Identifying patterns of refractive error in inherited retinal diseases may improve management and knowledge of genetic associations with refractive error.
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A family history of retinitis pigmentosa significantly increased the odds of presenting with severe disease, particularly for patients with affected siblings.
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Low-vision-specific function and activities of daily living measures are useful for assessing patient-reported outcomes in patients with retinitis pigmentosa.
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Researchers have increased the number of patients with ARSG-Usher syndrome type IV to 31 cases and...
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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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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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A large study that included patients and controls showed that rare variant association tests apply to multiple inherited retinal diseases.
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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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An automated optical coherence tomography algorithm showed the potential of using AI-assisted image processing in inherited retinal disease diagnostics.
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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 high phenotypic variability in disease onset, legal blindness in PRPF-31-linked RP patients.
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Study in Usher syndrome due to MYO7A Mutations has implications for gene therapy.
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