Brittle cornea syndrome

Anne E. Christensen

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway

Eight family members in three generations underwent ophthalmic, dental, and general medical examination, including radiological examination of the spine. Bone mineral density (BMD), serum levels of vitamin D, parathyroid hormone and biochemical markers for bone turnover were measured. Skin biopsies were examined by light and transmission electron microscopy. Molecular genetic studies included homozygosity mapping with SNP markers and DNA sequencing.

At 42 and 48 years of age, respectively, both affected individuals were blind due to retinal detachment and secondary glaucoma. They had extremely thin and bulging corneas, velvety skin, chestnut colored hair, scoliosis, reduced BMD, dental anomalies, hearing loss and minor cardiac defects. The morphologies of the skin biopsies were normal except that in some areas slightly thinner collagen fibrils were seen in one of the affected individuals. Data from the genetic analysis will be reported.