Ophthalmic Genetics, Volume 31, Issue 4 (2010)

Browse this journal
Sample our Medicine, Dentistry, Nursing & Allied Health journals, sign in here to start your FREE access for 14 days

Ophthalmic Genetics, Volume 31, Issue 4 (2010)

See all volumes and issues
Vol 45, 2024 Vol 44, 2023 Vol 43, 2022 Vol 42, 2021 Vol 41, 2020 Vol 40, 2019 Vol 39, 2018 Vol 38, 2017 Vol 37, 2016 Vol 36, 2015 Vol 35, 2014 Vol 34, 2013 Vol 33, 2012 Vol 32, 2011 Volume 31, 2010 Vol 30, 2009 Vol 29, 2008 Vol 28, 2007 Vol 27, 2006 Vol 26, 2005 Vol 25, 2004 Vol 24, 2003 Vol 23, 2002 Vol 22, 2001 Vol 21, 2000 Vol 20, 1999 Vol 19, 1998 Vol 18, 1997 Vol 17, 1996 Vol 16, 1995 Vol 15, 1994 Vol 14, 1993 Vol 13, 1992 Vol 12, 1991 Vol 11, 1990 Vol 10, 1989 Vol 9, 1988 Vol 8, 1987 Vol 7, 1986 Vol 6, 1985 Vol 5, 1985 Vol 4, 1984 Vol 3, 1983 Vol 2, 1983 Vol 1, 1981-1982
Download citations Download PDFs Download issue

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
  • 4 CrossRef citations
  • 0Altmetric
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
  • 22 CrossRef citations
  • 0Altmetric
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
  • 12 CrossRef citations
  • 0Altmetric
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)
  • 377 Views
  • 12 CrossRef citations
  • 0Altmetric
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
  • 8 CrossRef citations
  • 0Altmetric
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)
  • 147 Views
  • 14 CrossRef citations
  • 0Altmetric
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
  • 12 CrossRef citations
  • 0Altmetric
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
  • 322 Views
  • 3 CrossRef citations
  • 0Altmetric
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)
  • 239 Views
  • 18 CrossRef citations
  • 0Altmetric
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)
  • 205 Views
  • 4 CrossRef citations
  • 0Altmetric
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
  • 15 CrossRef citations
  • 0Altmetric
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
  • 1 CrossRef citations
  • 0Altmetric
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
  • 0Altmetric
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
  • 0Altmetric
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
  • 0Altmetric
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
  • 0Altmetric
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
  • 0Altmetric
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
  • 12 CrossRef citations
  • 0Altmetric

Explore articles

Explore the most recently published articles

Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder
Jessica S. Karuntu et al.
Article | Published online: 25 Apr 2024
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria
Aran Koye et al.
Article | Published online: 17 Apr 2024
Open Access
PRPS1-associated retinopathy: a diagnostic odyssey
Tariq A. Alzahem et al.
Case Report | Published online: 15 Apr 2024
Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study
Ayna Sariyeva Ismayilov et al.
Article | Published online: 15 Apr 2024
View all latest articles