Ophthalmic Genetics, Volume 43, Issue 5 (2022)

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Ophthalmic Genetics, Volume 43, Issue 5 (2022)

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Review

Review
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males
Lisa C. Vinikoor-Imler, Chris Simpson, Divya Narayanan, Saad Abbasi & Cathy Lally
Pages: 581-588
Published online: 25 Aug 2022
AbstractforPrevalence of RPGR-mutated X-linked retinitis pigmentosa among males | Full Text | References | PDF (530.9 KB) | EPUB | Supplemental
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Research Report

Report
Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant
Leire Irusteta, Arturo Ramírez-Miranda, Alejandro Navas-Pérez, Luis Montes-Almanza, José Arteaga, Froylán García-Martínez, Enrique Graue-Hernández & Juan C. Zenteno
Pages: 589-593
Published online: 26 Apr 2022
AbstractforDetailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant | Full Text | References | PDF (3.1 MB) | EPUB
  • 125 Views
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Report
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China
Tiankun Li, Shuangqing Wu, Yajing Wen, Xin Zhang & Qi Dai
Pages: 594-601
Published online: 28 Apr 2022
AbstractforMutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China | Full Text | References | PDF (4.1 MB) | EPUB
  • 137 Views
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Report
Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis
Line Kessel, Jakob Kjellberg, Kamilla Nissen, Anette Rasmussen & Morten la Cour
Pages: 602-608
Published online: 21 Jun 2022
AbstractforChildhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis | Full Text | References | PDF (1.5 MB) | EPUB | Supplemental
  • 172 Views
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Report
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract
Neda Jabbarpour, Hassan Saei, Mohammad Hossein Jabbarpoor Bonyadi & Mortaza Bonyadi
Pages: 609-614
Published online: 21 Jun 2022
AbstractforIdentification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract | Full Text | References | PDF (4.5 MB) | EPUB
  • 121 Views
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Report
Association of GSTM1, GSTT1, and GSTP1 Ile105Val polymorphisms with risk of age-related macular degeneration: a meta-analysis
Xiaodong Chen & Yunfeng Luo
Pages: 615-621
Published online: 22 Jun 2022
AbstractforAssociation of GSTM1, GSTT1, and GSTP1 Ile105Val polymorphisms with risk of age-related macular degeneration: a meta-analysis | Full Text | References | PDF (667.2 KB) | EPUB
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Report
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family
Vanita Berry, Kaoru Fujinami, Kiyofumi Mochizuki, Takeshi Iwata, Nikolas Pontikos, Roy A. Quinlan & Michel Michaelides
Pages: 622-626
Published online: 23 Jun 2022
AbstractforA recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family | Full Text | References | PDF (1.6 MB) | EPUB
  • 880 Views
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Open Access
Report
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion
Laura Posch-Pertl, Wolfgang List, Monja Michelitsch, Silke Pinter-Hausberger, Bujar Berisha, Florian Posch, Lorenz Kloeckl, Wilfried Renner & Martin Weger
Pages: 627-632
Published online: 27 Jun 2022
AbstractforHeme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion | Full Text | References | PDF (319.7 KB) | EPUB
  • 87 Views
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Report
Experiences of genetic testing among individuals with retinitis pigmentosa
Emily Krauss, Jared Macher, Jenina Capasso, Barbara Bernhardt, Zohra Ali-KhanCatts, Alex Levin & Rachael Brandt
Pages: 633-640
Published online: 07 Jul 2022
AbstractforExperiences of genetic testing among individuals with retinitis pigmentosa | Full Text | References | PDF (318.3 KB) | EPUB
  • 287 Views
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Report
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates
Aditya Rali, Stacy Partin, April Maa, Jiong Yan & Nieraj Jain
Pages: 641-645
Published online: 29 Aug 2022
AbstractforTelemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates | Full Text | References | PDF (1.2 MB) | EPUB
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Case Report

