History

Fact Explanation
Introduction Aetiology of optic atrophy may be hereditary, [1] vascular, demyelinating, compression, inflammation or trauma. Primary optic atrophy is associated with conditions like optic nerve, pitutary tumor, [12] multiple sclerosis , traumatic optic neuropathy,etc. Secondary optic atrophy is due to the papilledema/ papillitis. [11] Consecutive optic atrophy is associated with retinitis pigmentosa, myopia and central retinal artery occlusion.
Impaired vision Rapid onset of visual loss is usually due to optic neuritis, ischemic optic neuropathy, inflammatory (non-demyelinating) and traumatic optic neuropathy. Gradual onset over months is associated with compressive toxic/nutritional optic neuropathy and over years is due to compressive and hereditary optic neuropathies. [7] Optic neuritis usually presents with acute unilateral blurring of vision, transient vision impairments. [4] Diplopia may presents with multiple sclerosis. Dyschromatopsia may be the earliest sign of toxicity, and blue-yellow color changes are common. [5]
Ocular or orbital pain Ocular or orbital pain is associated with optic neuritis due to optic nerve edema. [4]
Diplopia Diplopia may be associated with arteritic ischemic optic neuropathy (AION) due to giant cell arteritis (GCA) and if associated with facial pain is suggestive of multiple cranial neuropathies due to inflammatory or malignancies of the posterior orbit or parasellar region. [7]
Family history Autosomal dominant optic atrophy is a genetically heterogeneous condition, associated with a genetic mutation in the OPA1 on 3q28. [1] Leber’s hereditary optic neuropathy and dominant optic atrophy have mitochondrial etiology. [5]
History of meningitis Optic neuritis, perineuritis secondary to inflammation of the meninges can lead to postinflammatory atrophy. Lowering increased intracranial pressure, is particularly important in reducing the optic atrophy and visual loss. [2]
Hearing loss Mutations in WFS1 gene and OPA1 gene may lead to combined autosomal dominant optic atrophy with impaired hearing. [1]
Nausea, vomiting, headaches, emotional lability and impaired memory Foster Kennedy syndrome is a condition associated with clinical triad of optic atrophy in one eye, papilledema in the contralateral eye, and anosmia. It is caused by caused by space-occupying anterior fossa masses and is associated with symptoms of raised intracranial pressure and features due to the frontal lobe involvement. [3]
Features of multiple sclerosis Multiple sclerosis is associated with sensory, motor, cerebellar and urinary bladder symptoms. Other symptoms such as vertigo may be due to proximity of the oculomotor area to the equilibrium area. [4]
Polydypsia, polyuria Metabolic atrophy is occurred due to these diseases. Wolfram syndrome is a condition associated with nonautoimmune diabetes and optic atrophy with the onset in first decade and later development of diabetes insipidus and deafness. [8]
History of thyroid disease: excessive sweating, increased appetite, heat intolerance etc. Thyroid eye disease is a autoimmune condition associated with orbital inflammatory reaction typically manifesting in middle age. Inflammation and proliferation of tissue will cause expansion of orbital tissues leading to optic nerve damage. [7]
Use of tobacco, methyl alcohol, and Anterior visual pathway is can get damaged by various toxins causing toxic optic neuropathy. [5] Intoxication by accidental or suicidal ingestion of products containing methanol may lead to alcohol induced optic neuropathies. [5] Long term use of alcohol and tobacco mau cause vitamin B12 or folate deficiency. [5]
Use of drugs (eg, ethambutol, sulphonamides, amiodarone) These mat cause metabolic atrophy of optic nerve. Amiodarone like drugs may cause disc swelling that may progress to optic nerve pallor. [5] Symptoms of eye damage usually starts 2–8 months after the use in ehambutol. [5]
