Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLC - PubMed

6 hours ago

Study focuses on genotype-phenotype correlations in neuronal intranuclear inclusion disease (NIID)-related retinopathy with CGG repeat expansions in NOTCH2NLC.
13 patients (62-81 years) from 12 families with late-onset NIID were examined for ocular and cognitive symptoms.
All patients had expanded CGG repeats (100-177 units) in NOTCH2NLC, with 11 showing ocular symptoms before cognitive decline.
Fundus autofluorescence (FAF) decrease and ellipsoid zone (EZ) absence in the peripapillary area were observed in all cases.
Electroretinography (ERGs) indicated rod-cone dysfunction, with significant correlations between CGG repeat numbers and ERG amplitudes.
The number of CGG repeats correlated strongly with the severity of retinal dysfunction, suggesting it as a biomarker for disease severity.
Expanded CGG repeats in NOTCH2NLC lead to earlier ocular symptoms than previously reported.

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