File:Ehlers-danlos.png

Summary
Title: The patient was a four-year-old female who was first seen three months before with a two day history of swelling of the upper lid of the left eye and lower lid of the right eye. This was apparently due to some skin eruption. The patient was also thought to have congenital glaucoma and the sclerae were noted to be blue. The corneas also protruded anteriorly and it was thought the patient might possibly have keratoconus. The patient was thought to have the syndrome of blue sclerotics with a high myopic astigmatism. Incidentally, the parents were first cousins. Generally, the patient had a brachycephaly, there was no nystagmus and the heart was normal. The patient was thought to possibly have osteogenesis imperfecta. She was also thought to have the typical physique of Marfan's, but the lenses were not dislocated. She had blue sclerae ([1], [2]) and keratoconus and she was -6.00 to -8.00 diopters myopic. It appeared that the patient had type VI Ehler's Danlos syndrome on the basis of the blue sclera, high myopia and keratoconus.

Source: Original Source: NIG.gov Case 465

Author: National Eye Institute