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Pedigree Analysis Familial Primary Concomitant Horizontal Strabismus Northern PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Pedigree Analysis Familial Primary Concomitant Horizontal Strabismus Northern articles that have been published worldwide.
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Proper management of a patient with small to moderate horizontal deviations continues to be challenging for the strabismus surgeon. The use of one-muscle surgery for comitant strabismus has been controversial because of concerns that it may result in a significant number of undercorrections and/or ocular incomitance. Recent literature on unilateral rectus muscle surgery has shown that this surgery is a safe and effective procedure for small and moderate angle horizontal deviations. It has the advantage of l...
To detect potential mutation in a Chinese pedigree affected with familial exudative vitreoretinopathy (FEVR).
Primary localized cutaneous amyloidosis is a group of rare conditions where amyloid deposition is limited to the skin without systemic manifestations. Most cases are sporadic; however, mutations in the oncostatin M receptor (OSMR) and interleukin-31 receptor A (IL31RA) genes can cause a familial form of the condition in up to 10% of cases. Here, we describe a family in which 8 female individuals are affected by either macular amyloidosis or amyloidosis cutis dyschromica. To the best of our knowledge, a sex-...
Familial aggregation analysis is an important early step for characterizing the genetic determinants of phenotypes in epidemiological studies. To facilitate this analysis, a collection of methods to detect familial aggregation in large pedigrees has been made available recently. However, efficacy of these methods in real world scenarios remains largely unknown. Here, we assess the performance of five aggregation methods to identify individuals or groups of related individuals affected by a Mendelian trait w...
Repetitive strain to the optic nerve (ON) due to tethering in adduction has been recently proposed as an intraocular pressure-independent mechanism of optic neuropathy in primary open-angle glaucoma. Since strabismus may alter adduction, we investigated whether gaze-related ON straightening and associated globe translation differ in horizontal and vertical strabismus.
Current clinical methods for assessing strabismus can be prone to error. Binocular optical coherence tomography (OCT) has the potential to assess and quantify strabismus objectively and in an automated manner.
A 2.6-year-old boy presented with prominent corneal arcus. This clinical sign is rarely seen at such a young age and led to the diagnosis of familial hypercholesterolemia (FH). Genetic analysis detected biallelic pathogenic sequence variants c.1069G>A and c.2034C>A in the LDLR gene. There is significant cardiovascular morbidity and mortality associated with FH, hence early diagnosis and treatment is imperative.
Infantile strabismus is a common disorder, characterized by a chronic misalignment of the eyes, impairment of binocular vision, and oculomotor abnormalities. Nonhuman primates with strabismus, induced in infancy, show a pattern of abnormalities similar to those of strabismic children. This allows strabismic nonhuman primates to serve as an ideal animal model to examine neural mechanisms associated with aberrant oculomotor behavior. Here, we test the hypothesis that impairment of disparity vergence and horiz...
Familial hypercholesterolaemia (FH) is a major cause of premature heart disease but remains unrecognised in most patients. This study investigated if a systematic primary care-based approach to identify and manage possible FH improves recommended best clinical practice.
Primary angle closure glaucoma (PACG) is a common form of glaucoma in the Far East. Its defining feature is iridocorneal angle closure. In addition to PACG, indications of angle closure are included in the diagnostic criteria of related conditions primary angle closure suspect (PACS) and primary angle closure (PAC). To the best of our knowledge, a causative gene for iridocorneal angle closure in humans has not been identified. This study aimed to identify the genetic cause of iridocorneal angle closure in a...
Carney complex (CNC) accounts for up to two-thirds of familial cardiac myxoma, which is a rare autosomal dominant syndrome characterized by multiple mucocutaneous lesions and endocrine tumors. Mutation in the cAMP-dependent protein kinase A (PKA) regulatory (R) subunit 1 (PRKAR1A) gene has been identified as a cause of CNC. In this article, we report 3 first-degree relatives with cardiac myxoma who were diagnosed with CNC and underwent surgical resection.
In retinitis pigmentosa (RP), peripheral visual-field loss starts in early stages, whereas central vision loss occurs in advanced stages. Sensory strabismus gradually occurs in RP. We investigated the relationship between ocular deviation and visual function and explored for sensory strabismus risk factors in 119 consecutive patients with RP at various stages. We assessed ocular deviation at far and near distances, that is the central visual field, using the mean deviation (MD) value and visual acuity (VA),...
Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal dominant Alport syndrome or benign familial hematuria. Recently, the existence of a digenic inheritance in Alport syndrome has been demonstrated. We here report heterozygous COL4A3 and COL4A4 digenic mutations in cis responsible for benign familial hematuria. U...
To explore the genetic basis for a Chinese pedigree affected with congenital hypofibrinogenamia.
This study aimed to investigate the genetic mutation characteristics of Kallmann syndrome (KS) with CHARGE syndrome through the clinical features and genetic analysis of a pediatric patient with KS in one pedigree.
To explore the molecular pathogenesis for a pedigree affected with coagulation factor Ⅴ (FⅤ) deficiency.
The cost effectiveness of cascade testing for familial hypercholesterolaemia (FH) is well recognised. Less clear is the cost effectiveness of FH screening when it includes case identification strategies that incorporate routinely available data from primary and secondary care electronic health records.
To investigate the clinical characteristics and magnetic resonance imaging (MRI) findings of the extraocular muscle and ocular motor nerves in congenital monocular strabismus fixus.
The psychosocial and functional impact of strabismus among the elderly is increasingly important as life expectancy increases and factors that enhance the quality of life become more significant. The purpose of this study was to characterize the demographics, presenting complaints, health status, underlying etiology, and outcomes of strabismus surgery in three age cohorts of Medicare-aged patients.
To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).