Abstract
Purpose :
The purpose of this retrospective case series is to characterize demographics, ocular findings, and clinical outcomes of eighteen patients (31 eyes) with Ectrodactyly-Ectodermal dysplasia- Cleft Syndrome (EEC) and surgical management of five patients (7 eyes) with this syndrome.
Methods :
This is a retrospective review of all patients with EEC seen at Cincinnati Eye Institute from January 2005 to November 2023. EEC diagnosis was confirmed by the clinical documentation of defects in two or more ectodermal derivatives (hair, teeth, nails, or sweat glands). Demographics, course, and outcomes were assessed. Statistical analysis was performed using SPSS version 21 (IBM Corporation, IL).
Results :
We present 31 eyes of 18 patients with EEC syndrome. All patients showed ocular features. Twenty eyes (57.1%) developed limbal stem cell deficiency (LSCD) and seven eyes (20%) underwent ocular stem cell transplantation (OSST). Three patients (14.3%) were treated with keratolimbal allograft (KLAL), two eyes (5.7%) were managed with living-related conjunctival limbal allograft (lr-CLAL), whereas two eyes (5.7%) required lr-CLAL followed by a KLAL from a donor cornea. All eyes showed a trend toward improved visual acuity and ocular surface stability during the follow-up period.
Conclusions :
EEC is a relatively unknown syndrome among ophthalmologists. Unfortunately, Visual complications are potentially the most serious clinical feature of the syndrome, leading to severe visual impairment and eventually blindness. To the best of our knowledge, this is one of the largest case series of ocular findings in patients with EEC and the only study that follows surgical outcomes.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.