OBJECTIVE: To describe the ocular phenotype in @entity1 with ectrodactyly-ectodermal @entity2419 (MIM#604292) and to determine the pathogenic basis of visual morbidity. DESIGN: Retrospective case series. @entity1 : Nineteen families (23 @entity1 ) affected by @entity20947 from the United Kingdom, Ireland, and Italy. METHODS: General medical examination to fulfill the diagnostic criteria for @entity20947 and determine the phenotypic severity. Mutational analysis of @entity4206 was performed by polymerase chain reaction-based bidirectional Sanger sequencing. All @entity1 with @entity20947 underwent a complete ophthalmic examination and ocular surface assessment. @entity1358 ( @entity1358 ) was diagnosed clinically on the basis of corneal conjunctivalization and anatomy of the limbal palisades of Vogt. Impression cytology using immunofluorescent antibodies was performed in 1 individual. Histologic and immunohistochemical analyses were performed on a @entity2687 from 2 EEC @entity1 . MAIN OUTCOME MEASURES: The @entity20947 phenotypic severity (EEC score), best-corrected Snellen visual acuity (decimal fraction), slit-lamp biomicroscopy, tear function index, tear breakup time, @entity1358 , @entity4206 DNA sequence variants, impression cytology, and corneal histopathology. RESULTS: Eleven heterozygous missense mutations in the DNA binding domain of @entity4206 were identified in all @entity1 with @entity20947 . All @entity1 had ocular involvement and the commonest was an @entity3002 . The major cause of visual morbidity was progressive @entity1358 , which was detected in 61% (14/23). @entity1358 was related to advancing age and caused a progressive @entity2372 , resulting in a dense vascularized corneal pannus, and eventually leading to @entity227 . Histologic analysis and impression cytology confirmed @entity1358 . CONCLUSIONS: Heterozygous @entity4206 mutations cause the @entity20947 and result in @entity227 owing to progressive @entity1358 . There was no relationship of limbal stem cell failure with the severity of @entity20947 , as classified by the EEC score, or the underlying molecular defect in @entity4206 . FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any of the materials discussed in this article.

@entity1358 and ocular phenotype in ectrodactyly-ectodermal @entity2419 caused by XXXX mutations.

@entity1 :: ('9606', 'Species') :: ['patients', 'PARTICIPANTS'] @entity227 :: ('MESH:D014786', 'Disease') :: ['visual impairment'] @entity2372 :: ('MESH:C562399', 'Disease') :: ['keratopathy'] @entity4206 :: ('8626', 'Gene') :: ['p63'] @entity3002 :: ('MESH:D009421', 'Disease') :: ['anomaly of the meibomian glands and lacrimal drainage system defects'] @entity1358 :: ('MESH:D002292', 'Disease') :: ['LSCD', 'Limbal stem cell deficiency'] @entity20947 :: ('MESH:C565062', 'Disease') :: ['EEC syndrome'] @entity2687 :: ('MESH:D003316', 'Disease') :: ['corneal button and corneal pannus'] @entity2419 :: ('MESH:D002972', 'Disease') :: ['dysplasia-clefting (EEC) syndrome']
@entity4206 :: (8626,Gene) :: ['p63']
