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Autosomal dominant optic atrophy (ADOA) starts in early childhood with loss of visual acuity and color vision deficits. OPA1 mutations are responsible for the majority of cases, but in a proportion of patients with a clinical diagnosis of ADOA, the cause remains unknown. This study aimed to identify novel ADOA-associated genes and explore their causality.
This article was published in the following journal.
Name: Annals of neurology
Mitochondrial optic neuropathies such as Leber's Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA) have been shown to produce an optic neuropathy secondary to retinal ganglion cell l...
To report a case of optic pit maculopathy with retinoschisis-like edema with a rare finding of retinal telangiectasia.
We previously found a dominant mutation, Rwhs, causing white spots on the retina accompanied by retinal folds. Here we identify the mutant gene to be Tmem98. In humans, mutations in the orthologous ge...
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...
The study is designed to evaluate the ability of optical coherence tomography and VCC scanning laser polarimetry to measure and identify the pattern of band atrophy of the optic nerve in p...
The purpose of this study is to compare the abilities of high-speed,high-resolution (HR) optical coherence tomography (OCT) and Stratus OCT for detection of retinal nerve fiber layer (RNFL...
This study evaluates the length of optic nerve lesion on 3D-DIR sequence as an imaging biomarker predictive of retinal axonal loss and visual disability, 12 months after the occurence of a...
This study will interest in the pathophysiology of silent retinal axonal loss in multiple sclerosis. Recent studies have suggested that silent retinal axonal loss (no past history of optic...
Impaired ocular blood flow is an important risk factor in the pathogenesis of primary open angle glaucoma (POAG). A few studies suggest that topical dorzolamide 2% may increase optic nerve...
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
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.
Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)
The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve.
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...