CASE REPORTS   

Minerva Oftalmologica 2012 March;54(1):39-45

Copyright © 2012 EDIZIONI MINERVA MEDICA

language: English, Italian

Acute keratoconus in a patient with hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome)

Longo C. ¹, Penna Caroppi A. F. ¹, Gagliardo F. ¹, Bisceglia L. ², Laborante A. ¹

¹ Ophthalmologic Unit, IRCCS “Casa Sollievo Della Sofferenza”, San Giovanni Rotondo, Foggia, Italy; ² Division of Genetics, IRCCS “Casa Sollievo Della Sofferenza”, San Giovanni Rotondo, Foggia, Italy

The authors describe the case of an acute keratoconus in a 15-year-old patient suffering from hypohidrotic ectodermal dysplasia, who came to their attention because he complained about a sudden deterioration of his eyesight and ocular discomfort. After initial medical treatment with artificial tears, ocular hypotensive drugs, local cortisone, hypertonic solution used locally, eventually lacrimal plugs were inserted and perforating keratoplasty was performed. It is important that these patients are monitored by an eye specialist in order to prevent progressive damage to their eyesight which may prove to be the most disabling characteristic of this condition.