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Coloboma (0)
Articles on Coloboma
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Atypical macular coloboma in a patient with adult vitelliform dystrophy.
Can J Ophthalmol 45(5):544-5 (2010) PMID 20648068
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Oral findings in Midline Syndrome: a case report and literature review.
Med Oral Patol Oral Cir Bucal 15(4):e579-82 (2010) PMID 20173721
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Optic disc abnormalities - diagnosis, evolution and influence on visual acuity.
Bosn J Basic Med Sci 10(2):125-32 (2010) PMID 20507293
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.
Am J Med Genet A 152A(3):732-6 (2010) PMID 20186791
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.
Am J Med Genet A 152A(3):665-73 (2010) PMID 20186814
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.
J Craniofac Surg 21(2):390-5 (2010) PMID 20186077
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.... -
[CHARGE syndrome].
Arch Argent Pediatr 108(1):e9-e12 (2010) PMID 20204230
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.
Audio, Transactions of the IRE Professional... (2010) PMID 20461149
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.
Mol Vis (2010) PMID 20664696
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.
Schweiz Arch Tierheilkd 151(12):597-603 (2009) PMID 19946851
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...
