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Downes Susan M

6 articles in GJC

6 articles in GJC

4.

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Kuehlewein Laura, Zobor Ditta, Andreasson Sten Olof, Ayuso Carmen, Banfi Sandro, Bocquet Beatrice et al.

JAMA OphthalmolDec 202016 citationsObservational Study

This study characterized PDE6A-associated retinitis pigmentosa, finding symmetrical, often mild-to-moderate visual impairment. This suggests a valuable "window of opportunity" for future gene therapy in affected patients.

5.

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.

Charbel Issa Peter, Gliem Martin, Yusuf Imran H, Birtel Johannes, Müller Philipp L, Mangold Elisabeth et al.

Invest Ophthalmol Vis SciAug 201920 citationsCase Series

This study found the CDHR1 c.783G>A variant causes a specific macular dystrophy resembling central areolar choroidal dystrophy. This "silent" mutation leads to exon skipping, highlighting its importance in diagnosing macular degeneration.

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