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Article

Genetic Penetrance of Macular Telangiectasia Type 2.

JAMA ophthalmology - 1 Oct 2018

Ronquillo Cecinio C, Wegner Kimberley, Calvo Charles M, Bernstein Paul S

Abstract excerpt

Importance: The apparent genetic penetrance of macular telangiectasia type 2 (MacTel) is important for gene discovery studies and for clinical risk assessment of affected individuals' family members. Objective: To determine the genetic penetrance of MacTel. Design, Setting, and Participants: Descriptive cross-sectional study of patients with MacTel at a tertiary referral eye center. From 2008 to 2016, consecutive...

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Identifiers

PMID: 30098143
DOI: 10.1001/jamaophthalmol.2018.3283
PMCID: PMC6233841

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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