Ophthalmic Genetics, Volume 39, Issue 3 (2018)

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Ophthalmic Genetics, Volume 39, Issue 3 (2018)

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Research Reports

Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago
Sanket S. Shah, Sudhi P. Kurup, Hantamalala Ralay Ranaivo, Rebecca B. Mets-Halgrimson & Marilyn B. Mets
Pages: 297-299
Published online: 16 Jan 2018
AbstractforPupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago | Full Text | References | PDF (510.8 KB)
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Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family
Xin Jin, Lanlan Chen, Dajiang Wang, Yixin Zhang, Zehua Chen & Houbin Huang
Pages: 300-306
Published online: 29 Jan 2018
AbstractforNovel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family | Full Text | References | PDF (1.1 MB)
  • 183 Views
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Long-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial
Rene Choi, Aruna Gorusupudi & Paul S. Bernstein
Pages: 307-313
Published online: 29 Jan 2018
AbstractforLong-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial | Full Text | References | PDF (1.1 MB)
  • 188 Views
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Identification of PITX3 mutations in individuals with various ocular developmental defects
Celia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, Caroline Michot, Jacmine Pechmeja, Julian Delanne, Edouard Cottereau, Carmen Ayuso, Marta Corton, Patrick Calvas, Nicola Ragge & Nicolas Chassaing
Pages: 314-320
Published online: 06 Feb 2018
AbstractforIdentification of PITX3 mutations in individuals with various ocular developmental defects | Full Text | References | PDF (1,023.7 KB) | Supplemental
  • 302 Views
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The distinct optic disk and peripapillary appearance in Donnai–Barrow syndrome
Arif O. Khan & Nicola G. Ghazi
Pages: 321-324
Published online: 01 Feb 2018
AbstractforThe distinct optic disk and peripapillary appearance in Donnai–Barrow syndrome | Full Text | References | PDF (758.1 KB)
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The relationship between HDAC6, CXCR3, and SIRT1 genes expression levels with progression of primary open-angle glaucoma
Mateusz Siwak, Marcin Maślankiewicz, Alicja Nowak-Zduńczyk, Wioletta Rozpędek, Radosław Wojtczak, Katarzyna Szymanek, Marta Szaflik, Jerzy Szaflik, Jacek P. Szaflik & Ireneusz Majsterek
Pages: 325-331
Published online: 31 Jan 2018
AbstractforThe relationship between HDAC6, CXCR3, and SIRT1 genes expression levels with progression of primary open-angle glaucoma | Full Text | References | PDF (626.2 KB)
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Genetic association of single nucleotide polymorphisms of FZD4 and BDNF genes with retinopathy of prematurity
Zora Lasabova, Andrea Stanclova, Marian Grendar, Silvia Mikolajcikova, Andrea Calkovska, Nina Lenhartova, Peter Ziak, Katarina Matasova, Martin Caprnda, Peter Kruzliak & Mirko Zibolen
Pages: 332-337
Published online: 21 Feb 2018
AbstractforGenetic association of single nucleotide polymorphisms of FZD4 and BDNF genes with retinopathy of prematurity | Full Text | References | PDF (572.1 KB)
  • 137 Views
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OCT-guided management of subclinical recurrent retinoblastoma
Marie-Claire Gaillard, Susan Houghton, Christina Stathopoulos & Francis L. Munier
Pages: 338-343
Published online: 09 Feb 2018
AbstractforOCT-guided management of subclinical recurrent retinoblastoma | Full Text | References | PDF (1.5 MB)
  • 171 Views
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Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia
Nair Gopinathan Vidya, Sankaranarayanan Rajkumar & Abhay R. Vasavada
Pages: 344-352
Published online: 20 Feb 2018
AbstractforGenetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia | Full Text | References | PDF (1.6 MB) | Supplemental
  • 497 Views
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Intravitreal chemotherapy and laser for newly visible subretinal seeds in retinoblastoma
David H. Abramson, Federica Catalanotti, Scott E. Brodie, Michael G. Kellick & Jasmine H. Francis
Pages: 353-356
Published online: 07 Mar 2018
AbstractforIntravitreal chemotherapy and laser for newly visible subretinal seeds in retinoblastoma | Full Text | References | PDF (927.2 KB)
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Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)
Satoshi Katagiri, Takaaki Hayashi, Kei Mizobuchi, Kazutoshi Yoshitake, Takeshi Iwata & Tadashi Nakano
Pages: 357-365
Published online: 09 Apr 2018
AbstractforAutosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly) | Full Text | References | PDF (1.8 MB)
  • 160 Views
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Mutation Report

Identification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma
Kuldeep Mohanty, Rima Dada & Tanuj Dada
Pages: 366-372
Published online: 06 Feb 2018
AbstractforIdentification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma | Full Text | References | PDF (789.1 KB)
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Case Reports

