2026-10-14T08:37:35Z https://api.figshare.com/v2/oai

oai:figshare.com:article/34040539 2026-10-01T06:48:18Z category_7 category_13 category_14 category_15 category_45 category_734 category_106 portal_87 item_type_6 month_year_10_2026

Norrie disease with asymmetric retinal severity associated with novel <i>NDP</i> variants Yu Higashi (25153693) Tomoki Kinoshita (25153696) Itsuka Matsushita (2543560) Hiroyuki Kondo (2543557) Medicine Genetics Molecular Biology Neuroscience Sociology Biological Sciences not elsewhere classified Science Policy Norrie disease NDP retinal detachment retinal photocoagulation <p>Norrie disease (ND) is a severe X-linked retinal disorder caused by variants in the <i>NDP</i> gene and is typically characterized by bilateral total retinal detachment (RD) and blindness in infancy. We report three patients from two unrelated families with <i>NDP</i>-associated retinopathy carrying two <i>NDP</i> variants not previously reported in association with ND: c.365A>G, p.(Tyr122Cys), and c.134T>C, p.(Val45Ala).</p> <p>Clinical evaluations included fundus examination, fluorescein angiography, ultrasonography, auditory brainstem response testing, and genetic analysis.</p> <p>Case 1 [p.(Tyr122Cys)] demonstrated asymmetric retinal findings, with retinal dysplasia and avascular retina in one eye and total RD in the fellow eye; retinal photocoagulation was performed in the less severely affected eye. Case 2 [p.(Val45Ala)] showed bilateral total RD and blindness. Case 3, the younger brother of Case 2 with the same variant, exhibited severe fibroproliferative changes in one eye and a falciform retinal fold with peripheral avascular retina in the fellow eye; retinal photocoagulation was performed in the milder eye. The p.(Tyr122Cys) and p.(Val45Ala) variants were each classified as likely pathogenic according to ACMG/AMP criteria.</p> <p>These cases demonstrate considerable phenotypic variability within the spectrum of <i>NDP</i>-associated retinopathy and highlight the phenotypic overlap between ND and familial exudative vitreoretinopathy, expanding our understanding of genotype -phenotype correlations in <i>NDP</i>-associated retinal disease.</p> 2026-10-01T06:48:18Z Text Journal contribution 10.6084/m9.figshare.34040539.v1 https://figshare.com/articles/journal_contribution/Norrie_disease_with_asymmetric_retinal_severity_associated_with_novel_i_NDP_i_variants/34040539 CC BY 4.0