Ophthalmic Genetics, Volume 37, Issue 2 (2016)

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Ophthalmic Genetics, Volume 37, Issue 2 (2016)

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Review

Review
Current Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment
Timothy Johnston, Aman Chandra & Alex W. Hewitt
Pages: 121-129
Published online: 12 Jan 2016
AbstractforCurrent Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment | Full Text | References | PDF (172.1 KB)
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Research Reports

Report
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2
Arif O. Khan, Mohammed Almutlaq, Darren T. Oystreck, Elizabeth C. Engle, Khaled Abu-Amero & Thomas Bosley
Pages: 130-136
Published online: 18 Jun 2014
AbstractforRetinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2 | Full Text | References | PDF (980.8 KB)
  • 188 Views
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Report
Enucleation Refusal for Retinoblastoma: A Global Study
Cristina Olteanu & Helen Dimaras
Pages: 137-143
Published online: 31 Jul 2014
AbstractforEnucleation Refusal for Retinoblastoma: A Global Study | Full Text | References | PDF (131.2 KB) | Supplemental
  • 305 Views
  • 18 CrossRef citations
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Report
Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population
Mojgan Babanejad, Hamidreza Moein, Mohammad R. Akbari, Azadeh Badiei, Mehdi Yaseri, Masoud Soheilian & Hossein Najmabadi
Pages: 144-149
Published online: 23 Jan 2015
AbstractforInvestigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population | Full Text | References | PDF (130 KB)
  • 191 Views
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Report
Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations
Vera L. Bonilha, Mary E. Rayborn, Brent A. Bell, Meghan J. Marino, Gerald A. Fishman & Joe G. Hollyfield
Pages: 150-160
Published online: 29 Sep 2014
AbstractforRetinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations | Full Text | References | PDF (3.2 MB) | Supplemental
  • 443 Views
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Report
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis
Satoshi Katagiri, Takaaki Hayashi, Mineo Kondo, Hideyuki Tsukitome, Kazutoshi Yoshitake, Masakazu Akahori, Kazuho Ikeo, Hiroshi Tsuneoka & Takeshi Iwata
Pages: 161-169
Published online: 12 Dec 2014
AbstractforRPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis | Full Text | References | PDF (2.1 MB)
  • 296 Views
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Report
Role of MMP-2 (-1306 C/T) Polymorphism in Age-Related Macular Degeneration
Rasa Liutkeviciene, Vaiva Lesauskaite, Diana Zaliaduonyte-Peksiene, Giedre Sinkunaite-Marsalkiene, Dalia Zaliuniene, Vaida Mizariene, Olivija Gustiene, Vytautas Jasinskas & Abdonas Tamosiunas
Pages: 170-176
Published online: 02 Sep 2015
AbstractforRole of MMP-2 (-1306 C/T) Polymorphism in Age-Related Macular Degeneration | Full Text | References | PDF (142.6 KB)
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Report
Risk Factors for Second Eye Involvement in Eyes with Unilateral Polypoidal Choroidal Vasculopathy
Yasushi Tateno, Yoichi Sakurada, Seigo Yoneyama, Wataru Kikushima, Fumihiko Mabuchi, Atsushi Sugiyama, Naohiko Tanabe, Takeo Kubota & Hiroyuki Iijima
Pages: 177-182
Published online: 02 Sep 2015
AbstractforRisk Factors for Second Eye Involvement in Eyes with Unilateral Polypoidal Choroidal Vasculopathy | Full Text | References | PDF (533.6 KB)
  • 136 Views
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Report
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy
Ragnhild Wivestad Jansson, Siren Berland, Cecilie Bredrup, Dordi Austeng, Sten Andréasson & Elisabeth Wittström
Pages: 183-193
Published online: 02 Sep 2015
AbstractforBiallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy | Full Text | References | PDF (1.6 MB)
  • 344 Views
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Report
SLC1A1 Gene Variants and Normal Tension Glaucoma: An Association Study
Mami Nishisako, Akira Meguro, Eiichi Nomura, Takahiro Yamane, Masaki Takeuchi, Masao Ota, Kenji Kashiwagi, Fumihiko Mabuchi, Hiroyuki Iijima, Kazuhide Kawase, Tetsuya Yamamoto, Makoto Nakamura, Akira Negi, Takeshi Sagara, Teruo Nishida, Masaru Inatani, Hidenobu Tanihara, Makoto Aihara, Makoto Araie, Takeo Fukuchi, Haruki Abe, Tomomi Higashide, Kazuhisa Sugiyama, Takashi Kanamoto, Yoshiaki Kiuchi, Aiko Iwase, Shinki Chin, Shigeaki Ohno, Hidetoshi Inoko & Nobuhisa Mizuki
Pages: 194-200
Published online: 15 Jan 2016
AbstractforSLC1A1 Gene Variants and Normal Tension Glaucoma: An Association Study | Full Text | References | PDF (426.9 KB)
  • 216 Views
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Report
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1
Simone Kellner, Heidi Stöhr, Britta Fiebig, Silke Weinitz, Ghazaleh Farmand, Ulrich Kellner & Bernhard H. F. Weber
Pages: 201-208
Published online: 15 Jan 2016
AbstractforFundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1 | Full Text | References | PDF (1.6 MB)
  • 246 Views
  • 6 CrossRef citations
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Report
Chemoreduction of Progressive Intraocular Retinoblastoma by Systemic Topotecan
Iyad Sultan, Yasmin Hajja, Ibrahim Nawaiseh, Mustafa Mehyar, Rasha Deebajah, Imad Jaradat & Yacoub A. Yousef
Pages: 209-213
Published online: 13 Jan 2016
AbstractforChemoreduction of Progressive Intraocular Retinoblastoma by Systemic Topotecan | Full Text | References | PDF (424.2 KB)
  • 182 Views
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Case Reports