Case Report
Möbius syndrome with cardiac rhabdomyomas
Aimee Verner, Swati Agarwal-Sinha & Frank Yanfeng Han
Pages: 373-376
Published online: 16 Jan 2018
AbstractforMöbius syndrome with cardiac rhabdomyomas | Full Text | References | PDF (548.5 KB)
  • 151 Views
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Case Report
Novel retinal findings in peroxisomal biogenesis disorders
B. E. O’Bryhim, B. A. Kozel & G. T. Lueder
Pages: 377-379
Published online: 29 Jan 2018
AbstractforNovel retinal findings in peroxisomal biogenesis disorders | Full Text | References | PDF (429.5 KB)
  • 138 Views
  • 1 CrossRef citations
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Case Report
Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi
A. Nanda, A. P. Salvetti , C. Martinez-Fernandez de la Camara & R. E. MacLaren
Pages: 380-383
Published online: 29 Jan 2018
AbstractforMisdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi | Full Text | References | PDF (623.8 KB)
  • 256 Views
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Case Report
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations
Nutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, Avrey Thau, Jenina Capasso, Reuven Sharony, Chris F. Inglehearn & Alex V. Levin
Pages: 384-390
Published online: 20 Apr 2018
AbstractforOphthalmic manifestations of Heimler syndrome due to PEX6 mutations | Full Text | References | PDF (1.3 MB)
  • 437 Views
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Case Report
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
Evren Gumus
Pages: 391-395
Published online: 08 Feb 2018
AbstractforCase report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? | Full Text | References | PDF (958.3 KB)
  • 355 Views
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Case Report
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion
Anne-Marie Hinds, Elisabeth Rosser & M. Ashwin Reddy
Pages: 396-398
Published online: 04 Apr 2018
AbstractforA case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion | Full Text | References | PDF (566.9 KB)
  • 302 Views
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Case Report
Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome
Katherine E. Uyhazi, Gil Binenbaum, Nicholas Carducci, Elaine H. Zackai & Tomas S. Aleman
Pages: 399-404
Published online: 10 Apr 2018
AbstractforEarly photoreceptor outer segment loss and retinoschisis in Cohen syndrome | Full Text | References | PDF (880.3 KB) | Supplemental
  • 290 Views
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Letters to the Journal

Risk allele of the FZD4 gene for familial exudative vitreoretinopathy
Hiroyuki Kondo, Eiichi Uchio, Shunji Kusaka & Koichiro Higasa
Pages: 405-406
Published online: 14 Nov 2017
CitationforRisk allele of the FZD4 gene for familial exudative vitreoretinopathy | Full Text | References | PDF (389.3 KB) | Supplemental
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Lack of correlation between age at diagnosis and RB1 mutations for unilateral retinoblastoma: the importance of genetic testing
Jesse L. Berry, Laura Lewis, Emily Zolfaghari, Sarah Green, Bao han A. Le, Thomas C. Lee, A. Linn Murphree, Jonathan W. Kim & Rima Jubran
Pages: 408-410
Published online: 29 Dec 2017
First Page PreviewforLack of correlation between age at diagnosis and RB1 mutations for unilateral retinoblastoma: the importance of genetic testing | Full Text | References | PDF (468.7 KB)
  • 229 Views
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Incidental neuroblastoma with bilateral retinoblastoma: what are the chances?
Kelsey Roelofs, Furqan Shaikh, William Astle, Brenda L. Gallie & Sameh E. Soliman
Pages: 410-413
Published online: 16 Jan 2018
AbstractforIncidental neuroblastoma with bilateral retinoblastoma: what are the chances? | Full Text | References | PDF (527 KB)
  • 155 Views
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Letters to the Editor

Methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy
Beuy Joob & Viroj Wiwanitkit
Page: 414
Published online: 26 Jan 2018
CitationforMethylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy | Full Text | References | PDF (169.2 KB)
  • 55 Views
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Comment: conservative management of massive choroidal relapse in retinoblastoma patients?
Vikas Khetan & Aditya Maitray
Pages: 415-416
Published online: 26 Mar 2018
CitationforComment: conservative management of massive choroidal relapse in retinoblastoma patients? | Full Text | References | PDF (176.5 KB)
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Reply

Reply
Response to Khetan and Maitray’s “Comment: Conservative management of massive choroidal relapse in retinoblastoma patients?”
Christina Stathopoulos, Marie-Claire Gaillard, Francesco Puccinelli, Philippe Maeder, Doris Hadjistilianou, Maja Beck-Popovic & Francis Munier
Page: 417
Published online: 26 Mar 2018
CitationforResponse to Khetan and Maitray’s “Comment: Conservative management of massive choroidal relapse in retinoblastoma patients?” | Full Text | References | PDF (118.6 KB)
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