Each diagnosis includes clinical presentation(s) of affected patients, the best sequences for imaging analysis, expected imaging sequences (in both common and uncommon presentations), and imaging examples of key features. [books.google.com]

The spectrum of its clinical presentation is broad. Most bilateral cases will present with ophthalmic abnormalities such as poor vision and wobbly eyes (nystagmus). Unilateral cases present with strabismus because the affected eye tends to drift. [eye.com.ph]

Each patient presented with congenital nystagmus and was diagnosed with isolated absence of the optic chiasm on the basis of neuroimaging. [ajnr.org]

This association is used to define two forms of the condition 1,8 : not associated with schizencephaly visual apparatus more severely affected hypothalamic-pituitary dysfunction present in 60-80% of patients 6,8 may present as hypoglycemia in the neonatal [radiopaedia.org]

We present a case of optic nerve hypoplasia associated to ectopic neurohypophysis. [elsevier.es]

• Anemia

  Drug-induced ONA Amiodarone, PDE-5 inhibitors (e.g., sildenafil), ethambutol, vincristine, linezolid, streptomycin ONA secondary to medication-induced PTC (isotretinoin, oral contraceptive pills, tetracyclines) Nutritional ONA Vitamin B 12 (pernicious anemia [unboundmedicine.com]

• Involuntary Movements

  Children diagnosed with ONH generally present with vision problems which include nystagmus (involuntary movement of the eyes), which tends to develop at 1 to 3 months and/or strabismus (inability to align both eyes simultaneously), manifested during the [ipfs.io]

Endocrine workups include: fasting morning cortisol and glucose, TSH, free4, growth hormone surrogates (IGF-1, IGFBP-3), LH, SFH, and testosterone (if < 6mo age). [eyewiki.aao.org]

No treatments have been shown to improve vision in these children. [elsevier.com]

Those with normal growth but determined to be GH-deficient by a glucagon stimulation test will be randomized to treatment with GH vs control (no intervention; observation only). [clinicaltrials.gov]

Is there any treatment for optic nerve hypoplasia? There is no medical or surgical treatment for ONH. However, occlusion of the better seeing eye may improve vision in the other eye. [aapos.org]

Treatment Treatment Options: There is no treatment for the optic nerve hypoplasia but individuals need to be monitored for endocrinopathy and treated appropriately. Low vision aids and sometimes mobility training can be helpful for some patients. [disorders.eyes.arizona.edu]

However, there is no specific treatment for the optic nerve anomaly. [eye.com.ph]

What is the visual prognosis associated with it? The visual potential is determined by the integrity of the central retinal axons and does not necessarily correlate with the size of the optic disc. [eye.com.ph]

[…] choice for assessing septo-optic dysplasia. may show a "point down" appearance of the lateral ventricular frontal horns on coronal images absent septum pellucidum hypoplastic pituitary stalk hypoplastic optic chiasm/optic nerves and globes Treatment and prognosis [radiopaedia.org]

It appears to be transmitted as an autosomal recessive trait The Conradi-Hu nermann type carries a good prognosis and has a wide variation of associated abnormalities. [healio.com]

Mighel AS, Johnstone ED, Levene M (2009) Postnatal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. Prenat Diagn 29:442–449 CrossRef Google Scholar 9. [link.springer.com]

A lifelong multidisciplinary approach is important to optimise growth and development. [ 2 ] Prognosis Early detection and treatment reduces disease-related morbidity, and can be life-saving. [ 12 ] [patient.info]

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]

Palabras clave: neurohipófisis ectópica, hipoplasia del nervio óptico, resonancia magnética Hypoplasia of the optic nerve is a rare congenital anomaly of unknown etiology that is a frequent cause of blindness in children. [elsevier.es]

The exact etiology is unknown, with an underlying genetic defect currently accounting for 9. All imaging modalities that can visualize the septum pellucidum (ultrasound, CT and MRI) will detect its absence in septo-optic dysplasia. [radiopaedia.org]

This represents a first step towards defining the ONH etiology and developing ONH prevention and treatments strategies. [grantome.com]

Keywords: strabismus: etiology • neuro–ophthalmology: optic nerve • genetics © 2004, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. [iovs.arvojournals.org]

[…] generalized hypertrichosis X-linked intellectual deficit with isolated growth hormone deficiency Synonym(s): (no synonyms) Classification (Orphanet): - Rare eye disease - Rare genetic disease Classification (ICD10): - Diseases of the eye and adnexa - Epidemiological [csbg.cnb.csic.es]

Epidemiology This is a rare condition, in the order of 1 per 100,000 of the population. [ 5 ] A study from Greater Manchester and Lancashire has identified cases being more common where high unemployment, low income and teenage pregnancies exist. [ 6 [patient.info]

History and epidemiology Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small). [ipfs.io]

History and epidemiology [ edit ] Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small). [en.wikipedia.org]

[…] changes in young children with optic nerve hypoplasia. ( 24556885 ) Sutedja J....Borchert M. 2014 44 A case of amblyopia with contralateral optic nerve hypoplasia. ( 23331175 ) Frantz K.A....Pang Y. 2013 45 Optic nerve hypoplasia syndrome: a review of the epidemiology [malacards.org]

Additional information is included concerning the pathophysiology and pathology of the disorders being discussed as well as basic information concerning the causative genes (when appropriate). [books.google.com]

The pathophysiologic basis for decussation of retinal axons is an area of active research. Pathfinding of retinal axons at the optic chiasm is incompletely understood at this time. [ajnr.org]

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]

This suggests that either there is some other pathophysiological process underlying the reduced structural integrity of their optic radiations, or that even small reductions in visual stimulation can affect the development of the optic radiations. [journals.plos.org]

This represents a first step towards defining the ONH etiology and developing ONH prevention and treatments strategies. [grantome.com]

Yet there is no treatment to prevent or repair malformation of the optic nerve. Mukherjee and his colleague Michael Fox, an associate professor at the Virginia Tech Carilion Research Institute, want to change that. [augustafreepress.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]

Funding information Supported, in part, by an unrestricted grant from Research to Prevent Blindness, Inc., New York, NY, to the Department of Ophthalmology & Visual Neurosciences at the University of Minnesota. [oatext.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]