Ophthalmic Genetics, Volume 38, Issue 3 (2017)

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Ophthalmic Genetics, Volume 38, Issue 3 (2017)

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Current Literature

Article
Pharmacological approaches to restoring lens transparency: Real world applications
Cassandra Skinner & Virginia Miraldi Utz
Pages: 201-205
Published online: 20 Sep 2016
AbstractforPharmacological approaches to restoring lens transparency: Real world applications | Full Text | References | PDF (414.6 KB)
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Research Reports

Report
Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness
Handong Dan, Xiusheng Song, Jiazhang Li, Yiqiao Xing & Tuo Li
Pages: 206-210
Published online: 18 Jul 2016
AbstractforMutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness | Full Text | References | PDF (581 KB) | Supplemental
  • 271 Views
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Report
Matrix metalloproteinase-1 rs1799750 polymorphism and glaucoma: A meta-analysis
Miao He, Wei Wang, Xiao Han & Wenyong Huang
Pages: 211-216
Published online: 18 Jul 2016
AbstractforMatrix metalloproteinase-1 rs1799750 polymorphism and glaucoma: A meta-analysis | Full Text | References | PDF (708.5 KB)
  • 186 Views
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Report
Association analysis of PPARγ (p.Pro12Ala) polymorphism with type 2 diabetic retinopathy in patients from north India
Navdeep Kaur & Vanita Vanita
Pages: 217-221
Published online: 18 Jul 2016
AbstractforAssociation analysis of PPARγ (p.Pro12Ala) polymorphism with type 2 diabetic retinopathy in patients from north India | Full Text | References | PDF (419.1 KB)
  • 145 Views
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Report
Clinical and genetic characterization of a large primary open angle glaucoma pedigree
Mohideen Abdul Kader, Prasanthi Namburi, Sarika Ramugade, R. Ramakrishnan, Subbiah R. Krishnadas, Ben R. Roos, Sundaresan Periasamy, Alan L. Robin & John H. Fingert
Pages: 222-225
Published online: 29 Jun 2016
AbstractforClinical and genetic characterization of a large primary open angle glaucoma pedigree | Full Text | References | PDF (395.5 KB)
  • 224 Views
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Report
Knowledge of genetics in familial retinoblastoma
Sameh E. Soliman, Mostafa ElManhaly & Helen Dimaras
Pages: 226-232
Published online: 18 Jul 2016
AbstractforKnowledge of genetics in familial retinoblastoma | Full Text | References | PDF (629.8 KB)
  • 368 Views
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Report
SCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area
Daiva Stanislovaitiene, Dalia Zaliuniene, Algimantas Krisciukaitis, Robertas Petrolis, Alina Smalinskiene, Vita Lesauskaite, Abdonas Tamosiunas & Vaiva Lesauskaite
Pages: 233-237
Published online: 18 Jul 2016
AbstractforSCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area | Full Text | References | PDF (528 KB)
  • 177 Views
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Report
Bull’s eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch’s membrane in Alport syndrome
Judy Savige, Yanyan Wang, Andrew Crawford, James Smith, Andrew Symons, Heather Mack, Kathy Nicholls, Diane Wilson & Deb Colville
Pages: 238-244
Published online: 02 Aug 2016
AbstractforBull’s eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch’s membrane in Alport syndrome | Full Text | References | PDF (677.2 KB)
  • 330 Views
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Report
Association between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis
Ping Shuai, Zimeng Ye, Yuping Liu, Chao Qu, Xiaoqi Liu, Huaichao Luo, Xiaoyun Feng, Xiulan Li, Yi Shi & Bo Gong
Pages: 245-251
Published online: 02 Aug 2016
AbstractforAssociation between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis | Full Text | References | PDF (710 KB)
  • 218 Views
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Report
Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life
Markus N. Preising, Michaela Abura, Melanie Jäger, Klaus-Heiko Wassill & Birgit Lorenz
Pages: 252-259
Published online: 02 Aug 2016
AbstractforOcular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life | Full Text | References | PDF (958.8 KB)
  • 391 Views
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Report
Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss
Dhandayuthapani Sudha, Irene Rosita Pia Patric, Aparna Ganapathy, Smitha Agarwal, Shuba Krishna, Srividya Neriyanuri, Sarangapani Sripriya, Parveen Sen, Subbulakshmi Chidambaram & Jayamuruga Pandian Arunachalam
Pages: 260-266
Published online: 22 Sep 2016
AbstractforGenetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss | Full Text | References | PDF (798.3 KB) | Supplemental
  • 209 Views
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Case Reports

