Ophthalmic Genetics, Volume 38, Issue 2 (2017)

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Ophthalmic Genetics, Volume 38, Issue 2 (2017)

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Reviews

Review
The 6p25 deletion syndrome: An update on a rare neurocristopathy
Ivo J. H. M. de Vos, Alexander P. A. Stegmann, Carroll A. B. Webers & Constance T. R. M. Stumpel
Pages: 101-107
Published online: 12 Apr 2016
AbstractforThe 6p25 deletion syndrome: An update on a rare neurocristopathy | Full Text | References | PDF (844.1 KB)
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Open Access
Review
Prostaglandins in the eye: Function, expression, and roles in glaucoma
Lance P. Doucette & Michael A. Walter
Pages: 108-116
Published online: 12 Apr 2016
AbstractforProstaglandins in the eye: Function, expression, and roles in glaucoma | Full Text | References | PDF (706.3 KB)
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Current Literature

Nature versus nurture: A systematic approach to elucidate gene–environment interactions in the development of myopic refractive errors
Virginia Miraldi Utz
Pages: 117-121
Published online: 27 May 2016
AbstractforNature versus nurture: A systematic approach to elucidate gene–environment interactions in the development of myopic refractive errors | Full Text | References | PDF (475.8 KB)
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Research Reports

Report
Association of IGF1 and IGF1R gene polymorphisms with high myopia in a Han Chinese population
Pu Wang, Xiaoqi Liu, Zimeng Ye, Bo Gong, Yin Yang, Dingding Zhang, Xuemei Wu, Hong Zheng, Yuanfeng Li, Zhenglin Yang & Yi Shi
Pages: 122-126
Published online: 04 Apr 2016
AbstractforAssociation of IGF1 and IGF1R gene polymorphisms with high myopia in a Han Chinese population | Full Text | References | PDF (447.2 KB)
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Report
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy
Yangfan P. Liu, Daniëlle G. M. Bosch, Anna M. Siemiatkowska, Nanna Dahl Rendtorff, F. Nienke Boonstra, Claes Möller, Lisbeth Tranebjærg, Nicholas Katsanis & Frans P. M. Cremers
Pages: 127-132
Published online: 30 Mar 2016
AbstractforPutative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy | Full Text | References | PDF (793.8 KB) | Supplemental
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Open Access
Report
Analysis of toll-like receptor rs4986790 polymorphism in Saudi patients with primary open angle glaucoma
Khaled K. Abu-Amero, Altaf A. Kondkar, Ahmed Mousa, Taif A. Azad, Tahira Sultan, Essam A. Osman & Saleh A. Al-Obeidan
Pages: 133-137
Published online: 11 Apr 2016
AbstractforAnalysis of toll-like receptor rs4986790 polymorphism in Saudi patients with primary open angle glaucoma | Full Text | References | PDF (418.5 KB)
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Report
Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome
Amani AlBakri, Nicola G. Ghazi & Arif O. Khan
Pages: 138-142
Published online: 18 Apr 2016
AbstractforBiometry, optical coherence tomography, and further clinical observations in Knobloch syndrome | Full Text | References | PDF (553.2 KB)
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Report
Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States
Lauren A. Dalvin, Jose S. Pulido & Alan D. Marmorstein
Pages: 143-147
Published online: 27 Apr 2016
AbstractforVitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States | Full Text | References | PDF (501.8 KB)
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Mutation Reports

Report
Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree
Collette K. Hand, Mairide McGuire, Nollaig A. Parfrey & Conor C. Murphy
Pages: 148-151
Published online: 08 Apr 2016
AbstractforHomozygous SLC4A11 mutation in a large Irish CHED2 pedigree | Full Text | References | PDF (402.5 KB)
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Report
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations
Andrew Kemerley, Christina Sloan, Wanda Pfeifer, Richard Smith & Arlene Drack
Pages: 152-156
Published online: 20 Apr 2016
AbstractforA novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations | Full Text | References | PDF (607.7 KB)
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Case Reports

