Ophthalmic Genetics, Volume 41, Issue 4 (2020)

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Ophthalmic Genetics, Volume 41, Issue 4 (2020)

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Review

Association of combined complement factor H Y402H and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: an updated meta-analysis
Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri & Masoud Soheilian
Pages: 301-307
Published online: 14 May 2020
AbstractforAssociation of combined complement factor H Y402H and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: an updated meta-analysis | Full Text | References | PDF (1.2 MB) | EPUB
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Research Reports

Programmed screening for retinoblastoma enhances early diagnosis and improves management outcome for high-risk children
Yacoub A. Yousef, Abdelrahman Alkhoms, Reem AlJabari, Mays AlJboor, Mona Mohammad, Maha Lahlouh, Rasha Deebajah, Hadeel Halalsheh, Maysa Al-Hussaini, Imad Jaradat, Munir Shawagfeh, Iyad Sultan, Mustafa Mehyar & Ibrahim AlNawaiseh
Pages: 308-314
Published online: 20 May 2020
AbstractforProgrammed screening for retinoblastoma enhances early diagnosis and improves management outcome for high-risk children | Full Text | References | PDF (782.4 KB) | EPUB
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Content generation for patient-reported outcome measures for retinal degeneration therapeutic trials
Gabrielle D. Lacy, Maria Fernanda Abalem, Lilia T. Popova, Erin P. Santos, Gina Yu, Hanan Y. Rakine, Julie M. Rosenthal, Joshua R. Ehrlich, David C. Musch & K. Thiran Jayasundera
Pages: 315-324
Published online: 22 Jun 2020
AbstractforContent generation for patient-reported outcome measures for retinal degeneration therapeutic trials | Full Text | References | PDF (1 MB) | EPUB
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Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis
Valdas Stonys, Miglė Lindžiūtė, Alvita Vilkevičiūtė, Greta Gedvilaitė, Loresa Kriaučiūnienė, Mantas Banevičius, Reda Žemaitienė & Rasa Liutkevičienė
Pages: 325-330
Published online: 24 May 2020
AbstractforAssociations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis | Full Text | References | PDF (506.9 KB) | EPUB
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Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases
Mital Shah, Morag Shanks, Emily Packham, Jonathan Williams, Jesse Haysmoore, Robert E. MacLaren, Andrea H. Németh, Penny Clouston & Susan M. Downes
Pages: 331-337
Published online: 16 Jun 2020
AbstractforNext generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases | Full Text | References | PDF (769.8 KB) | EPUB
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Mutation Reports

A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease
Meina Lin, Yongping Lu, Yu Sui, Xiang Ni, Huan Li, Xinren Chen, Ning Zhao & Miao Jiang
Pages: 338-340
Published online: 12 May 2020
AbstractforA novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease | Full Text | References | PDF (379.8 KB) | EPUB
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A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia
Kaylie D. Jones, Alina Radziwon, David G. Birch & Ian M. MacDonald
Pages: 341-344
Published online: 22 May 2020
AbstractforA novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia | Full Text | References | PDF (828.9 KB) | EPUB
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Case Reports

