Genetics of aniridia and anterior segment dysgenesis.
نویسندگان
چکیده
منابع مشابه
Anterior segment dysgenesis in mosaic Turner syndrome.
AIMS/BACKGROUND Females with Turner syndrome commonly exhibit ophthalmological abnormalities, although there is little information in the literature documenting findings specific to Turner syndrome mosaics. Ophthalmic findings are described in four patients with mosaic Turner syndrome. All had anterior chamber abnormalities and all four had karyotypic abnormalities with a 45, X cell line. The p...
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Glaucoma refers to a heterogeneous group of disorders that involve retinal ganglion cell death, optic nerve damage, and loss of visual field. Glaucoma is a leading cause of vision loss worldwide, affecting an estimated 67 million people. Elevated intraocular pressure is a major risk factor for glaucoma. Individuals with malformations of structures of the anterior segment of the eye frequently d...
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PURPOSE To describe the first case of anterior segment dysgenesis associated with factor VII congenital deficit (hypoproconvertinemia). METHOD A 2-month-old child with factor VII deficiency was referred to our clinic because of corneal opacities. The child was born to consanguineous parents and severe factor VII deficiency was diagnosed on the third day of life because of gastrointestinal ble...
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The anterior segment of the vertebrate eye is constructed by proper spatial development of cells derived from the surface ectoderm, which become corneal epithelium and lens, neuroectoderm (posterior iris and ciliary body) and cranial neural crest (corneal stroma, corneal endothelium and anterior iris). Although coordinated interactions between these different cell types are presumed to be essen...
متن کاملCongenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis
Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, ant...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1996
ISSN: 0007-1161
DOI: 10.1136/bjo.80.7.669