Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency
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چکیده
منابع مشابه
Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency.
Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present ...
متن کاملCase Report: Hyperprolactinemia and growth hormone deficiency associated with Morning Glory Syndrome; with a
Morning Glory Syndrome (MGS) is a rare congenital malformation of the optic nerve that is caused by a failure of the closure of the choroidal embryonic fissure . The syndrome is usually seen in association with midline in utero cranial defects, such as transsphenoidal and basal encephaloceles. Although MGS usually presents as an isolated ocular finding, it can be associated with endocrinologic...
متن کاملMorning glory syndrome: clinical and electrofunctional study of three cases.
Three cases of morning glory syndrome are described and some new electrofunctional and tomodensitometric findings are reported. The amplitude of the waves of the electroretinogram is reduced and correlates with the extension of the retinal changes. The visually evoked potentials elicited with bright flashes have normal latencies but generally subnormal amplitudes. The amplitude of the potential...
متن کاملNovel Growth Hormone-Releasing Hormone Receptor Gene Mutations in Turkish Children with Isolated Growth Hormone Deficiency
OBJECTIVE Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defects on GHRHR causing IGHD in the Turkish population have not yet been reporte...
متن کامل[Retinal detachment associated with morning glory syndrome].
CASE REPORT A twenty three year old woman was diagnosed of a morning glory papillary anomaly, then with normal visual acuity (VA). Nine years later, the VA decreased to 0.4, secondary to a serous macular detachment, confirmed by optical coherence tomography (OCT). After treatment with C2F6 gas injection, positioning, and peripapillary laser, the VA improved to 0.7 and the foveolar area reattach...
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Endocrinologia & Metabologia
سال: 2008
ISSN: 0004-2730
DOI: 10.1590/s0004-27302008000800004