Retinal involvement in thoracic-pelvic-phalangeal dystrophy.

Abstract

A patient with typical thoracic-pelvic-phalangeal dystrophy has survived to the age of 11 years with no pulmonary problem except a single episode of pneumonia at the age of 5 years. She has no evidence of renal disease. An associated ocular lesion resembled Leber's congenital amaurosis clinically but was different on electrophysiologic testing.

• Authors: L A Bard, P A Bard, G W Owens, B D Hall
• Journal: Archives of ophthalmology (Chicago, Ill. : 1960) (Arch Ophthalmol) Vol. 96 Issue 2 Pg. 278-81 (Feb 1978) ISSN: 0003-9950 [Print] United States
• PMID: 629676 (Publication Type: Case Reports, Journal Article)

Topics

• Anthropometry
• Bone Diseases, Developmental (complications, diagnosis)
• Child
• Child, Preschool
• Electroretinography
• Evoked Potentials
• Female
• Fingers (abnormalities)
• Humans
• Macular Degeneration (diagnosis, etiology, physiopathology)
• Pelvic Bones (abnormalities)
• Physical Examination
• Retina (physiopathology)
• Retinal Degeneration (etiology)
• Syndrome
• Thorax (abnormalities)