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Case Report

Case Report
Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A
Kirk A. J. Stephenson, Katherine E. Paton, Cheryl Y. Gregory-Evans & Kevin Gregory-Evans
Published online: 10 Jun 2024
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Research Article

Article
Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey
Steven Bonneau, Merve Kulbay, Shigufa Kahn-Ali & Cynthia X. Qian
Published online: 07 Jun 2024
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Case report

Case Report
Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing
Lauren Hucko, Natasha F.S. da Cruz, Patrick Staropoli & Audina M. Berrocal
Published online: 05 Jun 2024
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Research Article

Article
Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists
Fulya Yaylacioglu Tuncay, Eda Karaismailoglu & Şengül Özdek
Published online: 04 Jun 2024
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Case Report

Case Report
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature
Aashish Batheja, Julie Bayer-Vile, Evan Silverstein & Natario Couser
Published online: 04 Jun 2024
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Case report

Case Report
Biallelic occult macular dystrophy
Noor Ghali & Arif O Khan
Published online: 04 Jun 2024
  • 10 Views
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Letter to the editor

Letter to the Editor
Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis
Rola Ba-Abbad
Published online: 20 May 2024
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CASE REPORT

Case Report
GAPO syndrome: a novel variant in ANTXR1 gene
Manikanta Damagatla, Anshuman Verma, Venkatesh Pochaboina, Manju Bhate & Sirisha Senthil
Published online: 01 May 2024
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Research Report

Article
Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder
Jessica S. Karuntu, Femke C. C. Klouwer, Marc Engelen & Camiel J. F. Boon
Published online: 25 Apr 2024
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Open Access

Research Article

Article
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria
Aran Koye, Mattias Nilsson, David Epstein, Mikael Oscarson & Kristina Teär Fahnehjelm
Published online: 17 Apr 2024
  • 222 Views
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Open Access

Research Report

Article
Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study
Ayna Sariyeva Ismayilov & Okan Akaci
Published online: 15 Apr 2024
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Case Report

Case Report
PRPS1-associated retinopathy: a diagnostic odyssey
Tariq A. Alzahem, Abdulwahab AlTheeb & Rola Ba-Abbad
Published online: 15 Apr 2024
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REVIEW

Review Article
Consolidating data on the association of IL-6 and IL-10 polymorphisms with the development of glaucoma: a meta-analysis
Ahmadreza Golshan-Tafti, Mohammad Bahrami, Reyhaneh Mohsenzadeh-Yazdi, Seyed Alireza Dastgheib, Maryam Aghasipour, Amirmasoud Shiri, Kamran Alijanpour, Fatemeh Asadian, Kazem Aghili, Mohammad Manzourolhojeh & Hossein Neamatzadeh
Published online: 11 Apr 2024
  • 43 Views
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Case Report

Case Report
Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases
Elisa Marziali, Samuela Landini, Erika Fiorentini, Camilla Rocca, Lucia Tiberi, Rosangela Artuso, Laila Zaroili, Elia Dirupo, Pina Fortunato, Sara Bargiacchi, Roberto Caputo & Giacomo Maria Bacci
Published online: 08 Apr 2024
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Research Report

Article
Variant in EZR leads to defects in lens development
Nan Zhou, Mingyan He, Guangkai Zhou, Qiuyang Fan & Yanhua Qi
Published online: 02 Apr 2024
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Case Report

Case Report
Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients
Rebeca A. S. Amaral, Olivia A. Zin, Remo T. Moraes, Fernanda B. O. Porto, Pedro C. Carricondo, Sergio L. G. Pimentel, Bernardo P. Kestelman, Sung E. S. Watanabe & Juliana M. F. Sallum
Published online: 01 Apr 2024
  • 32 Views
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Case Report

Case Report
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma
Banu Bozkurt, Ozkan Bağcı, Sema Üzüm & Tülin Çora
Published online: 01 Apr 2024
  • 55 Views
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Research Report

Article
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy
Danjie Jiang, Shujuan Lin, Qinghai Gong, Jia Hong, Jinghui Wang, Hua Gao, Yanbo Guo, Feng Tong & Yan Zhang
Published online: 26 Mar 2024
  • 54 Views
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Research Article

Article
Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS
Efe Sezgin, Michael F. Schneider, Peter W. Hunt, Gabriele Beck-Engeser, Gabriele C. Ambayac & Douglas A. Jabs
Published online: 25 Mar 2024
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Case Report

Case Report
Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome
Diego Ruiz-Chavolla, Tania Barragán-Arévalo, Daniel Cortes-Muñoz, Jhoana Sánchez-Ruiz, Juan Carlos Zenteno & Gerardo Ledesma-Gil
Published online: 25 Mar 2024
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Research Article

Article
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population
Leila Alidoust, Alireza Sharafshah & Parvaneh Keshavarz
Published online: 21 Mar 2024
  • 54 Views
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Research Article

