Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey

Genet Med. May-Jun 2001;3(3):192-6. doi: 10.1097/00125817-200105000-00008.

Abstract

Purpose: To define variations in the clinical manifestations of Stickler syndrome.

Methods: A questionnaire was sent to 612 persons.

Results: Of the 316 usable replies, 95% of persons had eye problems (retinal detachment occurred in 60% of patients, myopia in 90%, and blindness in 4%); 84% had problems with facial structures such as a flat face, small mandible, or cleft palate; 70%, hearing loss; and 90%, joint problems, primarily early joint pain from degenerative joint disease. Treatment included cryotherapy and laser therapy for retinal detachment, repair of cleft palate, use of hearing and mobility aids, and joint replacements.

Conclusions: There are wide variations of symptoms and signs among affected persons, even within the same family. There are delays in diagnosis, lack of understanding among family members, denial about the risk of serious eye problems, and joint disease.

MeSH terms

  • Adolescent
  • Age Factors
  • Aged
  • Blindness / diagnosis
  • Blindness / genetics
  • Bone and Bones / abnormalities
  • Child
  • Child, Preschool
  • Cleft Palate / complications
  • Cleft Palate / genetics
  • Deafness / diagnosis
  • Deafness / genetics
  • Eye Diseases / diagnosis*
  • Eye Diseases / genetics*
  • Facies
  • Humans
  • Infant
  • Infant, Newborn
  • Joint Diseases / diagnosis
  • Joint Diseases / genetics
  • Middle Aged
  • Myopia / diagnosis
  • Myopia / genetics
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics
  • Surveys and Questionnaires
  • Syndrome