Ocular findings in thoracic-pelvic-phalangeal dystrophy.
Two unrelated patients with thoracic-pelvic-phalangeal dystrophy syndrome had retinal degeneration. A pathologic study of both eyes from one of the patients showed severe degeneration of the peripheral retina, with predominantly cone-type cells remaining.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005451:Fluorescein Angiography; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010384:Pelvic Bones / Q000002:abnormalities; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D013285:Strabismus / Q000150:complications; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities