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H. Kondo, A. Miyagawa, E. Uchio, M. Migita; Novel Mutation in COL2A1 Gene in a Family With Stickler Syndrome of Minimal Extraocular Symptoms. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4111.
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© ARVO (1962-2015); The Authors (2016-present)
To report clinical features in a Japanese family with hereditary vitreoretinal dystrophy and correlate the underlying disease mutation.
Ocular examinations including a slit-lamp microscopy, funduscopy and utralsonography were performed in five patients of a family. After extracting leukocyte DNA from 6 family members, disease segregation was tested for possible responsible genes for Stickler syndrome and Wagner disease (COL2A1, COL11A1 and CSPG2), using macrosatellite markers closely located in each gene. Direct sequencing was performed for genes in which segregation was concordant with disease.
The 5-year-old proband had a total retinal detachment leading to a vision loss OD and a high myopia (-10D) with a myopic tigroid appearance OS. The family history was negative for systemic disease except for the proband with cleft palate. Dense nuclear cataract was found for all adult patients and an extensive atrophy in the retina and choroid was observed for the maternal granduncle, suggestive of Wagner disease. Retinal detachment was noted for the maternal grandfather, favoring a diagnosis of Stickler syndrome. Vitreous phenotype was unclear in the adult patients because of the cataract. Microsatellite analysis indicated that COL2A1 showed cosegregation with disease trait while COL11A1 and CSPG2 showed discordant segregation. Direct sequencing of COL2A1 exons revealed a novel 1-bp deletion mutation at a boundary between exon 4 and intron 3 (NG_008072.1:g.11301_11303delG).
This family presented with variable ocular phenotype of Stickler syndrome and with minimal extraocular symptoms. Although the disease is genetically distinct from other vitreoretinal dystrophies including Wagner disease, the diagnosis is often elusive if systemic symptoms are absent. The mutational analysis can facilitate the correct diagnosis. The present study extends the spectrum of COL2A1 mutation associated with Stickler syndrome and offeres to proper genetic counseling.
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