Case Report
Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report
María Camila Sierra-Cote, Juliana Muñoz-Ortiz, Juan Sebastián Botero-Meneses, Carolina Saldarriaga-Santos, Natalia Camacho, William Rojas-Carabali & Alejandra de-la-Torre
Pages: 646-652
Published online: 16 May 2022
AbstractforCentral retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report | Full Text | References | PDF (7 MB) | EPUB
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Open Access
Case Report
High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation
Nawid Faizi, Ingele Casteels, Bruno Termote, Paul Coucke, Elfride De Baere, Marieke De Bruyne & Irina Balikova
Pages: 653-657
Published online: 10 May 2022
First Page PreviewforHigh myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation | Full Text | References | PDF (3.5 MB) | EPUB
  • 133 Views
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Case Report
AAMR syndrome in a 22-month-old and literature review
Mark A. Oet, Venkatesh Brahma, James McGrath & Jennifer A. Galvin
Pages: 658-660
Published online: 23 May 2022
AbstractforAAMR syndrome in a 22-month-old and literature review | Full Text | References | PDF (599.6 KB) | EPUB
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Case Report
Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant
J.-S. Bellingrath, M. E. McClements, M. Shanks, P. Clouston, M. D. Fischer & R. E. MacLaren
Pages: 661-670
Published online: 10 May 2022
AbstractforEnvisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant | Full Text | References | PDF (4.5 MB) | EPUB
  • 1275 Views
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Open Access
Case Report
Variability of retinopathy consequent upon novel mutations in LAMA1
Elena R. Schiff, Nancy Aychoua, Savita Nutan, Indran Davagnanam, Anthony T. Moore, A. G. Robson, C. K. Patel, Andrew R. Webster & Gavin Arno
Pages: 671-678
Published online: 26 May 2022
AbstractforVariability of retinopathy consequent upon novel mutations in LAMA1 | Full Text | References | PDF (2.6 MB) | EPUB | Supplemental
  • 314 Views
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Case Report
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa
Nataša Mihailovic, Simone Schimpf-Linzenbold, Inga Sattler, Nicole Eter & Peter Heiduschka
Pages: 679-684
Published online: 01 Jun 2022
AbstractforThe first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa | Full Text | References | PDF (7.8 MB) | EPUB
  • 208 Views
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Case Report
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection
Cam Loveridge-Easther, Gulunay Kiray, Sarah Hull & Andrea L. Vincent
Pages: 685-688
Published online: 07 Jun 2022
AbstractforHarboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection | Full Text | References | PDF (1.4 MB) | EPUB
  • 135 Views
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Case Report
Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability
Zhour EL Amrani, Siham Chafai Elalaoui, Wafae Jdioui, Aziza Sbiti, Ilham Ratbi, Thomas Liehr, Abdelaziz Sefiani & Abdelhafid Natiq
Pages: 689-692
Published online: 06 Jun 2022
AbstractforComplex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability | Full Text | References | PDF (769.9 KB) | EPUB
  • 109 Views
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Case Report
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI
Tanya Kowalski, Sarah Donoghue, Gerard de Jong & Heather G. Mack
Pages: 693-698
Published online: 06 Jun 2022
AbstractforNovel chorioretinal findings in two siblings with mucopolysaccharidosis type VI | Full Text | References | PDF (2 MB) | EPUB
  • 114 Views
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Case Report
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome
Russell Simmers, Allison Goodwin, Hind Al Saif & Natario Couser
Pages: 699-702
Published online: 27 Jun 2022
AbstractforOphthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome | Full Text | References | PDF (232.5 KB) | EPUB | Supplemental
  • 225 Views
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Case Report
Occult Macular Dystrophy: a case report and major review
Gracia Luoma-Overstreet, Ann Jewell, Vikram Brar & Natario Couser
Pages: 703-708
Published online: 29 Jun 2022
AbstractforOccult Macular Dystrophy: a case report and major review | Full Text | References | PDF (3.1 MB) | EPUB
  • 351 Views
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Case Report
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae
Akshaya L. Thananjeyan, Tanya Karaconji, Maree Flaherty, Sophia Zagora, Robyn V. Jamieson & John R. B. Grigg
Pages: 709-712
Published online: 20 Jun 2022
First Page PreviewforA case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae | Full Text | References | PDF (1.8 MB) | EPUB
  • 122 Views
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Case Report
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia
Arif O. Khan
Pages: 713-715
Published online: 23 Jun 2022
AbstractforA Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia | Full Text | References | PDF (2.4 MB) | EPUB
  • 199 Views
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Case Report
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles
Yeonji Jang, Eunseo Kwak, Joon-Yong An & Jae Ho Jung
Pages: 716-719
Published online: 29 Jun 2022
AbstractforInfantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles | Full Text | References | PDF (2.5 MB) | EPUB
  • 184 Views
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Letters to the Journal

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome
Muhammad Ansar, Samra Javed, Hafiz Muhammad Azhar Baig, Mathieu Quinodoz, Mukhtar Ullah, Ji Hoon Han, Muhammad Usama Rahim, Humera Kausar, Giacomo Calzetti & Carlo Rivolta
Pages: 720-723
Published online: 10 Aug 2022
First Page PreviewforA new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome | Full Text | References | PDF (1.8 MB) | EPUB | Supplemental
  • 1052 Views
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Open Access

Letter to the Editor

Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl
Chae Yeon Lee, Ja-Hyun Jang, Gyule Han, Tae-Young Chung & Dong Hui Lim
Pages: 724-728
Published online: 31 Aug 2022
First Page PreviewforUnilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl | Full Text | References | PDF (7 MB) | EPUB
  • 167 Views
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