Ophthalmic Manifestations in Patients with Ectodermal Dysplasia Syndromes

Abstract

Background. Ectodermal dysplasia (ED) is a disorder that results from abnormal formation of at least two of the four major ectodermal derivatives in the developing embryo. The ectoderm of the embryo forms the skin, teeth, hair and nails, sweat glands and part of the eyes. Objectives. The aim of this article is to reveal ophthalmologic symptoms and signs as multidisciplinary, reliable criteria for ectodermal dysplasia. Material and Methods. In this retrospective study, 24 patients with ED were analyzed from the recorded data. Ophthalmological examination of the patients, who had previously received the diagnosis of ED in the dental department, was done. During the examination, ocular symptoms related to tear film, corneal changes, lacrimal duct, periorbital hyperpigmentation, alteration lashes and eyebrows were evaluated. Results. The age ranged between 3-45, and the mean and standard deviation (Mean ± SD) was 15.8 ± 7.4 years. The number of males was 13 (54.2%) and females, 11 (45.8%). Eighteen patients (75.0%) suffered from ocular complaints related to the ocular surface. In 11 of the patients with ED, there were dry eye symptoms. While the mean age of cases with eye involvement was 17.5, it was 23.1 in cases with dry eye symptoms. Conclusions. In the study, it was observed that, in patients with ED, ocular complaints, particularly dry eye symptoms, may increase as age advances (Adv Clin Exp Med 2014, 23, 4, 605-610).

Ocular findings and selected ophthalmic diagnostic tests in a group of young commercially available Guinea and Skinny pigs (Cavia porcellus)

“…Hairless dogs such as the Chinese crested breed demonstrate a hairless phenotype that is classified as a form of ectodermal dysplasia (ED) . Ectodermal dysplasia is a group of genetic disorders that involves a primary defect in at least two ectodermal derivatives including the skin, apocrine glands, and parts of the eyes . Corneal and conjunctival epithelial cells as well the lacrimal gland originate from the surface ectoderm .…”

“…Corneal and conjunctival epithelial cells as well the lacrimal gland originate from the surface ectoderm . A human study reported that in patients with ED, ocular complaints particularly dry eye symptoms were observed . X‐linked hypohidrotic ectodermal dysplasia (EDA) is the most frequent form of EDA, and the lack of sebaceous glands have been reported in both German shepherds and humans.…”

“…6 Ectodermal dysplasia is a group of genetic disorders that involves a primary defect in at least two ectodermal derivatives including the skin, apocrine glands, and parts of the eyes. [6][7][8] Corneal and conjunctival epithelial cells as well the lacrimal gland originate from the surface ectoderm. 9 A human study reported that in patients with ED, ocular complaints particularly dry eye symptoms were observed.…”

“…9 A human study reported that in patients with ED, ocular complaints particularly dry eye symptoms were observed. 7 X-linked hypohidrotic ectodermal dysplasia (EDA) is the most frequent form of EDA, 8,10,11 and the lack of sebaceous glands have been reported in both German shepherds and humans. A study of Tabby mice, which serve as a model for EDA in humans, demonstrated characteristic abnormalities in the ocular surface including neovascularization, keratitis, ulceration, and the absence of meibomian glands.…”

Keratoprosthesis in Ectodermal Dysplasia

“…1,2 Ophthalmic complications vary and can affect the eyelids, lacrimal system, and corneal surface and include complete limbal stem cell deficiency. 3,4 Herein we describe a case of a 73-year-old, white, female patient with an ectodermal dysplasia syndrome with typical skin, hair, and nail features in addition to a cleft palate, ankyloblepharon, and ear canal malformations. Her ocular history was significant for complete limbal stem cell deficiency, eyelid and lacrimal system abnormalities, and progressive opacification of both corneas.…”