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Research article

First published 2023-3

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders

Natalia Lorenzana-Blanco, Belen Jimenez-Rolando, Blanca Garcia-Sandoval [...]

European Journal of Ophthalmology

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Case report

First published 2021-5

Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up

Andrea Lembo, Giacomo Maria Bacci, Massimiliano Serafino [...]

European Journal of Ophthalmology

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Case report

First published 2022-11

Posterior Polar Hemispheric Choroidal Dystrophy: Case Report and Presentation of Genetic Screening

Tarek Tabbaa, Daniel Daroszewski, Warren Sobol

Journal of VitreoRetinal Diseases

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Case report

First published 2024-7

Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1

Yanchen Zhang, Zhixing Li, Bing Lin [...]

European Journal of Ophthalmology

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Research article

First published 2017-02

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses

Hema L. Ramkumar, Harini V. Gudiseva, Kameron T. Kishaba [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2023-7

Alström syndrome: Two clinical cases with two novel pathogenic variants

Juan C Herranz-Heras, Ana Barceló, Juan F Quesada-Espinosa [...]

European Journal of Ophthalmology

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Case report

First published 2026-1

Female Carrier of Ocular Albinism Linked to Gpr143 Gene

Erin Flynn, Isha Cheela, Talia R. Kaden

Journal of VitreoRetinal Diseases

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Case report

First published 2025-1

Expanding the mutational and phenotypical spectrum of FHONDA syndrome

Bruno Magalhães Teixeira, Inês Figueiredo, Miguel Raimundo [...]

European Journal of Ophthalmology

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Research article

First published 1996-4

Analysis of the Rhodopsin and Peripherin/Rds Gene in Two Families with Pattern Dystrophy of the Retinal Pigment Epithelium

S. Daniele, G. Restagno, C. Daniele [...]

European Journal of Ophthalmology

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Case report

First published 2022-11

Pleiotropy of a Stickler syndrome genotype

Ahmad Baiyasi, Joshua Barbosa, Anthony Parendo [...]

European Journal of Ophthalmology

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