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1-7 of 7 results for rod-cone dystrophies (retinitis pigmentosa) < RETINA

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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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Case report

First published 2021-5

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 ( RLBP1 ) gene causes retinitis punctata albescens

Sónia Torres-Costa, Carla Sofia Ferreira, Ana Grangeia [...]

European Journal of Ophthalmology

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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

Open access

Research article

First published 2024-7

Achromatopsia: Long term visual performance and clinical characteristics

Yuval Margherita Eshel, Ora Abaev, Claudia Yahalom

European Journal of Ophthalmology

Free access

Research article

First published 2022-3

An inherited night blindness in Wiltshire sheep

Hayley Hunt, Keren E. Dittmer, Dorian J. Garrick [...]

Veterinary Pathology

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Research article

First published 2022-9

Utility of No-Charge Panel Genetic Testing for Inherited Retinal Diseases in a Real-World Clinical Setting

Cynthia K. McClard, Dimitrios Pollalis, Farzad Jamshidi [...]

Journal of VitreoRetinal Diseases

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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