Augenbeteiligung bei ektodermaler Dysplasie

Abstract

The authors describe the ophthalmological findings and clinical course in two patients with EEC syndrome and one patient with anhydrotic ectodermal dysplasia. A retinal complication was seen in a 43-year-old patient which seems to be associated with the EEC syndrome and has not yet been described. A review of the literature indicates the frequency of ocular findings. So far, primary ocular changes in anhydrotic ectodermal dysplasia have never been observed. The older the patient, the more severe the secondary complications affecting the lids and cornea can be; the eye may even be lost.

Ocular symptoms and signs in patients with ectodermal dysplasia syndromes

“…He showed that histologically the meibomian glands were completely absent. The biomicroscopic absence of meibomian orifices was also reported by Koniszewski [4], but not confirmed by histologic series. In their literature review, the same authors found that 14 of 131 reported EEC patients had alterations of the meibomian orifices.…”

“…With respect to the ectodermal disorder this seemed likely. It would also give an explanation for the keratopathy that was observed in patients with HED by Wilson [7] and Koniszewski [4].…”

“…The ocular anomalies are less frequently observed [4]. Disorders of the tear film and deformities of the meibomian glands are described for the EEC syndrome [5].…”

Argon laser surgery of mucous membranes papillomatosis in EEC syndrome and Goltz syndrome

“…Although its acronym suggests only ectrodactyly, ectodermal dysplasia and clefting of the lip and palate, numerous other abnormalities associated with this rare autosomal dominant entity are extensive. Ocular involvement in the EEC syndrome includes nasolacrimal anomalies, progressive keratopathy, blepharitis, chronic dacryocystitis, dystrophic keratitis, corneal scarring and neovascularization, absence of meibomian glands, photophobia, epiphora as well as retinal complication [20,22,30,31,39]. Conductive hearing loss associated with the EEC syndrome was reported in 13% of the patients [23,36] and mental retardation in 8% [23].…”

Einsatz eines lipidhaltigen Tränenersatzmittels bei Patienten mit ektodermaler Dysplasie

“…Demgegenuber treten die Augenveranderungen in den Hintergrund [9]. In der bisher vorliegenden Literatur wurden bei Patienten mit EEC-Syndrom Veranderungen des Tranenfilms and Anomalien der Meibom-Drusen beschrieben [10].…”