Ophthalmic Genetics, Volume 40, Issue 4 (2019)

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Ophthalmic Genetics, Volume 40, Issue 4 (2019)

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Reviews

Review
Non-paraneoplastic related retinopathy: clinical challenges and review
Júlia T. Takiuti, Vitor K. L. Takahashi, Christine L. Xu, Ruben Jauregui & Stephen H. Tsang
Pages: 293-297
Published online: 08 Aug 2019
AbstractforNon-paraneoplastic related retinopathy: clinical challenges and review | Full Text | References | PDF (536.6 KB) | EPUB
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Review
Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype
Samiksha Fouzdar-Jain, Donny W Suh & William B Rizzo
Pages: 298-308
Published online: 12 Sep 2019
AbstractforSjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype | Full Text | References | PDF (1.4 MB) | EPUB
  • 437 Views
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Research Reports

Report
Genetic factors for idiopathic choroidal neovascularization
Xu-Sheng Cao, Xiao-Yan Peng, Qi-Sheng You, Fen Liu, Yuan-Jie Ding & Hong-Li Yang
Pages: 309-312
Published online: 12 Sep 2019
AbstractforGenetic factors for idiopathic choroidal neovascularization | Full Text | References | PDF (376.4 KB) | EPUB
  • 190 Views
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Report
Optic neuropathy in classical methylmalonic acidemia
Mohammed AlOwain, Ola Ali Khalifa, Zahra Al Sahlawi, Maged H Hussein, Raashda A Sulaiman, Moeen Al-Sayed, Zuhair Rahbeeni, Zuhair Al-Hassnan, Hamad Al-Zaidan, Hachemi Nezzar, Iftetah Al Homoud, Abdelmoneim Eldali, Brian Altonen, Bedour S Handoom & Joyce N Mbekeani
Pages: 313-322
Published online: 04 Jul 2019
AbstractforOptic neuropathy in classical methylmalonic acidemia | Full Text | References | PDF (1.3 MB) | EPUB
  • 319 Views
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Report
Estrogen receptor gene polymorphisms and their influence on clinical status of Caucasian patients with primary open angle glaucoma
Ewa Kosior-Jarecka, Małgorzata Sagan, Dominika Wróbel-Dudzińska, Urszula Łukasik, Tin Aung, Chiea Chuen Khor, Janusz Kocki & Tomasz Żarnowski
Pages: 323-328
Published online: 19 Jul 2019
AbstractforEstrogen receptor gene polymorphisms and their influence on clinical status of Caucasian patients with primary open angle glaucoma | Full Text | References | PDF (632.2 KB) | EPUB
  • 170 Views
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Report
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene
Yosra Bouyacoub, Yousra Falfoul, Mariem Ouederni, Marwa Sayeb, Aschraf Chedli, Mariem Chargui, Hela Sassi, Ilhem Chakroun Chenguel, Francis L. Munier, Leila El Matri, Sonia Abdelhak & Monia Cheour
Pages: 329-337
Published online: 19 Jul 2019
AbstractforGranular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene | Full Text | References | PDF (1.5 MB) | EPUB
  • 169 Views
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Report
Clinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese
Xue Pan & Shufeng Zheng
Pages: 338-341
Published online: 13 Aug 2019
AbstractforClinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese | Full Text | References | PDF (860.1 KB) | EPUB
  • 250 Views
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Report
Association study of high-frequency variants of MTHFR gene with retinal vein occlusion in a Spanish population
Beatriz Fernández-Vega, Lydia Álvarez, Montserrat García, Enol Artime, Adrián González Fernández, Carlos Fernández-Vega, Javier Nicieza, José A. Vega & Héctor González-Iglesias
Pages: 342-349
Published online: 16 Aug 2019
AbstractforAssociation study of high-frequency variants of MTHFR gene with retinal vein occlusion in a Spanish population | Full Text | References | PDF (1.1 MB) | EPUB | Supplemental
  • 132 Views
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Report
Efficacy of topical brinzolamide in children with retinal dystrophies
Brittni A. Scruggs, Constance V. Chen, Wanda Pfeifer, Jill S. Wiley, Kai Wang & Arlene V. Drack
Pages: 350-358
Published online: 09 Sep 2019
AbstractforEfficacy of topical brinzolamide in children with retinal dystrophies | Full Text | References | PDF (1.6 MB) | EPUB | Supplemental
  • 247 Views
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Case Reports