Case Report
Juvenile cataract in association with tuberous sclerosis complex
A. L. Geffrey, K. R. Geenen, E. Abati, S. H. Greenstein, D. K. VanderVeen, R. L. Levy, S. L. Davidson, M. P. McGarrey, E. A. Thiele & M. E. Aronow
Pages: 345-349
Published online: 27 Apr 2020
AbstractforJuvenile cataract in association with tuberous sclerosis complex | Full Text | References | PDF (686.4 KB) | EPUB
  • 193 Views
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Case Report
Molecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult
Sameh E. Soliman, Silvia Martínez, M. Laura De Nicola, Rasmus Kiehl & Hatem Krema
Pages: 350-353
Published online: 16 Jun 2020
AbstractforMolecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult | Full Text | References | PDF (743.2 KB) | EPUB
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Case Report
Senior-Løken syndrome and intracranial hypertension
Su Ann Tay & Andrea L. Vincent
Pages: 354-357
Published online: 20 May 2020
AbstractforSenior-Løken syndrome and intracranial hypertension | Full Text | References | PDF (900.1 KB) | EPUB
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Case Report
A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy
Stephanie N. Kletke, Ajoy Vincent, Jason T. Maynes, Uri Elbaz, Kamiar Mireskandari, Wai-Ching Lam & Asim Ali
Pages: 358-362
Published online: 19 May 2020
AbstractforA de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy | Full Text | References | PDF (630.4 KB) | EPUB
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Case Report
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations
Elaine Han, Nimesh A. Patel, Nicolas A. Yannuzzi, Diana M. Laura, Kenneth C. Fan, Catherin I. Negron, Supalert Prakhunhungsit, Willa L. Thorson & Audina M. Berrocal
Pages: 363-367
Published online: 16 Jun 2020
AbstractforA unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations | Full Text | References | PDF (1.1 MB) | EPUB
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Case Report
Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature
Melissa Shields, Jamie E. Craig, Emmanuelle Souzeau & Aanchal Gupta
Pages: 368-372
Published online: 16 Jun 2020
AbstractforBilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature | Full Text | References | PDF (2.1 MB) | EPUB
  • 161 Views
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Case Report
Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication
Kai Ching Peter Leung & Tak Chuen Simon Ko
Pages: 373-376
Published online: 08 Jun 2020
AbstractforIdentification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication | Full Text | References | PDF (3.6 MB) | EPUB
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Case Report
A novel variant in DOCK6 gene associated with Adams–Oliver syndrome type 2
Tariq Alzahem, Abrar K. Alsalamah, Marco Mura & Sulaiman M. Alsulaiman
Pages: 377-380
Published online: 05 Jun 2020
AbstractforA novel variant in DOCK6 gene associated with Adams–Oliver syndrome type 2 | Full Text | References | PDF (1.5 MB) | EPUB
  • 247 Views
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Case Report
Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling
Shaza N. Al-Holou, Edward Siefker, Samiksha Fouzdar-Jain, Donny W. Suh & William B. Rizzo
Pages: 381-385
Published online: 08 Jun 2020
AbstractforMacular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling | Full Text | References | PDF (7.3 MB) | EPUB
  • 131 Views
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Case Report
Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy
Jeeyun Ahn, John Chiang & Michael B. Gorin
Pages: 386-389
Published online: 29 Jun 2020
AbstractforNovel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy | Full Text | References | PDF (6.3 MB) | EPUB
  • 335 Views
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Letters to the Journal

Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family
Yanling Long, Sha Li, Limeng Dai, Xiao Liu, Xin Yin, Jiayun Ren, Hong Guo, Yong Liu, Xiaohong Meng & Shiying Li
Pages: 390-393
Published online: 29 Apr 2020
First Page PreviewforNonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family | Full Text | References | PDF (989.1 KB) | EPUB
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Long-term resolution of chronic macular edema after a single dose of intravitreal dexamethasone in familial retinal arterial macroaneurysm
Abdulrahman AlZaid, Moustafa Magliyah, Patrik Schatz & Hassan Al-Dhibi
Pages: 394-396
Published online: 19 May 2020
AbstractforLong-term resolution of chronic macular edema after a single dose of intravitreal dexamethasone in familial retinal arterial macroaneurysm | Full Text | References | PDF (815.1 KB) | EPUB
  • 109 Views
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Letters to The Journal

Optimizing the storage of chemotherapeutics for ophthalmic oncology: stability of topotecan solution for intravitreal injection
F. Bossacoma, M. Cuadrado-Vilanova, J. Vinent, M.G. Correa, D. Gavrus, H. Castillo-Ecija, J. Catala-Mora, J. Mora, P. Schaiquevich, G.L. Chantada & A. M. Carcaboso
Pages: 397-400
Published online: 03 Jun 2020
AbstractforOptimizing the storage of chemotherapeutics for ophthalmic oncology: stability of topotecan solution for intravitreal injection | Full Text | References | PDF (434.3 KB) | EPUB
  • 250 Views
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Correction

Correction
Correction
Page: I
Published online: 13 May 2020
CitationforCorrection | Full Text | PDF (87 KB) | EPUB
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