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Open access

Review article

First published 2024-11

Inherited retinal dystrophies and orphan designations in the European Union

Jane Moseley, Tim Leest, Kristina Larsson [...]

European Journal of Ophthalmology

Open access

Case report

First published 2026

Complex Retinal Detachment in an Adult Patient With Familial Exudative Vitreoretinopathy: Challenges in Diagnosis and Management

Chioma Amuzie, Gelila Yohannes, Jason Fan [...]

Journal of VitreoRetinal Diseases

Retricted access

Review article

First published 2019-3

Gene Therapy for Inherited Retinal Degeneration

Amirmohsen Arbabi, Amelia Liu, Hossein Ameri

Journal of Ocular Pharmacology and Therapeutics

Open access

Review article

First published 2022

RNA-based therapies in inherited retinal diseases

Aniz Girach, Isabelle Audo, David G. Birch [...]

Therapeutic Advances in Ophthalmology

Retricted access

Case report

First published 2023-9

X-linked retinoschisis: OCT-angiography in two brothers from a four-generation family with a p.Arg197Cys pathogenic variant in the RS1 gene

Arturo Carta, Roberta Farci, Maria Silvana Galantuomo [...]

European Journal of Ophthalmology

Retricted access

Case report

First published 2026-1

Spontaneous retinal reattachment and novel vitreoretinal phenotype in muscle eye brain disease determined by fundus multimodal imaging

Evita Evangelia Christou, Ravi Purohit, Alice Di Domenico [...]

European Journal of Ophthalmology

Retricted access

Review article

First published 2021-11

N-of-1 Clinical Trials: A Scientific Approach to Personalized Medicine for Patients with Rare Retinal Diseases Such as Retinitis Pigmentosa

Marco A. Zarbin, Gary Novack

Journal of Ocular Pharmacology and Therapeutics

Retricted access

Case report

First published 2017-11

Retinal Findings of a Unique RTEL1 Mutation in Dyskeratosis Congenita

Benjamin G. Wajda, Alexander S. Platt, April D. Ingram [...]

Journal of VitreoRetinal Diseases

Retricted access

Case report

First published 2022-7

Chronic untreated retinal detachment in a patient with choroideremia provides insight into the disease process and potential therapy

Maria Pilar Martin-Gutierrez, Thomas MW Buckley, Robert E MacLaren

European Journal of Ophthalmology

Retricted access

Research article

First published 2018-02

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa

Shujin Li, Mu Yang, Wenjing Liu [...]

Genetic Testing and Molecular Biomarkers

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