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Article

Classical familial homocystinuria in an adult presenting as an isolated lens subluxation.

International ophthalmology - 1 Jun 2011

Martínez-Gutiérrez Juan D, Mencía-Gutiérrez Enrique, Gracia-García-Miguel Teresa, Gutiérrez-Díaz Esperanza, López-Tizón Elena

Abstract excerpt

To report a case of late diagnosis of a classical familial homocystinuria based on an ophthalmologic examination. A 35-year-old male with Marfan-like phenotype complained of a progressive increase of myopia during the previous 2 years. Ophthalmologic exploration showed a bilateral subluxation of the lens with inferior and nasal displacement. Biochemical study detected a profile of increased amino acid levels...

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Source

Identifiers

PMID: 21626167
DOI: 10.1007/s10792-011-9444-x

Genes

CBS
MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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