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Congenital nystagmus (CN) is a heterogeneous disease that shows variable clinical features. There are a few mutations that are known to cause CN. Among them, a PAX6 mutation is known to cause CN with an extremely high frequency of aniridia. Here, we report on a family with an autosomal dominant PAX6 mutation, c.214G > A (p.Gly72Ser.), who presented with CN in the absence of aniridia. This study describes detailed clinical findings, including videonystagmography and fundus photography findings and emphasizes the importance of screening for the PAX6 gene in patients who present with CN in the absence of aniridia, as this will further elucidate the known phenotypes of PAX6-related diseases.
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The ophthalmological inspection of the optic disc is possible since the time of birth. Thereby, changes of normal optic disc configuration can already be detected in early infancy. Congenital optic di...
Optic disc pit (ODP), one of the optic disc cavitary anomalies, is generally congenital and unilateral and occurs equally in males and females. Optic disc pit maculopathy (ODP-M) is characterized by i...
Sudden visual loss and optic disc edema caused by optic neuritis (ON) is usually followed by significant visual recovery. However, little or no recovery occurs when the loss is caused by atypical ON, ...
Low vision in children can be accompanied by pallor of the optic disc with little or no characteristic morphologic changes of the retina. A variety of diseases can be the underlying cause, including h...
In the setting of a pale optic disc, distinguishing a previous episode of optic neuritis (ON) from that of nonarteritic anterior ischemic optic neuropathy (NAION) may be difficult on clinical examinat...
The purpose of this study is to investigate the long-term safety, tolerability and efficacy of neramexane mesylate in the treatment of congenital idiopathic nystagmus (CIN). In addition, a...
The purpose of this study is to investigate the safety and efficacy of neramexane mesylate in the treatment of congenital idiopathic nystagmus (CIN) in comparison to placebo. In addition, ...
Congenital cataract is the main cause of form deprivation amblyopia in children. Current studies confirm that form deprivation amblyopia affects the retinal nerve fiber layer. However, the...
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...
Optic nerve head Drusen are a mostly bilateral change of the optic nerve, eventually causing a slow, but progression loss of the visual fields. Characteristic are the crystalline deposits ...
Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus. (Adams et al., Principles of Neurology, 6th ed, p681)
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis).
A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.
Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...