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.
Read MoreSep 29, 2024
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.
Read MoreSep 28, 2024
An automated optical coherence tomography algorithm showed the potential of using AI-assisted image processing in inherited retinal disease diagnostics.
Read MoreSep 27, 2024
Researchers have increased the number of patients with ARSG-Usher syndrome type IV to 31 cases and...
Read MoreSep 23, 2024
More studies of hereditary eye diseases in Black patients are “a scientific imperative,” according to the authors of a literature review spanning 20 years.
Read MoreSep 23, 2024
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.
Read MoreSep 20, 2024
A large study that included patients and controls showed that rare variant association tests apply to multiple inherited retinal diseases.
Read MoreAug 27, 2024
The presence of both the interdigitation and ellipsoid zones is associated with better visual acuity in patients with retinitis pigmentosa.
Read MoreAug 24, 2024
Study confirms high phenotypic variability in disease onset, legal blindness in PRPF-31-linked RP patients.
Read MoreAug 23, 2024
Study in Usher syndrome due to MYO7A Mutations has implications for gene therapy.
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