Case Report
Intrafamilial heterogeneity of congenital optic disc pit maculopathy
Settimio Rossi, Giuseppe De Rosa, Francesco Maria D’Alterio, Ada Orrico, Sandro Banfi, Francesco Testa & Francesca Simonelli
Pages: 267-272
Published online: 08 Jun 2016
AbstractforIntrafamilial heterogeneity of congenital optic disc pit maculopathy | Full Text | References | PDF (727.6 KB)
  • 146 Views
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Case Report
A case of traction retinal detachment in a patient with Gaucher disease
Akira Watanabe, Tamaki Gekka, Kota Arai & Hiroshi Tsuneoka
Pages: 273-276
Published online: 18 Jul 2016
AbstractforA case of traction retinal detachment in a patient with Gaucher disease | Full Text | References | PDF (547.1 KB)
  • 198 Views
  • 6 CrossRef citations
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Case Report
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome
Francisco Gonzalez, Lourdes Loidi & Jose M. Abalo-Lojo
Pages: 277-280
Published online: 02 Aug 2016
AbstractforNovel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome | Full Text | References | PDF (479.5 KB)
  • 216 Views
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Letters to the Journal

Letter
Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas
Julius T. Oatts, Sarah Hull, Michel Michaelides, Gavin Arno, Andrew R. Webster & Anthony T. Moore
Pages: 281-283
Published online: 07 Jun 2016
First Page PreviewforNovel heterozygous mutation in YAP1 in a family with isolated ocular colobomas | Full Text | References | PDF (432.8 KB)
  • 364 Views
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Letter
A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis
Sevcan Tuğ Bozdoğan, Erdem Dinç, A. Ayça Sarı, Anıl Özgür & Atıl Bişgin
Pages: 284-285
Published online: 07 Jun 2016
CitationforA novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis | Full Text | References | PDF (293 KB)
  • 287 Views
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Letter
A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype
Satoshi Katagiri, Takaaki Hayashi, Tamaki Gekka & Hiroshi Tsuneoka
Pages: 286-287
Published online: 27 Jun 2016
CitationforA novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype | Full Text | References | PDF (298.8 KB)
  • 156 Views
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Letter
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles
Ahmet Cevdet Ceylan, Huseyin Gursoy, Nilgun Yildirim, Hikmet Basmak, Nazmiye Erol & Oguz Cilingir
Pages: 288-290
Published online: 18 Jul 2016
First Page PreviewforClinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles | Full Text | References | PDF (454.3 KB) | Supplemental
  • 338 Views
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Letter
Retinoblastoma versus advanced Coats’ disease: Is enucleation the answer?
Sameh E. Soliman, Michael J. Wan, Elise Heon, Lili-Naz Hazrati & Brenda Gallie
Pages: 291-293
Published online: 19 Jul 2016
First Page PreviewforRetinoblastoma versus advanced Coats’ disease: Is enucleation the answer? | Full Text | References | PDF (414.7 KB)
  • 234 Views
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Letter
Observations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucoma
Najah O. Al-Shahrani & Arif O. Khan
Page: 294
Published online: 20 Jul 2016
CitationforObservations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucoma | Full Text | References | PDF (154.4 KB)
  • 152 Views
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Letter
Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation
Ujwala S. Saboo, Devi Penke, Avinash Mahindrakar, Madhu Uddaraju, Chandrasekhar Sankurathri, Xin Gong, Chao Xing & V. Vinod Mootha
Pages: 295-297
Published online: 26 Sep 2016
First Page PreviewforExome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation | Full Text | References | PDF (394.8 KB)
  • 192 Views
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Letters to the Editor

Letter
Ophthalmologic involvement in mitochondrial disorders
Josef Finsterer & Sinda Zarrouk-Mahjoub
Page: 298
Published online: 18 Jul 2016
CitationforOphthalmologic involvement in mitochondrial disorders | Full Text | References | PDF (252.4 KB)
  • 63 Views
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Letter
Authors’ response to Finsterer and Zarrouk-Mahjoub’s comments
Sumit Parikh, Cheng-Cheng Zhu & Elias I. Traboulsi
Page: 299
Published online: 21 Jul 2016
CitationforAuthors’ response to Finsterer and Zarrouk-Mahjoub’s comments | Full Text | References | PDF (148.7 KB)
  • 47 Views
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Corrigendum

Correction
Corrigendum
Page: 300
Published online: 17 Jan 2017
CitationforCorrigendum | Full Text | PDF (72.5 KB)
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