TY - JOUR T1 - Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome JO - Archivos de la Sociedad Española de Oftalmología (English Edition) T2 - AU - Garza-Leon,M. AU - León-Cachón,R.B.R. AU - Villafuerte-de la Cruz,R. AU - Martínez-Treviño,D.A. SN - 21735794 M3 - 10.1016/j.oftale.2018.06.013 DO - 10.1016/j.oftale.2018.06.013 UR - https://www.elsevier.es/en-revista-archivos-sociedad-espanola-oftalmologia-english-496-articulo-infrared-meibography-molecular-assessment-p63-S2173579418301300 AB - ObjectiveTo 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 caseA 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. DiscussionThe R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands. ER -