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iPS Cells of Patients for Models of Retinal Dystrophies (RETIPS)

• Authors : Institut National de la Santé Et de la Recherche Médicale, France

• Source: iPS Cells of Patients for Models of Retinal Dystrophies

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Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

• Authors : Heutinck PAT; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Iglesias AI

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis

• Source: Scientific reports [Sci Rep] 2025 Jul 03; Vol. 15 (1), pp. 23745. Date of Electronic Publication: 2025 Jul 03.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs) (SS-HH-OCT)

• Source: Ultracompact Hand-Held Swept-Source Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal

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Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

• Authors : Rodilla C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Subjects: Whole Genome Sequencing*/Whole Genome Sequencing*/Whole Genome Sequencing*/methods ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis

• Source: International journal of molecular sciences [Int J Mol Sci] 2025 Apr 18; Vol. 26 (8). Date of Electronic Publication: 2025 Apr 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants (Uni-Rare)

• Authors : Foundation Fighting Blindness

• Source: Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic

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Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series

• Authors : Delaney, Adrienne; Branham, Kari E.; Jayasundera, K. Thiran

Subjects: Case Report

• Source: Case Rep Ophthalmol

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Decoding EYS-related Retinal Dystrophies: From Clinical Phenotype to Potential Therapeutic Strategies

• Authors : Isla Magrané, Helena;

Subjects: EYS; RP25; Retinitis Pigmentosa 25616.8

• Source: TDX (Tesis Doctorals en Xarxa)

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Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.

• Authors : Fan X; People's Hospital of Ningxia Hui Autonomous Region, The Third Clinical Medical College of Ningxia Medical University, Yinchuan, 750001, China.; Li Z

Subjects: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/pathology ; Genetic Association Studies*

• Source: Scientific reports [Sci Rep] 2025 Jan 24; Vol. 15 (1), pp. 3043. Date of Electronic Publication: 2025 Jan 24.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

• Authors : Heath Jeffery, Rachael; Thompson, Jennifer; Lo, Johnny

Subjects: Humans; Peripherins; Middle Aged

• Source: Investigative Ophthalmology & Visual Science. 65(5)

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Micropulsed Laser in Patients With Macular Oedema in Retinal Dystrophies

• Authors : lucia ziccardi, Principal Investigator

• Source: Treatment of Macular Oedema in Patients With Hereditary Retinal Dystrophies by Applying the Micropulsed Subthreshold Laser

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