نتایج جستجو برای: optic nerve hypoplasia
تعداد نتایج: 201064 فیلتر نتایج به سال:
The clinical presentation of optic nerve anomalies associated with renal hypodysplasia should alert the clinician to the possibility that a patient may have renal coloboma syndrome, a condition also known as papillorenal syndrome (OMIM#120330). The optic nerve findings could be described as a ‘dysplasia’, characterized by absent central vessels with the emergence of vessels from the periphery o...
purpose : to evaluate orbital blood flow velocities and optic nerve diameter with doppler and gray-scale sonography in patients with acute unilateral optic neuritis (on) methods : orbital doppler and gray-scale sonography was performed in 46 eyes of 23 patients aged 19-47 with acute unilateral on. on was diagnosed by an ophthalmologist on the basis of clinical presentation, presence of decrease...
Background and purpose: Optic neuritis is one of the common causes of unilateral or bilateral visual loss. The most common cause of this disorder is demyelinating disease of the central nervous system (CNS) and most of the patients with optic neuritis will present other signs of multiple sclerosis (MS). The diagnosis depends on the clinical findings, however, magnetic resonance imaging (MRI) is...
The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development. Using a combination of autozygosity mapping and next generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX69, in two consanguineous families diagnosed ...
PURPOSE Optical coherence tomography (OCT) has revolutionized the diagnosis and management of adult retinal and optic nerve disease. Children were deprived of this technology until the recent development of handheld spectral-domain OCT (HH-SDOCT). In this article, we review the applications of OCT imaging in pediatric ophthalmology. METHODS This study was a review of the literature. RESULTS...
Interstitial deletions of chromosome 12p are rare, and the phenotype spectrum is therefore still unknown. The thirteen patients reported so far suffer from developmental delay, optic nerve hypoplasia, micropenis, hypoplastic hair and skin, oligodontia, brachydactyly, and arterial hypertension. We report a de novo 12p12.2-p11.22 deletion of 9.2 Mb detected by array CGH analysis in a boy with glo...
A 14-year-old who had 7episodes of relapsing unitaleral paralysis of facial nerve during 7 year-;. was admitted to the hospital. The X-Ray revealed Osteopetrosis, and the bone biopsy was proved this diagnosis. But there was not any bone fracture, or anemia. Pressure over facial nerve caused by condensation of entire facial nerve canal. was detected by tomographia. Probablv intermitant facial...
Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression...
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