The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Patients with retinal telangiectasia may present with retinopathy. In younger patients this is referred to as Coats disease. [neuroweb.us]

Moderate photophobia and dyschromatopsia are present but nystagmus is absent. The impact on the visual field seems to be minimal and limited to decreased sensitivity in the central areas. Systemic Features: No systemic abnormalities are associated. [disorders.eyes.arizona.edu]

As well as the more frequently presented standard subjects of dynamics, motion control, electronics and electromechanics, this book includes an overview of systems engineering, optics and precision measurement systems, in an attempt to establish a connection [books.google.es]

• Plethora

  This segment is resistant to ischemia because of a plethora of pial vessels. Middle meningeal artery, branch of the external carotid artery forms collateral circulation at the orbital apex. [ijri.org]

Treatment Treatment Options: No treatment beyond low vision aids is helpful. [disorders.eyes.arizona.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment focuses on individual symptoms when possible. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. [diseaseinfosearch.org]

The prognosis is usually bad with survival rates less than a few years after onset. [neuroweb.us]

[…] of retinal ganglion cells and their axons; bilateral subacute optic neuropathy, typically with simultaneous or rapidly sequential central or cecocentral visual loss with eventual ONA; onset of symptoms may be associated with metabolic stressor; poor prognosis [unboundmedicine.com]

Involvement of optic nerve beyond lamina cribrosa is associated with poor prognosis. [63] MRI shows disruption of linear enhancement at choroidoretinal complex or thickening of enhancing choroidoretinal complex in prelaminar optic nerve involvement. [ijri.org]

Optic nerve damage may be reversible, so early detection and treatment of the underlying etiology is critical. Correction of an underlying nutritional deficiency and discontin... [5minuteconsult.com]

Etiology and Pathophysiology Genetic etiologies usually involve defects in mitochondrial function. Exposure of retinal nerve cells to light normally results in the generation of free radical species. [unboundmedicine.com]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.com]

Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies. [reviewofophthalmology.com]

The etiological spectrum ranges from congenital, demyelination, inflammatory, neoplastic, and ischemic to miscellaneous pathologies [Table 1]. Pathologies based on onset of symptoms are also described [Table 2]. [ijri.org]

Relevant External Links for RTN4IP1 Genetic Association Database (GAD) RTN4IP1 Human Genome Epidemiology (HuGE) Navigator RTN4IP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: RTN4IP1 No data available for Genatlas for RTN4IP1 Gene Recessive [genecards.org]

DOA+ - Optic atrophy - deafness- polyneuropathy - myopathy Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the ear and mastoid process - Epidemiological [csbg.cnb.csic.es]

Epidemiology Acquired ONA is more common than hereditary and congenital ONA and tends to occur later in life: Glaucoma, ischemic optic neuropathy (older), optic neuritis (younger), compressive (any age), and toxic/nutritional are leading causes in adults [unboundmedicine.com]

Etiology and Pathophysiology Genetic etiologies usually involve defects in mitochondrial function. Exposure of retinal nerve cells to light normally results in the generation of free radical species. [unboundmedicine.com]

In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis. [acnr.co.uk]

Diffusion weighted MR findings support the metabolic rather than the ischemic pathophysiological hypothesis for stroke-like episodes occurring in MELAS. [neuroweb.us]

Mohr-Tranebjaerg syndrome XLR 3 TMEM126A 612988 Optic Atrophy 7 AR 0 WFS1 606201 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome AD, AR 17 To date, there is no preventative [centogene.com]

[…] diabetes mellitus, hypertension, radiation exposure, alcoholism, renal failure, arteriosclerosis, increased ICP, certain medications/toxins, nutritional deficiencies, compressive lesions, infection, trauma, neoplasm, paraneoplastic syndromes General Prevention [unboundmedicine.com]

Extra genetic material from the X chromosome interferes with male sexual development, preventing the testicles from functioning normally, males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two [wikivisually.com]

Hyperacute corticosteroid treatment of optic neuritis at the onset of pain may prevent visual loss: A case series. Mult Scler Int 2011;2011:815068. 35. Beck RW, Trobe JD. What we have learned from Optic Neuritis Treatment Trial. [ijri.org]