Poor nutrition Deficiency of thiamine (vitamin B1), cyanocobalamin (vitamin B12), pyridoxine (vitamin B6), niacin (vitamin B3), riboflavin (vitamin B2), and/or folic acid will damage the optic nerve causing nutritional optic neuropathy. [5]
History of infection Viral (herpes virus, cytomegalovirus, West Nilevirus, human T-cell lymphotropic virus (HTLV-1), acquired immunodeficiency syndrome (AIDS), subacute sclerosing panencephalitis (SSPE), bacterial (cat-scratch disease, Whipple’s disease), mycobacterial (tuberculosis, leprosy) and spirochetal (lyme, syphilis) infections are known to cause optic nerve abnormalities. Nearly 5% of tertiary neuro-syphilis patients swill have optic atrophy as a complication. [5]
History of glaucoma Glaucoma will be associated with optic atrophy even in the presence of normal eye pressure. [9] Ischaemic optic neuropathy may result in chronic glaucoma patients. [10]
References
  1. EIBERG H, HANSEN L, KJER B, HANSEN T, PEDERSEN O, BILLE M, ROSENBERG T, TRANEBJæRG L. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene J Med Genet [online] 2006 May, 43(5):435-440 [viewed 13 October 2014] Available from: doi:10.1136/jmg.2005.034892
  2. MILMAN T, MIRANI N, TURBIN RE. Optic nerve sheath fenestration in cryptococcal meningitis Clin Ophthalmol [online] 2008 Sep, 2(3):637-639 [viewed 13 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694014
  3. SHAO EH, GALLAGHER K, MALIK N. A 44-year-old woman with a 3-month history of bilateral, painless visual loss in the absence of other symptoms Digit J Ophthalmol [online] , 18(4):12-14 [viewed 13 October 2014] Available from: doi:10.5693/djo.03.2012.12.001
  4. ALLEGRI P, RISSOTTO R, HERBORT CP, MURIALDO U. CNS Diseases and Uveitis J Ophthalmic Vis Res [online] 2011 Oct, 6(4):284-308 [viewed 13 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306114
  5. SHARMA P, SHARMA R. Toxic optic neuropathy Indian J Ophthalmol [online] 2011, 59(2):137-141 [viewed 13 October 2014] Available from: doi:10.4103/0301-4738.77035
  6. GUPTA PK, ASRANI S, FREEDMAN SF, EL-DAIRI M, BHATTI MT. Differentiating Glaucomatous from Non-Glaucomatous Optic Nerve Cupping by Optical Coherence Tomography Open Neurol J [online] :1-7 [viewed 13 October 2014] Available from: doi:10.2174/1874205X01105010001
  7. BOTHUN ED, SCHEURER RA, HARRISON AR, LEE MS. Update on thyroid eye disease and management Clin Ophthalmol [online] 2009:543-551 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770865
  8. D'ANNUNZIO G, MINUTO N, D'AMATO E, DE TONI T, LOMBARDO F, PASQUALI L, LORINI R. Wolfram Syndrome (Diabetes Insipidus, Diabetes, Optic Atrophy, and Deafness): Clinical and genetic study Diabetes Care [online] 2008 Sep, 31(9):1743-1745 [viewed 14 October 2014] Available from: doi:10.2337/dc08-0178
  9. PICKARD R. Cavernous Optic Atrophy and its Relation to Glaucoma Proc R Soc Med [online] 1925, 18(Sect Ophthalmol):15-16 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2202478
  10. BEGG IS, DRANCE SM, SWEENEY VP. Ischaemic optic neuropathy in chronic simple glaucoma. Br J Ophthalmol [online] 1971 Feb, 55(2):73-90 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1208145
  11. TEH LS, O'CONNOR GM, O'SULLIVAN MM, PANDIT JC, BECK L, WILLIAMS BD. Recurrent papilloedema and early onset optic atrophy in Beh?et's syndrome. Ann Rheum Dis [online] 1990 Jun, 49(6):410-411 [viewed 20 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1004113
  12. FINGER PT, KHOOBEHI A, PONCE-CONTRERAS MR, ROCCA DD, GARCIA JP JR. Three dimensional ultrasound of retinoblastoma: initial experience Br J Ophthalmol [online] 2002 Oct, 86(10):1136-1138 [viewed 20 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771307

