Ophthalmic Genetics, Volume 45, Issue 1 (2024)

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Ophthalmic Genetics, Volume 45, Issue 1 (2024)

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Volume 45, 2024 Vol 44, 2023 Vol 43, 2022 Vol 42, 2021 Vol 41, 2020 Vol 40, 2019 Vol 39, 2018 Vol 38, 2017 Vol 37, 2016 Vol 36, 2015 Vol 35, 2014 Vol 34, 2013 Vol 33, 2012 Vol 32, 2011 Vol 31, 2010 Vol 30, 2009 Vol 29, 2008 Vol 28, 2007 Vol 27, 2006 Vol 26, 2005 Vol 25, 2004 Vol 24, 2003 Vol 23, 2002 Vol 22, 2001 Vol 21, 2000 Vol 20, 1999 Vol 19, 1998 Vol 18, 1997 Vol 17, 1996 Vol 16, 1995 Vol 15, 1994 Vol 14, 1993 Vol 13, 1992 Vol 12, 1991 Vol 11, 1990 Vol 10, 1989 Vol 9, 1988 Vol 8, 1987 Vol 7, 1986 Vol 6, 1985 Vol 5, 1985 Vol 4, 1984 Vol 3, 1983 Vol 2, 1983 Vol 1, 1981-1982
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Research Article

Article
Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia
Jennifer G. Aparicio, Hanno Hopp, Narine Harutyunyan, Carly Stewart, David Cobrinik & Mark Borchert
Pages: 1-15
Published online: 26 Jan 2024
AbstractforAberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia | Full Text | References | PDF (7.3 MB) | EPUB | Supplemental
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Article
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome
Keri Mc Lean, Stefano Bignotti, Michele Callea, Francisco Cammarata-Scalisi, Bernhard Steger, David Armstrong, Maeve Lagan, Janet Sinton, Francesco Semeraro, Stephen B. Kaye, Vito Romano & Colin E. Willoughby
Pages: 16-22
Published online: 26 Jan 2024
AbstractforOcular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome | Full Text | References | PDF (2.3 MB) | EPUB
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Article
Association of GNB3, ACE polymorphisms with POAG and NTG
Alexander N. Samoylov, Polina Tumanova, Sofya A. Pankratova, Liana Sh. Ashryatova & Denis Plotnikov
Pages: 23-27
Published online: 26 Jan 2024
AbstractforAssociation of GNB3, ACE polymorphisms with POAG and NTG | Full Text | References | PDF (361.3 KB) | EPUB
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Article
Association of TAS2R16 gene (rs860170, rs978739, rs1357949) polymorphisms and TAS2R16 serum levels in patients with age-related macular degeneration
Ieva Inokaityte, Greta Gedvilaite & Rasa Liutkeviciene
Pages: 28-37
Published online: 26 Jan 2024
AbstractforAssociation of TAS2R16 gene (rs860170, rs978739, rs1357949) polymorphisms and TAS2R16 serum levels in patients with age-related macular degeneration | Full Text | References | PDF (567.1 KB) | EPUB | Supplemental
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Case Report

Case Report
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1
Pankaja Dhoble, Anthony G. Robson, Andrew R. Webster & Michel Michaelides
Pages: 38-43
Published online: 13 Mar 2023
AbstractforTypical best vitelliform dystrophy secondary to biallelic variants in BEST1 | Full Text | References | PDF (3 MB) | EPUB
  • 182 Views
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Case Report
Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging
Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Andrea Saladino, Emanuela Aragona, Francesco Bandello & Maurizio Battaglia Parodi
Pages: 44-50
Published online: 11 Apr 2023
AbstractforNon-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging | Full Text | References | PDF (8.4 MB) | EPUB
  • 1679 Views
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Open Access
Case Report
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome – A case report and review of literature
Eva Jin, Hong Le, Ann Jewell & Natario L. Couser
Pages: 51-58
Published online: 05 Apr 2023
AbstractforGenotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome – A case report and review of literature | Full Text | References | PDF (1.9 MB) | EPUB
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Case Report
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report
Muhannad Alkhalifah, Hani AlMezaine & Basamat AlMoallem
Pages: 59-62
Published online: 05 Apr 2023
AbstractforIdentification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report | Full Text | References | PDF (1.7 MB) | EPUB
  • 85 Views
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Case Report
Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant
Shaden H. Yassin, Fritz Gerald P. Kalaw, Alexa Li, Emily Fletcher & Shyamanga Borooah
Pages: 63-71
Published online: 09 May 2023
AbstractforSyndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant | Full Text | References | PDF (5 MB) | EPUB | Supplemental
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Case Report
Phenotypic and genotypic features of POC1B-associated cone dystrophy
Tariq A. Alzahem, Abdulwahab AlTheeb & Rola Ba-Abbad
Pages: 72-77
Published online: 29 May 2023
AbstractforPhenotypic and genotypic features of POC1B-associated cone dystrophy | Full Text | References | PDF (5.3 MB) | EPUB
  • 118 Views
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Case Report
Congenital simple hamartoma of the retinal pigment epithelium: 4 cases with multimodal imaging
Masood Naseripour, Sara Hemmati, Seyyed Saeed Aghili, Arzhang Gordiz, Shayesteh Enayatollahi, Masomeh Daem & Fatemeh Abdi
Pages: 78-83
Published online: 03 May 2023
AbstractforCongenital simple hamartoma of the retinal pigment epithelium: 4 cases with multimodal imaging | Full Text | References | PDF (7.5 MB) | EPUB
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Case Report
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3
Syrine Hizem, Rym Maamouri, Anissa Zaouak, Imen Rejeb, Sana Karoui, Molka Sebai, Houweyda Jilani, Yasmina Elaribi, Sami Fenniche, Monia Cheour, Frédéric Bilan & Lamia Ben Jemaa
Pages: 84-94
Published online: 09 May 2023
AbstractforAbsent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3 | Full Text | References | PDF (7.4 MB) | EPUB
  • 155 Views
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Case Report
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1
Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, Håkan Thonberg, Laurence Querat, Ulrika Birkeldh, Ann Nordgren & Anna Lindstrand
Pages: 95-102
Published online: 29 May 2023
AbstractforReduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1 | Full Text | References | PDF (5.3 MB) | EPUB | Supplemental
  • 1120 Views
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Open Access
Case Report
A case report of retinal dystrophy in patients with PACS1 syndrome
Jaime E Brown, Breanna Aldred, Tyler Boulter, Rachel Sullivan, James Ver Hoeve, Bikash R Pattnaik & Melanie Schmitt
Pages: 103-107
Published online: 23 May 2023
AbstractforA case report of retinal dystrophy in patients with PACS1 syndrome | Full Text | References | PDF (339.4 KB) | EPUB
  • 126 Views
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Case Report
Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene
Amit V. Mishra, Rosanna Martens & Ian M. MacDonald
Pages: 108-111
Published online: 31 May 2023
AbstractforPseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene | Full Text | References | PDF (2.3 MB) | EPUB
  • 129 Views
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