Usher Syndrome Type IV Genetic Landscape Expanded More Than 30%
Researchers have increased the number of patients with ARSG-Usher syndrome type IV to 31 cases and...
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Inherited Retinal Disease
Research on Hereditary Eye Disease in Black Patients Limited
More studies of hereditary eye diseases in Black patients are “a scientific imperative,” according to the authors of a literature review spanning 20 years.
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Variants in CDH23 Impact Retinitis Pigmentosa Phenotypes
Findings from patients with c.5237 G more than A: p.Arg1746Gln variants in CDH23 may improve genetic counseling and prognostication in some inherited retinal diseases.
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Rare Variant Association Tests Improve Identification of IRD Genes
A large study that included patients and controls showed that rare variant association tests apply to multiple inherited retinal diseases.
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AI-Enhanced OCT Analysis Helps Classify IRD Images
An automated optical coherence tomography algorithm showed the potential of using AI-assisted image processing in inherited retinal disease diagnostics.
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Disease-Causing Variants Identified in Inherited Retinal Dystrophies
A study of inherited retinal dystrophy subjects identified 14 novel ABCA4 variants of which 8 were determined to be disease-causing or likely disease-causing.
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Interdigitation & Ellipsoid Zones Linked to Better Visual Acuity in RP
The presence of both the interdigitation and ellipsoid zones is associated with better visual acuity in patients with retinitis pigmentosa.
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Study Confirms Phenotypic Variability in Onset, Legal Blindness in PRPF-31-linked RP
Study confirms high phenotypic variability in disease onset, legal blindness in PRPF-31-linked RP patients.
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Usher Syndrome Due to MYO7A Mutations Has Implications for Gene Therapy
Study in Usher syndrome due to MYO7A Mutations has implications for gene therapy.
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