The ocular findings in Kniest dysplasia.
We studied seven patients who had Kniest dysplasia. All of the patients had congenital severe myopia and vitreoretinal degeneration. Four patients developed rhegmatogenous retinal detachments. Early surgery on one patient resulted in successful reattachment and 20/50 vision at a three-year follow-up visit. Other ocular findings included cataracts in two patients, dislocated lenses in one patient, and blepharoptosis in one patient.
D000015:Abnormalities, Multiple / Q000150:complications*; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002972:Cleft Palate / Q000150:complications; D004392:Dwarfism / Q000150:complications* / Q000151:congenital; D005128:Eye Diseases / Q000209:etiology; D005260:Female; D006801:Humans; D008297:Male; D009216:Myopia / Q000209:etiology*; D011859:Radiography; D012162:Retinal Degeneration / Q000209:etiology*; D012163:Retinal Detachment / Q000209:etiology*; D013577:Syndrome; D014792:Visual Acuity; D014822:Vitreous Body