Case Report
Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome
Sung Eun Park, Jihei Sara Lee, Seung-Tae Lee, Hye Young Kim, Sueng-Han Han & Jinu Han
Pages: 359-361
Published online: 08 Aug 2019
AbstractforTargeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome | Full Text | References | PDF (585.7 KB) | EPUB
  • 379 Views
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Case Report
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration
Shawn Philip, Xiaoyu Xu, Ketan G. Laud, Jesse D. Sengillo, Stephen H. Tsang & Lawrence A. Yannuzzi
Pages: 362-364
Published online: 19 Aug 2019
AbstractforChoroidal neovascularization in an adolescent with RDH12-associated retinal degeneration | Full Text | References | PDF (529.1 KB) | EPUB
  • 155 Views
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Case Report
Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation
Vasily M. Smirnov, Caroline Marks, Isabelle Drumare, Sabine Defoort-Dhellemmes & Claire-Marie Dhaenens
Pages: 365-368
Published online: 22 Aug 2019
AbstractforSevere retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation | Full Text | References | PDF (893.9 KB) | EPUB
  • 178 Views
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Case Report
Modification of the PROM1 disease phenotype by a mutation in ABCA4
Winston Lee, Maarjaliis Paavo, Jana Zernant, Nicholas Stong, Zachary Laurente, Srilaxmi Bearelly, Takayuki Nagasaki, Stephen H. Tsang, David B. Goldstein & Rando Allikmets
Pages: 369-375
Published online: 06 Sep 2019
AbstractforModification of the PROM1 disease phenotype by a mutation in ABCA4 | Full Text | References | PDF (1.2 MB) | EPUB
  • 311 Views
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Case Report
Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy
Veena Vedartham, Soumya Sundaram, Sruthi S Nair, Aparna Ganapathy, Ashraf Mannan & Ramshekhar Menon
Pages: 376-379
Published online: 16 Sep 2019
AbstractforHomozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy | Full Text | References | PDF (725.2 KB) | EPUB | Supplemental
  • 160 Views
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Case Report
A new novel nonsense mutation in AIPL1 in a LCA4 family
Ling Wan, Li Xiang, Haixin Wang, Yi Shi, Dan Jiang, Fang Hao & Lulin Huang
Pages: 380-384
Published online: 02 Oct 2019
AbstractforA new novel nonsense mutation in AIPL1 in a LCA4 family | Full Text | References | PDF (763.4 KB) | EPUB | Supplemental
  • 155 Views
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Case Report
Intraretinal hyperreflective foci in PXE-related retinopathy with acquired vitelliform lesions: a long-term follow-up
Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Andrea Sodi, Federica Boraldi, Daniela Quaglino, Gianni Virgili & Stanislao Rizzo
Pages: 385-387
Published online: 21 Sep 2019
AbstractforIntraretinal hyperreflective foci in PXE-related retinopathy with acquired vitelliform lesions: a long-term follow-up | Full Text | References | PDF (768 KB) | EPUB
  • 88 Views
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Letter to the Journal

Letter
Angiotensin-converting enzyme gene polymorphism in Behçet’s disease in Iranian population
Naser Rouhi, Saba A. Nazm, Mortaza Bonyadi, Mohammad Hossein Jabbarpoor Bonyadi & Masoud Soheilian
Pages: 388-389
Published online: 06 Aug 2019
CitationforAngiotensin-converting enzyme gene polymorphism in Behçet’s disease in Iranian population | Full Text | References | PDF (239.7 KB) | EPUB
  • 80 Views
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Letter to the Editor

Letter
Bietti’s crystalline dystrophy in Nepalese patients: when genetic analysis supports clinical diagnosis
Barsha Suwal, Sanyam Bajimaya & Paul S. Bernstein
Pages: 390-392
Published online: 12 Sep 2019
First Page PreviewforBietti’s crystalline dystrophy in Nepalese patients: when genetic analysis supports clinical diagnosis | Full Text | References | PDF (642.6 KB) | EPUB
  • 117 Views
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