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Shirel Weiss, Naama Orenstein, Alon Zahavi, Nitza Goldenberg-Cohen; High myopia and strabismus induced by a deep intronic mutation in COL2A1. Invest. Ophthalmol. Vis. Sci. 2019;60(9):425.
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© ARVO (1962-2015); The Authors (2016-present)
Stickler syndrome is an autosomal dominant connective tissue disorder with systemic and ocular manifestations. Ophthalmological findings include moderate to high myopia, abnormal vitreous, glaucoma and cataract. Three subtypes have been described, distinguished by clinical characteristics and specific genetic mutations.We describe a possible genetic mutation leading to high myopia, strabismus and retinal detachment in multiple family members, compatible with Stickler syndrome.
Clinical and genetic analysis was done for a family suspected of Stickler syndrome. A detailed pedigree, clinical examination, blood sampling and DNA extraction, whole exome sequencing, and a bioinformatics analysis were performed.
Demographic and clinical data of 5 generations of the family were collected. Specific clinical phenotype of Stickler syndrome documented in 13 family members, with 7 having more than one clinical feature. A genetic analysis was performed for 4 family members – proband (the patient), mother, maternal grandfather, and healthy father. As whole exome analysis was insufficient in detecting a relevant mutation, anlysis was extended to include intronic areas. A deep intronic mutation COL2A1 c.1527+135G>A was discovered.
Stickler syndrome has several subtypes with variable clinical features, thereby making a prediction on disease gene locus based on clinical characteristics challenging. Here we present a rarely described intronic mutation in the COL2A1 gene. An early diagnosis of the condition may be aided by genetic testing and is important for genetic counseling, proper clinical management and improved prognosis.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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