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Results for “Eye Abnormalities”

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At least 793 records · Page 44Linked to original sources
PubMed1998

A survey of paediatricians' practice and training in routine infant eye examination.

A survey of a sample of UK paediatricians was carried out to identify the practices and determine the training of those involved in routine surveillance examinations to detect ophthalmic disorders in infants. The findings indicate important variation in current practices and raise concerns about both undergraduate and postgraduate training in ophthalmic assessment of infants.

Eye Abnormalities↗
PubMed1978

The Arden grating test of visual function: a preliminary study of its practicability and application in a rural community in north-west Iran.

In a preliminary study involving 75 normal and 10 abnormal eyes the Arden grating acuity test was assessed under difficult conditions of rural field work. It was found to be adequately sensitive and specific for screening out individuals with visual impairment due to refractive errors or ocular disease, and to distinguish between these. Inexperienced paramedical personnel could carry out the test satisfactorily with no difficulty and with a minimum of training. In spite of the unusually distracting conditions under which the test was carried out 95% of the subjects tested performed satisfactorily. The results of this preliminary study suggest that the Arden grating test is a valuable tool for screening large populations in rural areas of developing countries.

Adolescent↗
PubMed1996

Peters' anomaly.

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Animals↗
PubMed2006

The cardiofaciocutaneous syndrome.

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward-slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain-of-function mutations in four different genes BRAF, KRAS, mitogen-activated protein/extracellular signal-regulated kinase MEK1 and MEK2, all belonging to the same RAS-extracellular signal-regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP-2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS-ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.

Abnormalities, Multiple↗
PubMed2007

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

BACKGROUND: Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct 13q regions and specific clinical features. METHODS: 14 Italian patients carrying partial de novo 13q deletions were studied. Molecular-cytogenetic characterisation was carried out by means of array-comparative genomic hybridisation (array-CGH) or fluorescent in situ hybridisation (FISH). RESULTS: Our 14 patients showed mental retardation ranging from profound-severe to moderate-mild: eight had central nervous system (CNS) anomalies, including neural tube defects (NTDs), six had eye abnormalities, nine had facial dysmorphisms and 10 had hand or feet anomalies. The size of the deleted regions varied from 4.2 to 75.7 Mb. CONCLUSION: This study is the first systematic molecular characterisation of de novo 13q deletions, and offers a karyotype-phenotype correlation based on detailed clinical studies and molecular determinations of the deleted regions. Analyses confirm that patients lacking the 13q32 band are the most seriously affected, and critical intervals have been preliminarily assigned for CNS malformations. Dose-sensitive genes proximal to q33.2 may be involved in NTDs. The minimal deletion interval associated with the Dandy-Walker malformation (DWM) was narrowed to the 13q32.2-33.2 region, in which the ZIC2 and ZIC5 genes proposed as underlying various CNS malformations are mapped.

Abnormalities, Multiple↗
PubMed1998

Triophthalmia and facial clefting: a case report.

We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.

Craniofacial Abnormalities↗
PubMed1981

Ocular bobbing in encephalitis.

Abnormal eye movements described as ocular bobbing are most often encountered in the setting of pontine vascular disease. This report deals wih the onset and course of ocular bobbing in a young woman who had encephalitis confirmed by biopsy. Unusual eye movements developed during progressive deterioration of brain and brain stem function which led to coma. The eye movements occurred spontaneously and could also be triggered by cutaneous stimulation of the face, head, extremities, and auditory canals. The patient recovered fully over a period of several months.

Adult↗