Purpose. To report the visual results and success rate of penetrating keratoplasty (PKP) in a series of young children with congenital hereditary endothelial dystrophy (CHED).
Methods. This is a retrospective study on twenty-four eyes of 15 patients (seven male and eight female) operated on for CHED. Children less than 12 years of age at the time of surgery who were followed for at least 6 months were recalled. Characteristics of the patients, indications for PKP, final visual outcome, and graft clarity were evaluated. The following tests were employed: McNemmar test for evaluating visual results, Kaplan-Meyer analysis for determination of graft survival, and Mann-Whitney U test for evaluating the relationship between visual outcome and age at PKP.
Results. Patients' age at diagnosis and at initial PKP was 6.5 ± 3.6 and 8.1 ± 2.5 years, respectively. Follow-up period was 35.5 ± 36.2 months. Visual acuity could be evaluated by Snellen chart in 19 eyes. Preoperative visual acuity was less than 20/80 in all of these. Postoperatively, visual acuity was less than 20/80 in nine eyes (47.4%) (P < 0.002). Visual acuity improved in 18 (94.7%) of 19 eyes. There was no relationship between age at initial PKP and final visual outcome (P = 0.35). At the last examination (24 grafts), 19 were clear (79.1%), two were hazy (8.3%), and three were opaque (12.5%). Allograft rejection was seen in 10 eyes (43.4%), seven of which were endothelial. Excluding one case of trauma, all graft failures resulted from endothelial rejection. The probability of primary graft survival was 88% at 3 years and 74% at 5 years.
Conclusion. Regarding the difficulties in pediatric keratoplasty and the absence of a relationship between postoperative visual outcome and age at keratoplasty, a conservative approach and careful risk-benefit ratio evaluation are recommended in patients with CHED.
Congenital hereditary endothelial dystrophy (CHED) presents as bilateral diffuse corneal haziness and edema. It is inherited as an autosomal dominant or recessive trait. The latter appears to be more prevalent and is more commonly associated with nystagmus. 1–3 Pathogenesis of the condition is endothelial cell degeneration during intrauterine or infantile periods. 4 The most important differential diagnosis is congenital glaucoma, but birth trauma, mucopolysaccharidosis, and intrauterine infections must also be considered. Visual acuity may be affected to varying degrees and is surprisingly better than the clinical appearance of the eyes;5,6 however, CHED can lead to amblyopia in children.
There are few published articles reporting PKP for CHED in the literature. There is a high prevalence of CHED in our geographic area, 2,3 and with our increased experience at our tertiary referral center, we present our second report on a younger group of patients. 2