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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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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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High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.

• Authors : Lin YW; Department of Medical Education, National Taiwan University Hospital, Taipei, Taiwan.; Huang YS

Subjects: Exons*/Exons*/Exons*/genetics ; Extracellular Matrix Proteins*/Extracellular Matrix Proteins*/Extracellular Matrix Proteins*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 15; Vol. 19 (1), pp. 238. Date of Electronic Publication: 2024 Jun 15.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies.

• Authors : Chan J; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom.; Holdstock J

Subjects: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis; Humans

• Source: PloS one [PLoS One] 2024 Jun 13; Vol. 19 (6), pp. e0305422. Date of Electronic Publication: 2024 Jun 13 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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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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PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

• Authors : Fernández-Caballero L; 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: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics; Humans

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Prospective Analysis of 'Genotype-phenotype' Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD (GEPHIRD)

• Source: Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies -

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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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Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

• Authors : Rocio A. Villafuerte-de la Cruz; Lucas A. Garza-Garza; Manuel Garza-Leon

Subjects: Retinal dystrophies; Inherited retinopathy; Pathogenic variant

• Source: BMC Ophthalmology, Vol 24, Iss 1, Pp 1-14 (2024)

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Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65 -Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.

• Authors : Kiraly P; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.; Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford OX3 9DU, UK.

Subjects: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/therapy ; Glaucoma*

• Source: Biomolecules [Biomolecules] 2023 Oct 05; Vol. 13 (10). Date of Electronic Publication: 2023 Oct 05.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X

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