Ophthalmic Genetics, Volume 39, Issue 5 (2018)

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Ophthalmic Genetics, Volume 39, Issue 5 (2018)

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Reviews

Review
Vitamin A in Stargardt disease—an evidence-based update
Cecilie Aalund Federspiel, Mette Bertelsen & Line Kessel
Pages: 555-559
Published online: 25 Jun 2018
AbstractforVitamin A in Stargardt disease—an evidence-based update | Full Text | References | PDF (483.6 KB)
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Review
Gene therapy in inherited retinal degenerative diseases, a review
Vitor K. L. Takahashi, Júlia T. Takiuti, Ruben Jauregui & Stephen H. Tsang
Pages: 560-568
Published online: 24 Jul 2018
AbstractforGene therapy in inherited retinal degenerative diseases, a review | Full Text | References | PDF (787 KB)
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Research Reports

Report
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants
Huajin Li, Evan M. Jones, Hui Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Rui Chen, Fangtian Dong & Ruifang Sui
Pages: 569-576
Published online: 28 Jun 2018
AbstractforClinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants | Full Text | References | PDF (1.3 MB)
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Report
Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation
Arif O. Khan, Nisha Patel, Nicola G. Ghazi, Shahad S. Alzahrani, Stefan T. Arold & Fowzan S. Alkuraya
Pages: 577-583
Published online: 01 Aug 2018
AbstractforFamilial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation | Full Text | References | PDF (1.1 MB)
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Report
Magnetic resonance imaging for tumor restaging after chemotherapy in retinoblastoma with optic nerve invasion
Bhavna Chawla, Shweta Chaurasia, Sanjay Sharma, Rajesh Pattebahadur, Fahmi Hasan, Rachna Seth, Seema Kashyap & Seema Sen
Pages: 584-588
Published online: 08 Aug 2018
AbstractforMagnetic resonance imaging for tumor restaging after chemotherapy in retinoblastoma with optic nerve invasion | Full Text | References | PDF (625 KB)
  • 158 Views
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Research Report

Report
Fundus phenotype in retinitis pigmentosa associated with EYS mutations
Dario Pasquale Mucciolo, Andrea Sodi, Ilaria Passerini, Vittoria Murro, Francesca Cipollini, Isabella Borg, Elisabetta Pelo, Elisa Contini, Gianni Virgili & Stanislao Rizzo
Pages: 589-602
Published online: 28 Aug 2018
AbstractforFundus phenotype in retinitis pigmentosa associated with EYS mutations | Full Text | References | PDF (2.1 MB)
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Research Reports

Report
MicroRNA-related polymorphisms in pseudoexfoliation syndrome, pseudoexfoliative glaucoma, and primary open-angle glaucoma
Anthoula Chatzikyriakidou, Panayiota Founti, Angeliki Melidou, Fani Minti, Emmanouil Bouras, Eleftherios Anastasopoulos, Theofanis Pappas, Anna-Bettina Haidich, Alexandros Lambropoulos & Fotis Topouzis
Pages: 603-609
Published online: 27 Aug 2018
AbstractforMicroRNA-related polymorphisms in pseudoexfoliation syndrome, pseudoexfoliative glaucoma, and primary open-angle glaucoma | Full Text | References | PDF (589.8 KB)
  • 243 Views
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Report
Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa
Vitor K. L. Takahashi, Júlia T. Takiuti, Ruben Jauregui, Luiz H. Lima & Stephen H. Tsang
Pages: 610-614
Published online: 28 Aug 2018
AbstractforStructural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa | Full Text | References | PDF (624 KB)
  • 330 Views
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Report
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations
Thomas J. Wubben, Kari H. Branham, Cagri G. Besirli & Brenda L. Bohnsack
Pages: 615-618
Published online: 21 Aug 2018
AbstractforRetinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations | Full Text | References | PDF (413.3 KB) | Supplemental
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Case Reports

