Stickler Syndrome, Type II

Clinical Characteristics

Ocular Features:

Virtually all (85%) patients have a nonprogresssive axial myopia. The vitreous degeneration has a beaded pattern without the veils of type I [1], claimed by some to be important in the distinction of the two types. Paravascular lattice retinopathy is seen in 38% of patients and 64% have cataracts, sometimes with wedge opacities similar to those in type I [1] Stickler syndrome. Nearly half (42%) of patients are reported to have retinal detachments.

Systemic Features:

Hearing loss occurs early and many individuals (80%) eventually require hearing aids. Midline clefting is present frequently with bifid uvula, a highly arched palate, or an actual cleft palate. Joint laxity is common.

Genetics

There are reasons to classify type II Stickler syndrome as a unique disorder apart from type I [1] (108300 [2]). In addition to phenotypic evidence (vitreoretinal disease, amount of hearing loss, and degree of epiphyseal disease), mutation in two different genes are involved. Type II results from a mutation in the COL11A1 [3] (1p21) and type I [1] (108300 [2]) in COL2A1 [4]. Both types are inherited in autosomal dominant patterns.

Type IV [5] (614234 [6]) with vitreoretinal changes, myopia, and a high risk of retinal detachment is inherited in an autsomal recessive pattern.

Treatment

Treatment Options:

Patients with type II Stickler disease need lifelong ophthalmologic monitoring because of the risk of retinal detachments and cataracts with treatment as indicated.

References

Article Title:

Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity [7]

Ang A, Ung T, Puvanachandra N, Wilson L, Howard F, Ryalls M, Richards A, Meredith S, Laidlaw M, Poulson A, Scott J, Snead M. Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. Am J Med Genet A. 2007 Mar 15;143(6):604-7.

PubMed ID:

17318849

Clinical features of type 2 Stickler syndrome [8]

Poulson AV, Hooymans JM, Richards AJ, Bearcroft P, Murthy R, Baguley DM, Scott JD, Snead MP. Clinical features of type 2 Stickler syndrome. J Med Genet. 2004 Aug;41(8):e107.

PubMed ID:

15286167