Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
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DOI: 10.1080/13816810.2020.1861309
Abstract: ABSTRACT Background: Stickler syndrome is a hereditary disorder of collagen tissues causing ocular, auditory, orofacial, and joint manifestations. Ocular findings typically include vitreous degeneration, high myopia, retinal detachment, and cataract. Many subjects demonstrate sensorineural or… read more here.
Keywords: mutations col9a2; autosomal recessive; stickler syndrome; visual acuity ... See more keywords