF (2.4 MB) | EPUB
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Open Access
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females
Rocio Arce-Gonzalez, Oscar F. Chacon-Camacho, Alejandro Navas-Perez, María C. Gonzalez-Gonzalez, Alan Martinez-Aguilar & Juan Carlos Zenteno
Pages: 224-229
Published online: 29 Nov 2021
AbstractforNovel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females | Full Text | References | PDF (1.4 MB) | EPUB
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Research Report

Macular atrophy in JAG1-related Alagille syndrome: a case series
Manuel Paez-Escamilla, Hannah L. Scanga, Alkiviades Liasis & Ken K. Nischal
Pages: 230-234
Published online: 10 Dec 2021
AbstractforMacular atrophy in JAG1-related Alagille syndrome: a case series | Full Text | References | PDF (1.5 MB) | EPUB
  • 251 Views
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Mutation Report

PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation
Hanna Choi, Alan Cloutier & David Lally
Pages: 235-239
Published online: 14 Dec 2021
AbstractforPRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation | Full Text | References | PDF (2.4 MB) | EPUB
  • 207 Views
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Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis
Juan-Juan Xie, Guo-Wei Zhang, Hai-Yue Cui, Na Li, Xing-Xing Liu, Meng-Yao Hao, Shao-Wen Wang & Hong Lu
Pages: 240-247
Published online: 11 Jan 2022
AbstractforPenetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis | Full Text | References | PDF (4.6 MB) | EPUB | Supplemental
  • 322 Views
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Case Reports

Case Report
Ectopic vortex veins and varices in Donnai Barrow syndrome
Aisling Higham, Göran Darius Hildebrand, Katharine A. J. Graham-Evans, Rodney D. Gilbert, Rachel Horton, David Hunt, Deborah Shears & Chetan Kantibhai Patel
Pages: 248-252
Published online: 27 Oct 2021
AbstractforEctopic vortex veins and varices in Donnai Barrow syndrome | Full Text | References | PDF (974 KB) | EPUB
  • 204 Views
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Case Report
Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis
Zhihang Cheng, Richard Hagan & Damien C. M. Yeo
Pages: 253-257
Published online: 16 Nov 2021
AbstractforIdentification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis | Full Text | References | PDF (3.7 MB) | EPUB
  • 152 Views
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Case Report
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome
Meghana Kalavar, Jose J. Echegaray, Noy Ashkenazy, Craig McKeown & Audina M. Berrocal
Pages: 258-261
Published online: 13 Dec 2021
AbstractforChoroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome | Full Text | References | PDF (2.9 MB) | EPUB
  • 121 Views
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Case Report
Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis
Maryam Rafati, Faezeh Mohamadhashem, Koosha Jalilian, Fatemeh Hoseininasab, Laya Fakhri, Azadeh Hoseini, Hosna Amiri, Zeinab Barati, Somayeh Darzi Ramandi, Nioosha Mostofinezhad, Amir Hosein Mahmoudi & Saeed Reza Ghaffari
Pages: 262-267
Published online: 18 Nov 2021
AbstractforIdentification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis | Full Text | References | PDF (2.1 MB) | EPUB
  • 118 Views
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Case Report
Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations
Robert A. Hyde, Evelina Kratunova, Jason C. Park & J. Jason McAnany
Pages: 268-276
Published online: 07 Dec 2021
AbstractforCone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations | Full Text | References | PDF (3.9 MB) | EPUB
  • 189 Views
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Case Report
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases
H. Al-Hindi, M. Z. Chauhan, R. Sanders, H. Samarah, M. DeBenedictis, E. Traboulsi & S. H. Uwaydat
Pages: 277-281
Published online: 05 Dec 2021
AbstractforTULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases | Full Text | References | PDF (4.4 MB) | EPUB
  • 243 Views
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Letter to the Journal

Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II
Bruno Avelar Miranda, Anna Christina Higino Rocha, Rodrigo Rezende Arantes, Viviane de Cássia Kanufre, Sabrina Cavaglieri Silva & Daniel Vitor Vasconcelos-Santos
Pages: 282-284
Published online: 09 Feb 2022
First Page PreviewforBilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II | Full Text | References | PDF (892.8 KB) | EPUB
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