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Familial clustering of common forms of primary strabismus like esotropia (ET) and exotropia (XT) is observed in a proportion of the strabismus cohort. The genetic components of this remain unidentified. Linkage studies have demonstrated susceptibility locus for primary strabismus at the STBMS1 locus on 7p22.1 as well as other loci on 4q28.3 and 7q31.2. Recently next generation sequencing (NGS) technology has emerged as a powerful tool in discovery genomics and a large number of novel disease-causing variants are being reported. In this study, we recruited informative families for subsequent genetic analysis for disease-causing variant identification.
This article was published in the following journal.
To detect potential mutation in a Chinese pedigree affected with familial exudative vitreoretinopathy (FEVR).
We present the first case of an otherwise healthy child with a marked left head tilt used to improve a purely horizontal, nonaccommodative deviation. A patching test confirmed strabismus as the etiolo...
The purpose of the study is to evaluate if strabismus can be successfully treated requiring less surgical interventions with a Botox-based treatment regimen compared to a purely surgery ba...
The strabismus impacts binocular visual acuity and stereoscopy. Thus, driving capacities of patients with strabismus may be reduced. The goal of this work is to study the possible ameliora...
Develop and evaluate a new smartphone based app to screen for and measure eye misalignment (strabismus). The investigators will validate the app against simulated strabismus of known magni...
The purpose of this study is to compare the efficacy of 5 % vs. 1.25 % povidone-iodine (PI) as preoperative antiseptic prior to strabismus surgery in children as a prophylaxis of endophtha...
This study will examine the safety and effectiveness of a new surgical procedure to correct congenital nystagmus-a disorder of eye muscle-vision-brain coordination characterized by rapid t...
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease.
NEURONS in the inner nuclear layer of the RETINA that synapse with both the RETINAL PHOTORECEPTOR CELLS and the RETINAL BIPOLAR CELLS, as well as other horizontal cells. The horizontal cells modulate the sensory signal.
A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS.
Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...