Inherited Retinal Disease

Usher Syndrome Type IV Genetic Landscape Expanded More Than 30%

Oct 25, 2024

Researchers have increased the number of patients with ARSG-Usher syndrome type IV to 31 cases and...

Retinitis Pigmentosa Phenotypes Impacted by Variants in CDH23

Oct 24, 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.

Limited Research on Hereditary Eye Disease in Black Patients

Oct 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.

Low-Vision-Specific Measures Useful in Assessing RP

Oct 22, 2024

Low-vision-specific function and activities of daily living measures are useful for assessing patient-reported outcomes in patients with retinitis pigmentosa.

Family History of RP Linked to Disease Severity at Diagnosis

Oct 22, 2024

A family history of retinitis pigmentosa significantly increased the odds of presenting with severe disease, particularly for patients with affected siblings.

Rare Variant Association Tests Improve Identification of IRD Genes

Oct 22, 2024

A large study that included patients and controls showed that rare variant association tests apply to multiple inherited retinal diseases.

Disease-Causing Variants Identified in Inherited Retinal Dystrophies

Sep 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.

AI-Enhanced OCT Analysis Helps Classify IRD Images

Sep 28, 2024

An automated optical coherence tomography algorithm showed the potential of using AI-assisted image processing in inherited retinal disease diagnostics.