Ophthalmic Genetics, Volume 44, Issue 2 (2023)

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Ophthalmic Genetics, Volume 44, Issue 2 (2023)

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Review

Review
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review
Brian Juin Hsien Lee, Yih-Chung Tham, Tien-En Tan, Yasmin Bylstra, Weng Khong Lim, Kanika Jain, Choi Mun Chan, Ranjana Mathur, Chui Ming Gemmy Cheung & Beau J. Fenner
Pages: 109-118
Published online: 01 Mar 2023
AbstractforCharacterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review | Full Text | References | PDF (2.2 MB) | EPUB | Supplemental
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Research Report

Report
Retinoblastoma and uveal melanoma in Jordan: incidence, demographics, and survival (2011-2020)
Yacoub A. Yousef, Mona Mohammad, Ibrahim Al-Nawaiseh, Hala Mahafza, Hadeel Halalsheh, Mustafa Mehyar, Reem AlJabari, Khaleel Al-Rawashdeh, Imad Jaradat, Iyad Sultan & Maysa Al-Hussaini
Pages: 119-126
Published online: 17 Jul 2022
AbstractforRetinoblastoma and uveal melanoma in Jordan: incidence, demographics, and survival (2011-2020) | Full Text | References | PDF (413.7 KB) | EPUB
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Report
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract
Zhennan Zhao, Jiahui Chen, Wenyi Yuan, Yongxiang Jiang & Yi Lu
Pages: 127-132
Published online: 15 Nov 2022
AbstractforAssociation between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract | Full Text | References | PDF (615.3 KB) | EPUB
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Report
Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing
Yunsheng Qiao, Tingting Shao, Yuhong Chen, Junyi Chen, Xinghuai Sun & Xueli Chen
Pages: 133-138
Published online: 03 Oct 2022
AbstractforScreening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing | Full Text | References | PDF (274 KB) | EPUB | Supplemental
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Report
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up
Kristian Lisbjerg, Mette Bertelsen, Julie Lyng Forman, Karen Grønskov, Josephine Prener Holtan & Line Kessel
Pages: 139-146
Published online: 26 Sep 2022
AbstractforDisease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up | Full Text | References | PDF (2.7 MB) | EPUB | Supplemental
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Report
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome
Elena Franco, Hannah L. Scanga, Soosan Jacob, Charleen T. Chu & Ken K. Nischal
Pages: 147-151
Published online: 07 Nov 2022
AbstractforCongenital corneal staphyloma in 8q21.11 microdeletion syndrome | Full Text | References | PDF (3.6 MB) | EPUB
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Report
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci & Giacomo M. Bacci
Pages: 152-162
Published online: 05 Dec 2022
AbstractforOptic nerve involvement in CACNA1F-related disease: observations from a multicentric case series | Full Text | References | PDF (7.8 MB) | EPUB
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Mutation Report

Report
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa
SeungHee Jung, Young Chan Park, DongHee Lee, SiYeon Kim, Sang-Mo Kim, YoungJin Kim, DongHyun Lee, JaeJoung Hyun, InSong Koh & Jong-Young Lee
Pages: 163-170
Published online: 31 Oct 2022
AbstractforExome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa | Full Text | References | PDF (4.3 MB) | EPUB
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Case Reports

Case Report
Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene
Rebecca Tanenbaum, Dhariana Acon, Sophia El Hamichi, Catherin Negron & Audina M Berrocal
Pages: 171-174
Published online: 12 Jun 2020
AbstractforUnrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene | Full Text | References | PDF (1 MB) | EPUB
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Case Report
Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature
Eleni K. Konstantinou, Noreen Shaikh & David J. Ramsey
Pages: 175-181
Published online: 06 Aug 2021
AbstractforBirt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature | Full Text | References | PDF (9.2 MB) | EPUB | Supplemental
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Case Report

Case Report
A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report
Emile R. Vieta-Ferrer, Ehsan Ullah, Delphine Blain, Julie A. Christensen, Carmen C. Brewer, James E. Balow, Aman George, Robert B. Hufnagel, Tiziana Cogliati & Brian P. Brooks
Pages: 182-185
Published online: 22 Feb 2023
AbstractforA novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report | Full Text | References | PDF (2.4 MB) | EPUB
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Open Access
Case Report
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy
Aaron Z. Priluck & Mark P. Breazzano
Pages: 186-190
Published online: 08 Jul 2022
AbstractforNovel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy | Full Text | References | PDF (1.7 MB) | EPUB
  • 218 Views
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Case Report
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease
Mariana Matioli da Palma, Cristy Ku, Austin D. Igelman, Amanda Burr, Liliya Shevchenko Sutherland, Celide Koerner, David Valle, Mark E. Pennesi & Paul Yang
Pages: 191-197
Published online: 20 Jul 2022
AbstractforA possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease | Full Text | References | PDF (3.3 MB) | EPUB
  • 216 Views
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Case Report
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome
Sandra Hoyek, Marlene Wang, Audina M. Berrocal, Ashley Wong, Emily M. Place, Heather Mason-Suares, Angela E. Lin, Shizuo Mukai & Nimesh A. Patel
Pages: 198-203
Published online: 14 Jul 2022
AbstractforCombined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome | Full Text | References | PDF (2.5 MB) | EPUB | Supplemental
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Letter to the Editor

Lack of evidence of association between ZNF408 variant and ROP
Amit V. Mishra & Johane M. Robitaille
Page: 204
Published online: 24 Jan 2021
CitationforLack of evidence of association between ZNF408 variant and ROP | Full Text | References | PDF (157.6 KB) | EPUB
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Novel variant of KIF11 associated with MCLMR syndrome
Ghaida Alahmadi, Abdulaziz A. Alshamrani & Amani Albakri
Pages: 205-207
Published online: 25 Aug 2022
First Page PreviewforNovel variant of KIF11 associated with MCLMR syndrome | Full Text | References | PDF (2.8 MB) | EPUB
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Case of IFT140-associated Mainzer Saldino Syndrome
Shivam H. Patel, Saaquib Bakhsh, Erin Conboy & Amir R. Hajrasouliha
Pages: 208-210
Published online: 05 Sep 2022
First Page PreviewforCase of IFT140-associated Mainzer Saldino Syndrome | Full Text | References | PDF (2.1 MB) | EPUB
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