Case Report
Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene
Solmaz Abdolrahimzadeh, Domenica Carmen Piraino, Rocco Plateroti, Gianluca Scuderi & Santi Maria Recupero
Pages: 214-216
Published online: 02 Sep 2015
AbstractforOcular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene | Full Text | References | PDF (401.9 KB)
  • 171 Views
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Case Report
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene
Justin Wilkin, Natalie C. Kerr, Kathryn W. Byrd, Jewell C. Ward & Alessandro Iannaccone
Pages: 217-227
Published online: 02 Sep 2015
AbstractforCharacterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene | Full Text | References | PDF (1 MB)
  • 335 Views
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Case Report
A Patient with Keratoconus, Nanophthalmos, Lipodermoids, and Pigmentary Retinopathy
Fady K. Sammouh, Tania A. Baban & Elias L. Warrak
Pages: 228-232
Published online: 15 Jan 2016
AbstractforA Patient with Keratoconus, Nanophthalmos, Lipodermoids, and Pigmentary Retinopathy | Full Text | References | PDF (1.8 MB)
  • 101 Views
  • 5 CrossRef citations
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Case Report
3D Orbital Reconstruction in a Patient with Microphthalmos and a Large Orbital Cyst—A Case Report
D. L. Mourits, J. Wolff, T. Forouzanfar, A. Ridwan-Pramana, A. C. Moll, P. de Graaf, J. S. Remmers, E. Kraal-Biezen & D. T. Hartong
Pages: 233-237
Published online: 13 Jan 2016
Abstractfor3D Orbital Reconstruction in a Patient with Microphthalmos and a Large Orbital Cyst—A Case Report | Full Text | References | PDF (458.1 KB)
  • 1533 Views
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Open Access
Case Report
An Unusual Cause of Pseudopapillary Oedema: Hyperphosphatemic Hyperostosis Syndrome
Erhan Yumusak, Fatih Mehmet Mutlu & Faysal Gok
Pages: 238-241
Published online: 12 Jan 2016
AbstractforAn Unusual Cause of Pseudopapillary Oedema: Hyperphosphatemic Hyperostosis Syndrome | Full Text | References | PDF (844.6 KB)
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Letters to the Journal

Letter
Association between the CDKN2B-AS1 Gene and Primary Open Angle Glaucoma with High Myopia in Japanese Patients
Yugo Kimura, Tadamichi Akagi, Masahiro Miyake, Kenji Yamashiro, Munemitsu Yoshikawa, Hiroshi Yamada, Tomoko Hasegawa, Kenji Suda, Hideo Nakanishi, Hanako Ohashi-Ikeda, Norimoto Gotoh, Masanori Hangai, Muka Moriyama, Kyoko Ohno-Matsui & Nagahisa Yoshimura
Pages: 242-244
Published online: 02 Sep 2015
First Page PreviewforAssociation between the CDKN2B-AS1 Gene and Primary Open Angle Glaucoma with High Myopia in Japanese Patients | Full Text | References | PDF (109.9 KB)
  • 225 Views
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Letter
The TNF-α-308G/A Polymorphism is Not Associated with Ocular Chlamydia trachomatis Infection in Han Chinese Children
Wenwen Xue, Qingzhong Wang, Zhiqiang Li, Lina Lu, Jianfeng Zhu, Xiangui He, Rong Zhao, Yongyong Shi & Haidong Zou
Pages: 245-247
Published online: 15 Jan 2016
AbstractforThe TNF-α-308G/A Polymorphism is Not Associated with Ocular Chlamydia trachomatis Infection in Han Chinese Children | Full Text | References | PDF (112.5 KB)
  • 121 Views
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