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Author

Riccardo Sangermano

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Open access Oct 2026

Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.

Importance Inherited retinal diseases are genetically heterogeneous disorders, with retinitis pigmentosa (RP) representing the most common form; although more than 90 genes have been implicated, many RP cases remain molecularly unsolved. Objectives To describe an adult-onset RP phenotype associated with loss-of-funct...

Viviana Cordeddu, Riccardo Sangermano, S. Mulder et al. · 1 citation
Open access Oct 2026

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Variant-level functional assays expand the phenotypic spectrum of IDUA-associated disease to include late-onset retinal-predominant or apparently isolated retinitis pigmentosa and indicate that residual enzyme activity likely contributes to systemic sparing, highlighting the value of integrated genomic, biochemical, an...

Si-Ying Lin, Seok-Ho Yu, Andrew C. Browning et al. · 0 citations
Sep 2026

EYS-associated retinal degeneration in South Korea: Genetic, Phenotype, and Natural History.

PURPOSE To delineate the clinical and genetic spectrum of EYS-associated retinal degeneration (EYS-RD) and to quantify longitudinal progression of retinal structure and visual function. DESIGN, SETTING, AND PARTICIPANTS Multicenter retrospective cohort study at eight tertiary referral centers in South Korea, enrollin...

Jehwi Jeon, Dongheon Surl, H. Park et al. · 0 citations
Open access Sep 2026

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.

A. O'Donnell-Luria, Stephanie P. DiTroia, Melanie C. O'Leary et al. · 0 citations

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