Article citationsMore>>

Poulson, A.V., Hooymans, J.M., Richards, A.J., Bearcroft, P., Murthy, R., Baguley, D.M., Scott, J.D. and Snead, M.P. (2004) Clinical Features of Type 2 Stickler Syndrome. Journal of Medical Genetics, 41, e107.
https://doi.org/10.1136/jmg.2004.018382

has been cited by the following article:

• TITLE: Rhegmatogenous Retinal Detachment in Pierre Robin Anomaly—A Suspicion for Stickler Syndrome: Case Report

  AUTHORS: Maryam A. Hadi Almohsen, Fatema Bin Rajab

  KEYWORDS: Retinal Detachment, Scleral Buckling, Pathological Myopia, Retinal Breaks

  JOURNAL NAME: Open Journal of Ophthalmology, Vol.12 No.1, February 10, 2022

  ABSTRACT: Stickler syndrome (SS) is an autosomal dominant inherited genetic disorder that presents with hearing loss, a cleft palate, epiphyseal dysplasia, and degeneration, similar to arthritis and well known to be associated with rhegmato-genous retinal detachments. A particular group of physical features called Pierre Robin sequence is also common in people with stickler syndrome. Pierre Robin sequence includes a cleft palate, glossoptosis, and micrognathia. We describe a case report of a family diagnosed with stickler syndrome presenting with Pierre Robin sequence and share some universal management steps for rhegmatogenous retinal detachment in stickler syndrome. Genetic testing is important to support the diagnosis and conduct screenings of family members.