Ocular findings in thoracic-pelvic-phalangeal dystrophy

Arch Ophthalmol. 1979 Mar;97(3):489-92. doi: 10.1001/archopht.1979.01020010239010.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Bone and Bones / abnormalities*
  • Child
  • Child, Preschool
  • Female
  • Fingers / abnormalities
  • Fluorescein Angiography
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Pelvic Bones / abnormalities
  • Retinal Degeneration / complications*
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / pathology
  • Strabismus / complications
  • Syndrome
  • Thorax / abnormalities*
  • Toes / abnormalities