Axenfeld-Rieger anomaly and corneal endothelial dystrophy: a case series

Abstract

Report of a study of a family with a remarkable combination of endothelial corneal dystrophy, and anterior chamber dysgenesis classified as Axenfeld-Rieger anomaly. A 56 year-old female had blurred vision complaints. A slit lamp evaluation showed a bilateral posterior embryotoxon and guttata with corneal edema, Descemet membrane's folds, characterizing Fuchs endothelial dystrophy. A 27 year-old daughter was asymptomatic. The biomicroscopic exam disclosed a bilateral nasal and temporal posterior embryotoxon and a central guttata. Gonioscopy showed iridocorneal strands with a prominent Schwalbe´s line. The intraocular pressure was normal. Her sister, a 25 year-old female presented very similar abnormalities along with her brother (22 years old). A 19 year-old female sister presented the iridocorneal angle alterations, without Fuchs endothelial dystrophy, until this moment. This paper presents a family with a central cornea guttata or Fuchs dystrophy associated with Axenfeld-Rieger anomaly. Two different inherited diseases appearing together in an entire family may suggest a single molecular and genetic etiology, with high penetrance.

Characteristics of Corneal Endothelium in Axenfeld Rieger Spectrum

“…1,4 Kniestedt C et al 5 investigated the association of AXRA with Fuchs endothelial corneal dystrophy and reported the appearance of beaten metal due to excrescences in Descemet membrane on histological evaluation. Oliveira et al 6 also reported features of corneal endothelial dystrophy in a family with AXRA. Developmentally, the trabecular meshwork and corneal endothelium share a common pathway during embryogenesis, and it is possible that the corneal endothelium might also be affected in addition to the angle abnormalities.…”