The family was first described in 1968, but was reexamined now as part of the present study. Since 1968, no other affected family members have been detected. Affected and unaffected family members were invited to participate, and all signed an informed letter of consent. The study was approved by the Regional Committees for Medical and Health Research Ethics, Western Norway (IRB 00001872), and adhered to the tenets of the Declaration of Helsinki. The parents, sibs, and offspring of the affected family members underwent a general medical examination with particular attention to skin, bone, and joints. Ophthalmic examination included slit lamp biomicroscopy, gonioscopy, Goldmann and Icare (Espoo, Finland) tonometry, corneal topography (Pentacam; Oculus Wetzlar, Germany), and axial length measurements (IOLMaster; Carl Zeiss Meditec, Jena, Germany; or CineScan, Quantel Medical, Clermont-Ferrand, France). Radiologic examination of the vertebral column and complete dental examinations including orthopantomograms were performed. Bone mineral density (BMD) was measured in the lumbar spine (L2–L4) and both hips by dual x-ray absorptiometry (Prodigy; GE Healthcare-Lunar, Madison, WI). Biochemical markers for bone turnover in serum, osteocalcin, bone-specific alkaline phosphatase, and C-terminal cross-linking telopeptide of type I collagen were analyzed with kits from Immunodiagnostic Systems Nordic (Herlev, Denmark).