Ocular and Systemic Findings in Adults with Uveal Coloboma

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Systemic associations of uveal coloboma.

Closure of the optic cleft occurs about the sixth week of intrauterine life. Clinically, failure of complete closure results in a coloboma of the uveal tract which is variable in its position and extent, and there is sometimes also an associated coloboma of the optic nervehead; defective closure of the cleft is known to be under genetic influence. The usual mode of transmission of such a defect...

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Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study.

OBJECTIVE To describe the incidence, ocular findings, and systemic associations of coloboma in a population-based cohort of children. METHODS We retrospectively reviewed the medical records of pediatric (aged <19 years) patients diagnosed as having ocular coloboma from January 1, 1968, through December 31, 2007, as residents of Olmsted County, Minnesota. RESULTS Thirty-three children were n...

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Uveal coloboma and true Klinefelter syndrome.

The clinical features of 'Klinefelter' syndrome were first described by Klinefelter, Reifenstein, and Albright (1942). The true Klinefelter syndrome is chromatin-positive and is due to X chromosome polysomy, most frequently 47,XXY (Jacobs and Strong, 1959), but karyotypes with one or more X's or Y's additional to the XXY formula, such as 48,XXXY, 49,XXXXY, and mosaicisms of XXY with other stem-...

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Severe congenital ocular coloboma

Congenital ocular colobomas are the result of a failure in closure of the embryonal fissure. They are important causes of childhood visual impairment and blindness. A 22 year old female patient with no particular history complaining of blurred vision of left eye; Visual acuity of the left eye is limited to counting finger; examination of the anterior segment was unremarkable. At fundoscopy, a l...

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ژورنال

عنوان ژورنال: Ophthalmology

سال: 2020

ISSN: 0161-6420

DOI: 10.1016/j.ophtha.2020.05.028