Congenital endothelial dystrophy (CHED) manifests either in infancy or in young childhood with a cloudy cornea, light sensitivity, tearing, and sometimes nystagmus. Two types of CHED are recognized CHED 1 (autosomal dominant) and CHED 2 (autosomal recessive). CHED 1 is a rare subtype, characterized by swelling (edema) of the cornea, pain, and corneas that are clear at birth, but become cloudy during early infancy. Patients with CHED1 usually require a penetrating keratoplasty, it carries a good visual prognosis, even when done late in life.
Mahmood and Teichmann (2000) described three family members with corneal amyloidosis indistinguishable from PGDD associated with congenital endothelial dystrophy, a 5-year-old girl, her 21-year-old maternal aunt, and a 16-year-old paternal uncle. The siblings of the first patient and her parents' siblings were affected with CHED. She had poor visual acuity since birth; there were right esotropia, bilateral corneal edema with bullae and a few central subepithelial grayish-white elevations. The maternal aunt had also poor visual acuity since birth; there was bilateral diffuse corneal edema with multiple nodular grayish-white elevations. She had a successful PKP for her left eye. The uncle also underwent PKP for CHED in the left eye at the age of 16. Three years later, he had it in the right eye. His history showed poor visual in both eyes since birth, also he had multiple nodular grayish-white elevations in his left eye with corneal edema. Family history revealed that three sisters of the first patient and a maternal and a paternal uncles and nieces of the second patient and a brother and nieces of the third patient and a sister, all had CHED.