[Ocular manifestations of pseudoxanthoma elasticum]. 2006

Bourane Kamoun, and Héla Khlif, and Madiha Mseddi, and Imène Sayadi, and Hamida Turki, and Abdelmagid Zahaf, and Jamel Feki
Service d'ophtalmologie, CHU Habib Bourguiba, Sfax, Tunisie.

BACKGROUND Pseudoxanthoma elasticum (PXE) is a hereditary disease characterized by skin, ocular, and cardiovascular lesions. Its prognosis depends mainly on the ocular and vascular lesions. METHODS This study included 11 patients with PXE. All patients had an ophthalmologic examination. RESULTS All patients had ocular lesions. Seven (63%) had angioid streaks and two, macular lesions. One patient had bilateral intrapapillary drusen (of the optic nerve head). CONCLUSIONS Ocular lesions in PXE had substantial diagnostic value. Ocular complications affect functional prognosis. These patients must undergo routine ophthalmologic examinations to look for ocular manifestations and their complications.

UI MeSH Term Description Entries
D008297 Male Males
D011561 Pseudoxanthoma Elasticum An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE. Gronblad-Strandberg Syndrome,Groenblad-Strandberg Syndrome,Pseudoxanthoma Elasticum, Autosomal Dominant,Pseudoxanthoma Elasticum, Forme Fruste,Pseudoxanthoma Elasticum, Incomplete,Elasticum, Incomplete Pseudoxanthoma,Elasticums, Incomplete Pseudoxanthoma,Gronblad Strandberg Syndrome,Incomplete Pseudoxanthoma Elasticum,Incomplete Pseudoxanthoma Elasticums,Pseudoxanthoma Elasticums, Incomplete,Syndrome, Gronblad-Strandberg
D005128 Eye Diseases Diseases affecting the eye. Eye Disorders,Eye Disease,Eye Disorder
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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