Early Onset of Fu

Abstract

Abstract: : Background: Fuchs Endothelial Dystrophy (FED) is an autosomal dominant disorder in which corneal edema generally occurs in the sixth decade of life. However, little is known about the earliest manifestations of this disease and factors that influence the penetrance of this disorder. Purpose: To describe 2 young sibships born to parents that both have FED. Method: A 4-generation family with FED (19 affected, 69 total members) was found to contain 2 sibships with both parents (generation 3) affected. No history of consanguinity was elicited. Ophthalmologic examination consisting of slit-lamp microscopy, pachymetry, and confocal microscopy was performed on each of the parents and children from these sibships. Results: One of 3 children from sibship A (age 10) and 1 of 2 children from sibship B (age 13) were found to have cornea guttata, as were all 4 parents. Best-corrected visual acuity was 20/25 or better in both eyes of affected children. Corneal thickness averaged 580 ± 15 µm in affected adults (n = 8 eyes), 575 ± 10 µm in affected children (n = 4) and 533 ± 7 µm in unaffected children (n = 6). Endothelial cell density was 3134 and 3099, polymegathism was 38% and 34% (normal < 30%), and pleomorphism was 59% and 33% (normal > 60%) in affected children A and B, respectively. Conclusion: Children with 2 affected parents in this family can develop clinical manifestations of FED early, i.e., within the first decade. This finding suggests that more than 1 allele contributes to FED in an additive fashion. Further studies are underway to identify the disease causing gene(s) in this pedigree. Clinical follow-up is warranted in these pediatric patients to determine if their disease course differs from adult-onset FED patients.

Keywords: cornea: endothelium • degenerations/dystrophies • genetics