Case Report
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism
Pedro J. Dávila, Jan P. Ulloa-Padilla & Natalio J. Izquierdo
Pages: 157-160
Published online: 08 Apr 2016
AbstractforPhacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism | Full Text | References | PDF (576 KB)
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Case Report
A new familial case of Jalili syndrome caused by a novel mutation in CNNM4
Vehap Topçu, Muhammed Yunus Alp, Cemile Kedici Alp, Abdullatif Bakır, Dilay Geylan & Meltem Özgül Yılmazoğlu
Pages: 161-166
Published online: 12 Apr 2016
AbstractforA new familial case of Jalili syndrome caused by a novel mutation in CNNM4 | Full Text | References | PDF (905.3 KB)
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Case Report
Posterior amorphous corneal dystrophy caused by a de novo deletion
S. Odent, I. Casteels, C. Cassiman, M. Dieltiëns, M.-T. Hua & K. Devriendt
Pages: 167-170
Published online: 20 Apr 2016
AbstractforPosterior amorphous corneal dystrophy caused by a de novo deletion | Full Text | References | PDF (496.8 KB)
  • 227 Views
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Case Report
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome
Seyhan Yazar, Maria Franchina, Jamie E. Craig, Kathryn P. Burdon & David A. Mackey
Pages: 171-174
Published online: 20 Apr 2016
AbstractforFerritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome | Full Text | References | PDF (390.5 KB)
  • 396 Views
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Case Report
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene
Yuan Wu, Yajie Zheng, Xiaoming Yan, Yu Huang, Yuwu Jiang & Haili Li
Pages: 175-177
Published online: 17 May 2016
AbstractforOcular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene | Full Text | References | PDF (335.5 KB)
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Case Report
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7
Alasdair N. Warwick, Fatima Shawkat & Andrew J. Lotery
Pages: 178-182
Published online: 13 May 2016
AbstractforRetinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7 | Full Text | References | PDF (553.9 KB)
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Case Report
Retinal features in Mulvihill-Smith syndrome
Pallavi Tyagi, Zain Juma & Aravind R. Reddy
Pages: 183-186
Published online: 08 Jun 2016
AbstractforRetinal features in Mulvihill-Smith syndrome | Full Text | References | PDF (566.1 KB)
  • 188 Views
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Letters to the Journal

Letter
Investigation of the association between IL10 gene polymorphisms and Vogt-Koyanagi-Harada disease in a Japanese population
Kaori Higashi, Akira Meguro, Masaki Takeuchi, Takahiro Yamane, Nobuyoshi Kitaichi, Yukihiro Horie, Kenichi Namba, Shigeaki Ohno, Kumiko Nakao, Taiji Sakamoto, Tsutomu Sakai, Hiroshi Tsuneoka, Hiroshi Keino, Annabelle A. Okada, Atsunobu Takeda, Takako Fukuhara, Hisashi Mashimo, Nobuyuki Ohguro, Shinichirou Oono, Hiroshi Enaida, Satoshi Okinami & Nobuhisa Mizuki
Pages: 187-189
Published online: 04 Apr 2016
First Page PreviewforInvestigation of the association between IL10 gene polymorphisms and Vogt-Koyanagi-Harada disease in a Japanese population | Full Text | References | PDF (339.4 KB)
  • 116 Views
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Letter
Isolated maculopathy associated with biallelic CRB1 mutations
Neepa Shah, Mausam R. Damani, Xiaosong Sonia Zhu, Emma C. Bedoukian, Jean Bennett, Albert M. Maguire & Bart P. Leroy
Pages: 190-193
Published online: 20 Apr 2016
First Page PreviewforIsolated maculopathy associated with biallelic CRB1 mutations | Full Text | References | PDF (462.9 KB)
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Letter
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism
Karthikeyan Arcot Sadagopan, Renugadevi Kathirvel, Rosanne B. Keep, P. Sundaresan, Hui Huang, Arndt Rolfs, Kannan Parthiban & P. Vijayalakshmi
Pages: 194-196
Published online: 13 May 2016
First Page PreviewforCutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism | Full Text | References | PDF (355.4 KB)
  • 189 Views
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Letter
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients
M. J. Simões, S. Carmona, R. Roberts, G. Wainwright, C. Faro, E. Silva & C. Egas
Pages: 197-199
Published online: 07 Jun 2016
First Page PreviewforCYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients | Full Text | References | PDF (281.7 KB) | Supplemental
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Corrigendum

Correction
Corrigendum
Page: 200
Published online: 02 Aug 2016
CitationforCorrigendum | Full Text | PDF (71.2 KB)
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