Examination

Fact Explanation
Visual acuity Visual acuity is usually diminished and there may be no light perception in the affected eye. [1] Visual acuity can be normal most of the time as the central visual field is spared. [3]
Colour vision Ishihara color plates or the American Optical Hardy-Ritter-Rand (AOHRR) pseudoisochromatic color plates are used to assess the colour vision. Dyschromatopsia is seen in some patients and colour vision may be normal in ischemic optic neuropathies. [3]
Visual field defects Central or cecocentral scotomas, are seen in toxic/nutritional and hereditary optic neuropathies. [3] Central or scotoma with preservation of the peripheral field are characteristic of toxic optic neuropathies. [2] Altitudinal defects are more common in ischemic optic neuropathies. [3]
Pupil examination There is no relative afferent papillary defect and size and the reactivity of the pupils to the light is normal. [1]
Fundus examination Optic disc will be pale in patients with optic atrophy. [1] Non-arteritic ischemic optic neuropathy associated with diabetes, hypertension and hypercholesterolemia and other inflammatory neuropathies are present with swollen optic disc and presence of hemorrhages and exudates. Majority of demyelinating optic neuritis will have normal optic disc. [3] Diffuse pallid or “chalky white” swelling with cotton wool spots are seen in arteritic ischemic optic neuropathy due to giant cell arteritis Toxic/nutritional and hereditary optic neuropathies usually causes a temporal pallor of the disc. [3] Fundus will have slit-like or wedge-shaped defects in the peripapillary nerve fiber layer in the presence of optic atrophy. [3]
Optic disc cupping Cupping of the optic nerve head is seen in congenital optic disc anamolies, compressive optic neuropathy from large intra-cranial aneurysms or masses, hereditary optic neuropathy, radiation optic neuropathy and methanol poisoning. [3] Non-glaucomatous cupping will be indicated by pallor of the neuro-retinal rim. [3]
Relative afferent papillary defect (RAPD) This is a classic sign of optic neuropathy. It can be detected by performing the swinging light-pupil test. [3]
Papilledema Papilledema may cause increased pressure over the optic nerve leading to optic atrophy. But pilledema does not occur in optic atrophy as there are lack of neurons to swell following loss of neural fibers. [1]
Focal limb weakness, increased tone and reflexes Foster Kennedy syndrome is a condition consists of clinical triad: optic atrophy in one eye, papilledema in the contralateral eye, and anosmia, and is caused by a space-occupying anterior fossa masses. [1]
Proptosis, chemosis Thyroid eye disease causes inflammatory eye disease and is associatedpermanent optic atrophy and visual loss particularly if no treatment is given at an early stage of the disease. [4]
References
  1. SHAO EH, GALLAGHER K, MALIK N. A 44-year-old woman with a 3-month history of bilateral, painless visual loss in the absence of other symptoms Digit J Ophthalmol [online] , 18(4):12-14 [viewed 13 October 2014] Available from: doi:10.5693/djo.03.2012.12.001
  2. SHARMA P, SHARMA R. Toxic optic neuropathy Indian J Ophthalmol [online] 2011, 59(2):137-141 [viewed 13 October 2014] Available from: doi:10.4103/0301-4738.77035
  3. BEHBEHANI R. Clinical approach to optic neuropathies Clin Ophthalmol [online] 2007 Sep, 1(3):233-246 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701125
  4. BOTHUN ED, SCHEURER RA, HARRISON AR, LEE MS. Update on thyroid eye disease and management Clin Ophthalmol [online] 2009:543-551 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770865

