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Article

Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11.

American journal of ophthalmology - 1 Mar 2022

Yang Junxing, Xiao Xueshan, Li Shiqiang, Mai Guiying, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Zhang Qingjiong

Abstract excerpt

PURPOSE: To characterize ocular phenotypes in patients with CTNNB1, KIF11, or NDP variants. DESIGN: Retrospective case series. METHODS: Seventy-four patients from 59 unrelated families with CTNNB1, KIF11, and NDP variants were enrolled based on exome sequencing. The clinical data of ophthalmoscope, fundus photography, fluorescein angiography, and ocular ultrasound scan were evaluated. RESULTS: A total of 55...

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PMID: 34582765
DOI: 10.1016/j.ajo.2021.09.017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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