Case Reports in Pediatrics (Jan 2016)

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

  • Manisha Goyal,
  • Seema Kapoor,
  • Shiro Ikegawa,
  • Gen Nishimura

DOI
https://doi.org/10.1155/2016/3198597
Journal volume & issue
Vol. 2016

Abstract

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Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.