Article
Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis
Orkun Muhsinoglu, Ibrahim Akalin, Remzi Karadag, Sarenur Yilmaz, Huseyin Bayramlar & James D. Nicholson
Published online: 14 Mar 2024
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Case Report

Case Report
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele
Thales A. C. de Guimaraes, Francesco Lai, Raffaella Colombatti, Giovanni Sato, Roberta Rizzo, Angelos Kalitzeos & Michel Michaelides
Published online: 08 Mar 2024
  • 225 Views
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Open Access

Case Report

Case Report
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes
Alexandra Ruiz Guijosa, Laura Fernández Morales, José María Martínez de la Casa, Julio Escribano & Julián García Feijoo
Published online: 07 Mar 2024
  • 33 Views
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Case Report

Case Report
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy
Tugche S. Chen, Narin Sheri, David S. Ehmann & Matthew D. Benson
Published online: 29 Feb 2024
  • 105 Views
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Report

Report
Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type
Paul RJ Ames, Alessia Arcaro, Giovanna D’Andrea, Vincenzo Marottoli, Luigi Iannaccone, Maurizio Maraglione & Fabrizio Gentile
Published online: 23 Feb 2024
  • 39 Views
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Obituary

Obituary
William Gregory (Bill) Pearce MD, FRCS(C)
Ian MacDonald
Published online: 14 Feb 2024
  • 106 Views
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Free Access

Report

Report
RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India
Deepika C. Parameswarappa, Deepak Kumar Bagga, Abhishek Upadhyaya, Jeyapoorani Balasubramanian, Venkatesh Pochaboina, Vani Muthineni, Subhadra Jalali & Chitra Kannabiran
Published online: 07 Feb 2024
  • 94 Views
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Case Report

Case Report
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report
Kirstine Bolette Boysen, Zeynep Tümer, Daniella Bach-Holm, Anne-Marie Bisgaard & Line Kessel
Published online: 01 Feb 2024
  • 100 Views
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Case Report

Case Report
Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient
Shifali Gupta, Anu Kumari, Roshan Daniel, Sonam Yangzes, Priyanka Srivastava & Anupriya Kaur
Published online: 30 Jan 2024
  • 36 Views
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Case Report

Case Report
RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy
Priya R. Gupta, Kaitlin O’Connell, Jack M. Sullivan & Rachel M. Huckfeldt
Published online: 15 Jan 2024
  • 86 Views
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Case Report

Case Report
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females
Sekita Dalsgård Petersen, Mohamed Belmouhand, Jens Michael Hertz, Christina Fagerberg, Charlotte Brasch-Andersen, Jakob Grauslund, Francis L. Munier & Michael Larsen
Published online: 10 Jan 2024
  • 86 Views
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Case report

Case Report
Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants
Rita Rodrigues, Rita Quental, Renato Santos Silva, Lídia Costa & Sérgio Estrela-Silva
Published online: 14 Dec 2023
  • 77 Views
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Case report

Case Report
Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and KRAS mutation: a current review and novel case report
Lauren B. Yeager, Daniel S. Casper MD, PhD, Armando Del Portillo & Brian P. Marr
Published online: 14 Dec 2023
  • 79 Views
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Case report

Case Report
Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease
Lawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, F. Sessions Cole, Russell Huang, Kathleen Sisco, Hantamalala Ranay Ranaivo, Marwan Shinawi, Patricia Dickson, Ali Mian, Margaret Reynolds & Undiagnosed Diseases Network
Published online: 14 Dec 2023
  • 101 Views
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Case report

Case Report
Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome
Chunli Chen, Sitong Guo, Zhiqin Huang, Tao Fu, Libin Jiang & Fred Kuanfu Chen
Published online: 12 Dec 2023
  • 53 Views
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Case report

Case Report
Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosa
Leslie Huang, Elizabeth Kellom & Kimberly Stepien
Published online: 11 Dec 2023
  • 309 Views
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Open Access

Case report

Case Report
Mutations in AGBL5 associated with Retinitis pigmentosa
Diego I. Paredes, Nicholas R. Bello, Jenina E. Capasso, Rebecca Procopio & Alex V. Levin
Published online: 11 Dec 2023
  • 80 Views
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Case report

Case Report
Band-shaped keratopathy in HNF4A-related Fanconi syndrome: a case report and review of the literature
Anshuman Verma, Dilip Kumar Mishra, Deepak P. Edward & Muralidhar Ramappa
Published online: 24 Nov 2023
  • 51 Views
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Case report

Case Report
An overview of RB1 transcript alterations detected during retinoblastoma genetic screening
Elizabeth A. Price, Mandeep S. Sagoo, M. Ashwin Reddy & Zerrin Onadim
Published online: 06 Nov 2023
  • 87 Views
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