Ophthalmic Genetics, Volume 31, Issue 4 (2010)

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Ophthalmic Genetics, Volume 31, Issue 4 (2010)

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Original Article

Article
Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies
Thomas M. Bosley & Khaled K. Abu-Amero
Pages: 163-172
Published online: 11 Nov 2010
AbstractforAssessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies | Full Text | References | PDF (607.2 KB)
  • 193 Views
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Article
Endothelial Nitric Oxide Synthase genotypes in the etiology of retinopathy of prematurity in premature infants
Krishna Yanamandra, Dawn Napper, Arun Pramanik, Joseph A. Bocchini Jr & Ramasubbareddy Dhanireddy
Pages: 173-177
Published online: 01 Sep 2010
AbstractforEndothelial Nitric Oxide Synthase genotypes in the etiology of retinopathy of prematurity in premature infants | Full Text | References | PDF (535.9 KB)
  • 152 Views
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Article
Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3
Krishna Mukkamala, Ronald C. Gentile, Judith Willner & Stephen Tsang
Pages: 178-182
Published online: 11 Nov 2010
AbstractforChoroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3 | Full Text | References | PDF (723.5 KB)
  • 63 Views
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Article
Historical evolution in the understanding of Stargardt macular dystrophy
Gerald Allen Fishman
Pages: 183-189
Published online: 01 Sep 2010
AbstractforHistorical evolution in the understanding of Stargardt macular dystrophy | Full Text | References | PDF (838.8 KB)
  • 379 Views
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Article
106Ruthenium brachytherapy for ciliary recurrence with supraciliary effusion in retinoblastoma
Jay Chhablani, Antonio Romanzo, Aubin Balmer, Alessia Pica, Marie-Claire Gaillard, Raffaele Cozza, Raphaël Moeckli & Francis L. Munier
Pages: 190-192
Published online: 01 Sep 2010
Abstractfor106Ruthenium brachytherapy for ciliary recurrence with supraciliary effusion in retinoblastoma | Full Text | References | PDF (584.8 KB)
  • 75 Views
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Article
A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings
Gerard P. Barry, Betina Mucha-Le Ny, Elaine H. Zackai, Lili Grunwald & Brian J. Forbes
Pages: 193-195
Published online: 01 Sep 2010
AbstractforA case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings | Full Text | References | PDF (615 KB)
  • 149 Views
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Article
Reduced frequency of known mutations in a cohort of LHON patients from India
Periasamy Sundaresan, S. Mahesh Kumar, Stewart Thompson & John H. Fingert
Pages: 196-199
Published online: 01 Sep 2010
AbstractforReduced frequency of known mutations in a cohort of LHON patients from India | Full Text | References | PDF (529.8 KB)
  • 104 Views
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Article
Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations
Mohamed Ksantini, Audrey Sénéchal, Béatrice Bocquet, Isabelle Meunier, Philippe Brabet & Christian P Hamel
Pages: 200-204
Published online: 11 Nov 2010
AbstractforScreening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations | Full Text | References | PDF (579.4 KB) | Supplemental
  • 324 Views
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Article
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly
K. Aliferis, C. Marsal, V. Pelletier, B. Doray, M.M. Weiss, C.M.J. Tops, C. Speeg-Schatz, S.A.J. Lesnik & H. Dollfus
Pages: 205-208
Published online: 11 Nov 2010
AbstractforA novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly | Full Text | References | PDF (571.8 KB)
  • 241 Views
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Article
Astrocytic Hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2
Reecha Sachdeva, David A. Rothner, Elias I. Traboulsi, Brandy C. Hayden & Paul J. Rychwalski
Pages: 209-214
Published online: 11 Nov 2010
AbstractforAstrocytic Hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2 | Full Text | References | PDF (672.1 KB)
  • 206 Views
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Article
Genetic susceptibility to Graves’ ophthalmopathy: The role of polymorphisms in anti-inflammatory cytokine genes
Omid Khalilzadeh, Mehdi Anvari, Alireza Esteghamati, Fatemeh Momen-Heravi, Armin Rashidi, Hoda Mojazi Amiri, Maryam Tahvildari, Mahdi Mahmoudi & Aliakbar Amirzargar
Pages: 215-220
Published online: 11 Nov 2010
AbstractforGenetic susceptibility to Graves’ ophthalmopathy: The role of polymorphisms in anti-inflammatory cytokine genes | Full Text | References | PDF (546.3 KB)
  • 106 Views
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Article
Hereditary primary lateral sclerosis with cone dysfunction
Sri Gore, Lucinda Carr, Anthony Moore & Dorothy Thompson
Pages: 221-226
Published online: 11 Nov 2010
AbstractforHereditary primary lateral sclerosis with cone dysfunction | Full Text | References | PDF (695.6 KB)
  • 76 Views
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Article
Congenital cataracts in two siblings with Wolfram Syndrome
Rebecca B. Mets, Sarah B. Emery, Marci M. Lesperance & Marilyn B. Mets
Pages: 227-229
Published online: 11 Nov 2010
AbstractforCongenital cataracts in two siblings with Wolfram Syndrome | Full Text | References | PDF (566.2 KB)
  • 278 Views
  • 10 CrossRef citations
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Article
Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene
Petra Liskova, Martin Filipec, Stanislava Merjava, Katerina Jirsova & Stephen J. Tuft
Pages: 230-234
Published online: 11 Nov 2010
AbstractforVariable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene | Full Text | References | PDF (682.9 KB)
  • 181 Views
  • 23 CrossRef citations
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Article
Microperimetry and OCT findings in female carriers of choroideremia
Azzrah Thobani, Anastasios Anastasakis & Gerald A. Fishman
Pages: 235-239
Published online: 11 Nov 2010
AbstractforMicroperimetry and OCT findings in female carriers of choroideremia | Full Text | References | PDF (679 KB)
  • 205 Views
  • 18 CrossRef citations
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Article
Ptosis as an associated finding in maternally inherited diabetes and deafness
Kirsten Robberecht, Christian Decock, Annemie Stevens, Sara Seneca, Jan De Bleecker & Bart P. Leroy
Pages: 240-243
Published online: 11 Nov 2010
AbstractforPtosis as an associated finding in maternally inherited diabetes and deafness | Full Text | References | PDF (853.2 KB)
  • 109 Views
  • 7 CrossRef citations
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Article
Diabetic retinopathy: Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort
Satagopan Uthra, Rajiv Raman, Bickol N. Mukesh, Samuel A. Rajkumar, Padmaja Kumari, Praveena Lakshmipathy, Perumal Gnanamoorthy, Tarun Sharma, Catherine A McCarty & Govindasamy Kumaramanickavel
Pages: 244-251
Published online: 11 Nov 2010
AbstractforDiabetic retinopathy: Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort | Full Text | References | PDF (574.1 KB)
  • 209 Views
  • 14 CrossRef citations
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Article
Keratoconus associated with Williams–Beuren syndrome: First case reports
Loic Pinsard, David Touboul, Yen Vu, Didier Lacombe, Francois Leger & Joseph Colin
Pages: 252-256
Published online: 11 Nov 2010
AbstractforKeratoconus associated with Williams–Beuren syndrome: First case reports | Full Text | References | PDF (914.7 KB)
  • 111 Views
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