Ophthalmic Genetics, Volume 42, Issue 3 (2021)

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Ophthalmic Genetics, Volume 42, Issue 3 (2021)

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Research Reports

The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1
Corina M. Chilibeck, Shaheen Shah, Heather C. Russell & Andrea L. Vincent
Pages: 223-229
Published online: 17 Feb 2021
AbstractforThe presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1 | Full Text | References | PDF (4.6 MB) | EPUB
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Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism
Line Kessel, Birgit Kjer, Ulrikke Lei, Morten Duno & Karen Grønskov
Pages: 230-238
Published online: 22 Feb 2021
AbstractforGenotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism | Full Text | References | PDF (1.8 MB) | EPUB
  • 458 Views
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Association study of fibroblast growth factor 10 (FGF10) rs399501 polymorphism with susceptibility to high myopia in a Chinese population
Xiu Jiang, Tian Tong, Ning Xia, Ling Wu, Cong Zhang, Yue Zhang & Ruo-Xi Li
Pages: 239-242
Published online: 23 Feb 2021
AbstractforAssociation study of fibroblast growth factor 10 (FGF10) rs399501 polymorphism with susceptibility to high myopia in a Chinese population | Full Text | References | PDF (316.6 KB) | EPUB
  • 67 Views
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Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism
Miriam Ehrenberg, Laura Bagdonite-Bejarano, Anne B. Fulton, Naama Orenstein & Claudia Yahalom
Pages: 243-251
Published online: 17 Feb 2021
AbstractforGenetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism | Full Text | References | PDF (3.7 MB) | EPUB
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Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model
Tomas S. Aleman, Erin C. O’Neil, Keli O’Connor, Yu You Jiang, Isabella A. Aleman, Jean Bennett, Jessica I. W. Morgan & Brian W. Toussaint
Pages: 252-265
Published online: 17 Mar 2021
AbstractforBardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model | Full Text | References | PDF (9 MB) | EPUB
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Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy
Zhiqin Huang, Dan Zhang, Jennifer A. Thompson, Saumya S. Jamuar, Danial Roshandel, Luke Jennings, Carla Mellough, Jason Charng, Shang-Chih Chen, Terri L. McLaren, Tina M. Lamey, Enid Chelva, John N. De Roach, Choi Mun Chan, Samuel McLenachan & Fred K. Chen
Pages: 266-275
Published online: 24 Feb 2021
AbstractforDeep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy | Full Text | References | PDF (5.1 MB) | EPUB | Supplemental
  • 365 Views
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Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
Mustafa Doğan, Recep Eröz & Emrah Öztürk
Pages: 276-282
Published online: 02 Mar 2021
AbstractforChorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene | Full Text | References | PDF (2.6 MB) | EPUB
  • 223 Views
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Calculation of test-retest variability in phase I/IIa clinical trials for Inherited Retinal Degenerations
Jacob Jeries Abou-Hanna, Chris A. Andrews, Naheed W. Khan, David C. Musch & K. Thiran Jayasundera
Pages: 283-290
Published online: 17 Mar 2021
AbstractforCalculation of test-retest variability in phase I/IIa clinical trials for Inherited Retinal Degenerations | Full Text | References | PDF (437.7 KB) | EPUB | Supplemental
  • 107 Views
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Mutation Reports

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing
Rodrigo Mendez, Sumaiya Iqbal, Sebastián Vishnopolska, Cinthia Martinez, Glenda Dibner, Rocio Aliano, Jonathan Zaiat, Germán Biagioli, Cecilia Fernandez, Adrian Turjanski, Arthur J Campbell, Graciela Mercado & Marcelo A. Marti
Pages: 291-295
Published online: 18 Feb 2021
AbstractforOculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing | Full Text | References | PDF (3.4 MB) | EPUB | Supplemental
  • 260 Views
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Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1
M. Delle Fave, M. Cordonnier, l. Vallee, C. Condroyer, C. Zeitz & I. Balikova
Pages: 296-299
Published online: 10 Mar 2021
AbstractforCongenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1 | Full Text | References | PDF (1.1 MB) | EPUB
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Case Reports

