Serious ophthalmological complications in the Ehlers-Danlos syndrome.

The main features of the Ehlers-Danlos syndrome (EDS) are cutaneous hyperextensibility, articular laxity, and fragility of the tissues.Systemic ramifications may lead to ortho- paedic, cardiovascular, and gastrointestinal problems.Minor ophthalmological changes, including epicanthic folds, strabismus, and myopia are not infrequent, but serious ocular complications are rare.However, there have been a few reports of patients with impaired vision from retinal detachment or displacement of the lens.The EDS is a generalized disorder of connective tissue, which is usually inherited as a dominant trait.There is some scanty evidence to indicate the existence of an uncommon recessive form, and it is of great interest that the majority of the reports of sight-threatening lesions have pertained to individuals who could well have had this genetic background.The purpose of this paper is to describe an affected brother and sister who both became blind from bilateral ocular catastrophes.The transmission of the EDS in their kindred was consistent with recessive inheritance of the trait. Case reportsCase I, a white male, weighed 6 lb. 3 oz.at birth in 1915.Hypermobility of the finger joints was apparent in early childhood, but apart from a tendency to skin-splitting and a moderate myopia, he was quite well until the age of i9 years.He then developed a left-sided hemiplegia, which was attributed to an intracranial bleed, consequent upon a head injury which had occurred 3 weeks previously.Considerable recovery of function took place, but some weakness of the left arm and leg persisted.At the age of 22 years, 3 years after this event, he was struck in the right eye by a rubber patch from a car tyre.Although the blow was of no great severity, the globe of the eye was ruiptured.Primary suture was performed but vision was lost, and the eye was later enucleated and replaced by a prosthesis.He remained in good health until the age of 5I, when he tripped in his home and banged the left side of his head on the ground.The globe of the left eye was ruptured and although the scleral tear was sutured, he remained blind.A younger sister also had the EDS, and she too became blind in early adult life (vide infra).His other six sibs were normal, as were his parents and his own four children.There was no known consanguinity, and no other members of the kindred were affected (Fig. i, overleaf). ExaminationIn I969 he was found to be a thin, tense man, 70 in.tall and weighing I6o lb.His elbows, knees, and shins bore hyperpigmented papyraceous scars, and he had considerable extensibility of the skin.The finger and wrist joints were very lax, and he had a moderate increase in the range of movements