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Ophtalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation.

Archivos de la Sociedad Espanola de Oftalmologia - 1 Apr 2024

Calleja Casado F, Ortega Prades G, Lanuza García A, Duch Samper A

Abstract excerpt

Lymphedema distichiasis syndrome is one of the most frequent phenotypes of primary lymphedema, even so, its prevalence is still low. This syndrome courses with the appearance of abnormal eyelashes and distichiasis during childhood or puberty. This can cause a notable discomfort on our patients, especially at such an early age. The clinic evaluation of this signs must make us have in mind this group of syndromes,...

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PMID: 38309663
DOI: 10.1016/j.oftale.2024.01.012

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Literature watch. FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.Semantic proximity Read ↗

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