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Articles on Coloboma
Atypical macular coloboma in a patient with adult vitelliform dystrophy.
Oral findings in Midline Syndrome: a case report and literature review.
Optic disc abnormalities - diagnosis, evolution and influence on visual acuity.
Congenital abnormalities of the optic disc are not so rare. The etiology for the most of them is unknown. Visual acuity of affected eye may be minimally or severely affected, depending on the extent of lesion. All of these conditions can be unilateral or bilateral. Children who have unilateral optic...
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature.
We report here the characterization of a mosaic cytogenetic abnormality detected by array-CGH in a 16-year-old female with primary DBH deficiency together with dysmorphic features. These features could not be explained by DBH deficiency leading to further investigation. Karyotype was reported normal...
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.
We obtained a temporal bone (TB) of a patient with CHARGE syndrome who died from bacteremia at 3 months of age. The clinical diagnosis was confirmed in the patient by direct DNA sequencing and the detection of a de novo, truncating CHD7 mutation, c.6169dup (p.R2057fs). We assessed changes of the TB...
Oral-nasal-ocular cleft: the greatest challenge among the rare clefts.
Tessier number 3 cleft is one of the most difficult and challenging malformations to correct for the reconstructive surgeon. Besides the difficulties of its treatment, patients with Tessier number 3 cleft may achieve good results when the team has good skills....
We describe 3, not related patients with a clinical diagnosis of CHARGE syndrome and each of them with a different mutation in the CHD7 gene sequence....
Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations....
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
This is the fourth report detailing homozygous FOXE3 mutations causing anterior segment abnormalities in human patients. Previous papers have emphasized aphakia and microphthalmia as the primary phenotype, but we find that the initial diagnosis - and perhaps the only one possible in a rural setting...
Collie Eye Anomaly in Switzerland.
In this retrospective study, the results of 3'527 eye examinations in 6 different breeds affected with Collie Eye Anomaly (CEA) over a period of 8 years (1999 - 2007) are described. CEA was divided into three main ophthalmoscopic features, a) choroidal hypoplasia (CRH), b) CRH and coloboma and c) co...