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S. S. Shah, P. A. Quiram, E. M. Stone, V. B. Mahajan; Vitreous Band Phenotype in a Family With Dominantly Inherited Retinal Detachment. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3094.
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© ARVO (1962-2015); The Authors (2016-present)
To report a family with pediatric retinal detachments preceded by equatorial, circumferential vitreous bands, inherited in an autosomal dominant fashion.
Twenty family members, representing three generations, underwent clinical examination including dilated fundus examination, optical coherence tomography, and in selected cases, vitrectomy or laser demarcation. Pedigree members were genotyped with short tandem repeat polymorphism (STRP) genetic markers flanking the COL2A1 gene.
The proband was a four-year-old twin male with bilateral recurrent retinal detachments and proliferative vitreoretinopathy. Family members ranging in age from 4 to 72 years were examined, and a total of 12 affected individuals were identified. An equatorial, circumferential vitreous band was present in all affected subjects. Retinal tears or detachment were present in four subjects. Other abnormalities included posterior subcapsular cataract (7/12), an optically empty vitreous (10/12), lattice (8/12), macular hypoplasia (3/12), retinal dragging (4/12), and epiretinal membrane (2/12). High myopia was not a present. No subject was born premature and the retinal vasculature was well-developed anterior to the band. There were no systemic features of Stickler syndrome. The reported phenotypes of membranous vitreous or fibrillar vitreous associated with respective mutations in the COL2A1 and COL11A1 could not be identified. There was no linkage to the COL2A1 gene in affected family members.
This variant of the Stickler phenotype requires close monitoring. Further genome-wide linkage analysis may help identify the causative gene.
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