Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis

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Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis

In patients with foveal hypoplasia, anterior segment dysgenesis and an absence of systemic findings, consider a recently described syndrome of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis (FHONDA) in the differential diagnosis.

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Anterior segment dysgenesis in a child with factor VII deficiency

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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A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2.

T he phrase anterior segment dysgenesis (ASD), also sometimes known as anterior segment ocular or mesenchymal dysgenesis (ASOD or ASMD, OMIM #107250), was first used in 1981 by Hittner and colleagues to describe a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural crest derived mesenc...

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Bilateral anterior segment dysgenesis with the presumed Peters’ anomaly in a cat

A seven-month-old female domestic shorthaired cat was presented for buphthalmos in the right eye and corneal cloudiness in the left eye. Full ophthalmic examinations were performed for both eyes and enucleation was done for the right nonvisual eye. Congenital glaucoma caused by anterior segment dysgenesis was confirmed for the right eye. In the left eye, slit-lamp examination revealed focal cor...

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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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ژورنال

عنوان ژورنال: Clinical Case Reports

سال: 2015

ISSN: 2050-0904,2050-0904

DOI: 10.1002/ccr3.319