Case Report
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene
Sagnik Sen, Saraswathi Karuvel Kannan, Ulaganathan Shanmugam, Renu Rajan, Naresh Babu & Ayyasamy Vanniarajan
Pages: 300-303
Published online: 19 Jan 2021
AbstractforVariable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene | Full Text | References | PDF (3.8 MB) | EPUB
  • 170 Views
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Case Report
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation
Noriko Oishi, Daiki Kubota, Kenji Nakamoto, Yukito Takeda, Mika Hayashi, Kiyoko Gocho, Kunihiko Yamaki, Tsutomu Igarashi, Hiroshi Takahashi & Shuhei Kameya
Pages: 304-311
Published online: 05 Feb 2021
AbstractforMultimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation | Full Text | References | PDF (8.8 MB) | EPUB | Supplemental
  • 1857 Views
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Open Access
Case Report
Multimodal imaging of an RPGR carrier female
David A. Kilgore, Tyler A. Kilgore, Suporn Sukpraprut-Braaten, Gerald B. Schaefer & Sami H. Uwaydat
Pages: 312-316
Published online: 23 Feb 2021
AbstractforMultimodal imaging of an RPGR carrier female | Full Text | References | PDF (3.5 MB) | EPUB
  • 183 Views
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Case Report
Development of neovascular glaucoma after intraocular surgery in Pierson syndrome
Moustafa S. Magliyah & Sulaiman M. Alsulaiman
Pages: 317-319
Published online: 08 Feb 2021
AbstractforDevelopment of neovascular glaucoma after intraocular surgery in Pierson syndrome | Full Text | References | PDF (2.8 MB) | EPUB
  • 167 Views
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Case Report
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism
Malena Daich Varela, Robert B. Hufnagel, Bin Guan, Delphine Blain, Julie C. Sapp, Andrea L. Gropman, Ramakrishna Alur, Jennifer J. Johnston, Leslie G. Biesecker & Brian P. Brooks
Pages: 320-325
Published online: 15 Mar 2021
AbstractforClinical diagnosis of presumed SOX2 gonadosomatic mosaicism | Full Text | References | PDF (2.3 MB) | EPUB
  • 1284 Views
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Open Access
Case Report
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome
Gökhan Çelik, Bilge Batu Oto, Osman Kızılay, Oğuzhan Kılıçarslan & Handan Hakyemez Toptan
Pages: 326-328
Published online: 18 Feb 2021
AbstractforAn unusual ophthalmic presentation of Wolf-Hirschhorn syndrome | Full Text | References | PDF (2.1 MB) | EPUB
  • 207 Views
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Case Report
Retinal dystrophy as part of TTC21B-associated ciliopathy
Tamar Ben-Yosef, Nurit Asia Batsir, Tahleel Ali Nasser & Miriam Ehrenberg
Pages: 329-333
Published online: 18 Feb 2021
AbstractforRetinal dystrophy as part of TTC21B-associated ciliopathy | Full Text | References | PDF (2.5 MB) | EPUB | Supplemental
  • 235 Views
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Case Report
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3
Frances Wu, Paula C. Goldenberg & Shizuo Mukai
Pages: 334-337
Published online: 23 Feb 2021
AbstractforBilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3 | Full Text | References | PDF (2.1 MB) | EPUB
  • 87 Views
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Case Report
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome
Nicholas H. Fowler, May I. El-Rashedy, Emad A. Chishti, Craig W. Vander Kooi & Ramiro S. Maldonado
Pages: 338-343
Published online: 25 Feb 2021
AbstractforMultimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome | Full Text | References | PDF (7.8 MB) | EPUB
  • 209 Views
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Case Report
Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report
Subhi Talal Younes, James Mason Shiflett, Kristin Weaver, Andrew Smith, Betty Herrington, Charlotte Taylor & Kartik Reddy
Pages: 344-348
Published online: 01 Mar 2021
AbstractforNorrie disease with a spontaneously shrinking choroid plexus abnormality: a case report | Full Text | References | PDF (2 MB) | EPUB
  • 81 Views
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Case Report
A homozygous POC1B variant causes recessive cone-rod dystrophy
Ann-Marie C. Peturson, Nicole C. L. Noel & Ian M. MacDonald
Pages: 349-353
Published online: 04 Mar 2021
AbstractforA homozygous POC1B variant causes recessive cone-rod dystrophy | Full Text | References | PDF (3.5 MB) | EPUB
  • 172 Views
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Case Report
Secondary enucleated retinoblastoma with MYCN amplification
Alexandre P. Moulin, Christina Stathopoulos, Fabienne Marcelli, Jacqueline Schoumans Pouw, Maja Beck-Popovic & Francis L. Munier
Pages: 354-359
Published online: 19 Apr 2021
AbstractforSecondary enucleated retinoblastoma with MYCN amplification | Full Text | References | PDF (7.4 MB) | EPUB
  • 223 Views
  • 1 CrossRef citations
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Case Report
Keratoconus in a child with partial trisomy 13
Julia Ernst, Amgad Eldib, Hannah L. Scanga & Ken K. Nischal
Pages: 360-363
Published online: 16 Apr 2021
AbstractforKeratoconus in a child with partial trisomy 13 | Full Text | References | PDF (2.1 MB) | EPUB
  • 108 Views
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