A Case Series of Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome and Surgical Outcomes.

PURPOSE: To characterize the demographics, ocular findings, and clinical outcomes of 18 patients (35 eyes) with ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome and describe the surgical management for 5 of these patients (8 eyes).

METHODS

This is a retrospective review of all patients with EEC seen at Cincinnati Eye Institute from January 2005 to December 2024. EEC diagnosis was confirmed by the clinical documentation of defects in ≥2 ectodermal derivatives (hair, teeth, nails, or sweat glands). Demographics, course, and outcomes were assessed. The ocular assessment included best-corrected visual acuity (Snellen/logMAR), slit-lamp biomicroscopic evaluation, and ocular surface assessment.

RESULTS

There were 35 eyes of 18 patients with EEC syndrome that were included. All patients showed ocular features. Twenty-five eyes (70.4%) developed limbal stem cell deficiency (LSCD) and 8 eyes (23%) underwent ocular surface stem cell transplantation (OSST) with systemic immunosuppression. Four patients (11.5%) were treated with keratolimbal allograft; 2 eyes (5.7%) were managed with living-related conjunctival limbal allograft; and 2 eyes (5.7%) required living-related conjunctival limbal allograft followed by a keratolimbal allograft. All eyes with OSST had a successful outcome with a stable ocular surface at last follow-up.

CONCLUSIONS

EEC syndrome is a relatively uncommon syndrome, and the ocular findings are potentially the most serious clinical features of this condition, leading to severe visual impairment. LSCD accompanied by conjunctival deficiency affected most of the eyes in this cohort. OSST is an excellent option for stabilizing the ocular surface in patients with EEC with LSCD.