Case Report
Case series: effect of dermis-fat implants in different late onset socket problems encountered in retinoblastoma patients
Daphne L. Mourits, Maarten P. Mourits, Roel J.H.M. Kloos, H. Stevie Tan, Annette C. Moll & Dyonne T. Hartong
Pages: 619-624
Published online: 25 Jun 2018
AbstractforCase series: effect of dermis-fat implants in different late onset socket problems encountered in retinoblastoma patients | Full Text | References | PDF (1 MB)
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Open Access
Case Report
The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis
Sancy Low, Ryian Mohamed, Michelle Ting, Andrew R. Webster & David F. Garway-Heath
Pages: 625-627
Published online: 06 Aug 2018
AbstractforThe treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis | Full Text | References | PDF (765.6 KB) | Supplemental
  • 188 Views
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Case Report
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG)
Arif O. Khan
Pages: 628-630
Published online: 18 Jul 2018
AbstractforEarly-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG) | Full Text | References | PDF (587.3 KB)
  • 200 Views
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Case Report
The uncommon occurrence of two common inherited disorders in a single patient: a mini case series
Francisca Zuazo & Alina V. Dumitrescu
Pages: 631-636
Published online: 29 Aug 2018
AbstractforThe uncommon occurrence of two common inherited disorders in a single patient: a mini case series | Full Text | References | PDF (824 KB)
  • 242 Views
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Case Report
CRX-linked macular dystrophy with intrafamilial variable expressivity
Khaled Romdhane, Veronika Vaclavik, Daniel F. Schorderet, Francis L. Munier & H. Viet Tran
Pages: 637-641
Published online: 01 Aug 2018
AbstractforCRX-linked macular dystrophy with intrafamilial variable expressivity | Full Text | References | PDF (1 MB)
  • 187 Views
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Case Report
Clinical, histopathological, and genetic aspects in one case of ligneous conjunctivitis
Rolf Raimann, Rene Moya, Rodrigo Anguita, Rudolf Kobus, Marcela Pérez & Patricio Gonzalez
Pages: 642-644
Published online: 30 Jul 2018
AbstractforClinical, histopathological, and genetic aspects in one case of ligneous conjunctivitis | Full Text | References | PDF (452.1 KB)
  • 134 Views
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Case Report
Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion
Janine Lenk, Joseph Porrmann, Martin Smitka, Ines Eger, Evelin Schröck, Karl Hackmann, Robert Herber, Frederik Raiskup & Andreas Tzschach
Pages: 645-647
Published online: 30 Jul 2018
AbstractforPosterior amorphous corneal dystrophy in a patient with 12q21.33 deletion | Full Text | References | PDF (662.6 KB)
  • 180 Views
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Case Report
A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene
Julian C. Kelman, Benjamin A. Kamien, Natalia C. Murray, Himanshu Goel, Clare L. Fraser & John R. Grigg
Pages: 648-651
Published online: 17 Aug 2018
AbstractforA sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene | Full Text | References | PDF (837.5 KB)
  • 353 Views
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Case Report
Lurking below: massive choroidal invasion under a calcified tumor after attempted conservative therapy for retinoblastoma
Kaitlin Kogachi, Jonathan W. Kim, Sarah Green, Rima Jubran & Jesse L. Berry
Pages: 653-657
Published online: 24 Aug 2018
AbstractforLurking below: massive choroidal invasion under a calcified tumor after attempted conservative therapy for retinoblastoma | Full Text | References | PDF (712.1 KB)
  • 122 Views
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Letters to the Journal

Letter
Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient
Ang Li, Alisha Gandhi, Heng Wang & Elias I. Traboulsi
Pages: 657-658
Published online: 09 Jul 2018
CitationforBilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient | Full Text | References | PDF (188.4 KB)
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Letter
Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F
Ehab Abdelkader, Sara AlHilali, Christine Neuhaus, Carsten Bergmann, Tahani AlMurshed & Patrik Schatz
Pages: 659-661
Published online: 01 Aug 2018
First Page PreviewforCongenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F | Full Text | References | PDF (595 KB)
  • 183 Views
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Letter
A novel variant in IDH3A identified in a case with Leber congenital amaurosis accompanied by macular pseudocoloboma
Wenmin Sun & Qingjiong Zhang
Pages: 662-663
Published online: 30 Jul 2018
CitationforA novel variant in IDH3A identified in a case with Leber congenital amaurosis accompanied by macular pseudocoloboma | Full Text | References | PDF (332.4 KB)
  • 261 Views
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Letter to the Editor

Letter
Retinal involvement in m.3243A>G carriers
Josef Finsterer & Sinda Zarrouk-Mahjoub
Pages: 664-665
Published online: 06 Jul 2018
CitationforRetinal involvement in m.3243A>G carriers | Full Text | References | PDF (330.6 KB)
  • 56 Views
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Letters to the Editor

Letter
Ectopic thyroid choroidal mass in linear nevus sebaceous syndrome
Jose J. Echegaray, Gabrielle Yeaney, Rachel Chen, Claudine Bellerive & Arun D. Singh
Pages: 666-667
Published online: 10 Jul 2018
CitationforEctopic thyroid choroidal mass in linear nevus sebaceous syndrome | Full Text | References | PDF (660 KB)
  • 82 Views
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Letter
Apolipoprotein E polymorphism and age-related macular degeneration
Sora Yasri & Viroj Wiwanitkit
Page: 668
Published online: 13 Aug 2018
CitationforApolipoprotein E polymorphism and age-related macular degeneration | Full Text | References | PDF (167.7 KB)
  • 120 Views
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Corrigendum

Correction
Corrigendum
Page: 669
Published online: 07 Jun 2018
CitationforCorrigendum | Full Text | PDF (87.5 KB)
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