Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome

M. Garza-Leon, R. B.R. León-Cachón, R. Villafuerte-de la Cruz, D. A. Martínez-Treviño

Research output: Contribution to journalArticle

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Abstract

Objective: To report the finding of infrared meibography in a Mexican patient with EEC syndrome (Ectrodactyly–ectodermal dysplasia–cleft syndrome) confirmed by molecular analysis of the p63 gene. Clinical case: A 31 year-old male patient was seen due to a history of progressive visual loss in both eyes associated with long-term photophobia. The patient was born with cleft lip and palate, ectrodactyly of right hand, and afterwards, displayed nail dysplasia, anodontia and alopecia, with which ectodermal dysplasia was diagnosed. The ophthalmological findings were limited to the adnexa and the ocular surface. In vivo infrared meibography showed total absence of Meibomian glands in the lower eyelids and severe deficiency in the upper eyelids. In addition, it was shown that the patient was a heterozygous carrier of a missense mutation R304W (C → T) in exon 8 of the p63 gene. Discussion: The R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands.

Original languageEnglish
Pages (from-to)562-566
Number of pages5
JournalArchivos de la Sociedad Espanola de Oftalmologia
Volume93
Issue number11
DOIs
Publication statusPublished - 1 Nov 2018

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Meibomian Glands
Mutation
Eyelids
Genes
Anodontia
Ectodermal Dysplasia
Photophobia
Cleft Lip
Alopecia
Cleft Palate
Missense Mutation
Nails
Exons
Hand
Ectrodactyly-cleft lip-palate syndrome

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

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abstract = "Objective: To report the finding of infrared meibography in a Mexican patient with EEC syndrome (Ectrodactyly–ectodermal dysplasia–cleft syndrome) confirmed by molecular analysis of the p63 gene. Clinical case: A 31 year-old male patient was seen due to a history of progressive visual loss in both eyes associated with long-term photophobia. The patient was born with cleft lip and palate, ectrodactyly of right hand, and afterwards, displayed nail dysplasia, anodontia and alopecia, with which ectodermal dysplasia was diagnosed. The ophthalmological findings were limited to the adnexa and the ocular surface. In vivo infrared meibography showed total absence of Meibomian glands in the lower eyelids and severe deficiency in the upper eyelids. In addition, it was shown that the patient was a heterozygous carrier of a missense mutation R304W (C → T) in exon 8 of the p63 gene. Discussion: The R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands.",
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Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. / Garza-Leon, M.; León-Cachón, R. B.R.; Villafuerte-de la Cruz, R.; Martínez-Treviño, D. A.

In: Archivos de la Sociedad Espanola de Oftalmologia, Vol. 93, No. 11, 01.11.2018, p. 562-566.

Research output: Contribution to journalArticle

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