A Novel
COL2A1
Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome
Banu Bozkurt,
Ramazan Güler,
Ebru Marzioğlu Özdemir
et al.
Abstract:A 6-month-old female infant with megalophthalmos was referred with the suspicion of congenital glaucoma. Refractive measurements obtained with handheld autorefractometry were −7.00 −2.00 × 90° in the right eye and −6.00 −2.00 × 100° in the left eye and ultrasonic axial lengths were 22.50 mm in both eyes. Intraocular pressures and vertical and horizontal corneal diameters of the proband were 11 mm Hg, 11 mm, and 11.50 mm in both eyes, respectively. She was diagnosed as having early-onset high myopia. Her father… Show more
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