Differential Diagnoses

Fact Explanation
Axial myopia Myelinated retinal nerve fibers may blur retinal images causing visual deprivation leading to myopia with axial enlargement. They present with progressive ocular deviation, refractive error and visual acuity, fundus examination are normal with negative relative afferent pupillary defect. [3]
Non-arteritic ischemic optic neuropathy Patients are usually over 50 years old and have risk factors such as diabetes, hypertension, hypercholesterolemia and smoking. The visual field defect is usually inferonasal arcuate or altitudinal. Small cup-to-disc ratio is observed in the other eye. Severe disc edema with hemorrhages are seen. [1]
Optic nerve congenital anomalies Congenital anamoly of the optic nerve such as optic nerve hypopolasia, optic nerve coloboma, morning-glory disc anamoly and optic nerve drusen will be seen as anamolous optic nerve. [1]
Optic nerve pit Optic disc pit is a rare condition due to the incomplete closure of the inferior of the embryonic fissure and is an excavation of the optic nerve in association with other abnormalities of the optic nerve such as peripapillary retina or posterior vitreous detachment. [2] They present with painless, progressive reduction of central vision associated with a large optic nerve head, inferior colobomata of the optic disc, and inferonasal retinal colobomata. [2] Pupil examination, visual acuity and intraocular pressure may be normal.
Multiple sclerosis Optic neuritis can be the initial manifestation of multiple sclerosis. It causes acute demyelinating optic neuritis and is more common in females with a peak age of onset between 30–40 years. [1] They will have other motor, sensory manifestations as well. Axial MRI of the brain will show classic periventricular white matter lesions and sagittal MRI will show peri-collosal white matter lesions- “Dawson’s fingers”. [1]
References
  1. BEHBEHANI R. Clinical approach to optic neuropathies Clin Ophthalmol [online] 2007 Sep, 1(3):233-246 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701125
  2. DIAB F, AL-SABAH K, AL-MUJAINI A. Successful Surgical Management of Optic Disc Pit Maculopathy Without Internal Membrane Peeling Middle East Afr J Ophthalmol [online] 2010, 17(3):278-280 [viewed 14 October 2014] Available from: doi:10.4103/0974-9233.65495
  3. MORADIAN S, KARIM S. Unilateral Myelinated Retinal Nerve Fiber Layer Associated with Axial Myopia,Amblyopia and Strabismus J Ophthalmic Vis Res [online] 2009 Oct, 4(4):264-265 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498866

Investigations - for Diagnosis

Fact Explanation
Optical coherence tomography (OCT) OCT uses low coherence light to penetrate tissue that is later analyzed to a reflected image. Peripapillary nerve fiber layer thickening can be visualized and can do the follow up resolution of disc edema. [2]
Visual evoked response [1] VEPs measure the cortical activity in response to flash or pattern stimulus. [2] Visual evoked response P100 wave amplitude is markedly reduced with normal to near normal latency in patients of tobacco alcohol amblyopia. [1]
Contrast sensitivity Contrast sensitivity is usually reduced in these patients. Perri-robson charts can be useful. [2]
Anti-nuclear antibody (ANA) and anticardiolipin antibody Auto-immune optic neuropathy is seen in association with systemic auto-immune and infectious disorders such as sarcoidosis, systemic lupus erythematosus, Behcet’s disease. [2]
Computer tomography scan of brain CT scan will demonstrate any anterior cranial fossa floor masses like meningioma that causes optic atrophy. [3] Any abnormality in the globes, optic nerves, extraocular muscles, or any intraconal structure in either orbit can also be visualized. Noncontrast CT scan will be helpful in trauma situations.
Ultrasound scan Ultrasound scan is able to identify lesions of the optic nerve/ cavity tumors etc. 3D ultrasonography is useful in making a diagnosis of retinoblastoma which will be evident as an endophytic mass, retinal detachment, intratumoural calcifications, and secondary orbital shadowing. [5] It is also important to exclude the other differential diagnoses such as optic nerve head drusen as ultrasound B scan is sensitive in detecting such lesions. [4]
References
  1. SHARMA P, SHARMA R. Toxic optic neuropathy Indian J Ophthalmol [online] 2011, 59(2):137-141 [viewed 13 October 2014] Available from: doi:10.4103/0301-4738.77035
  2. BEHBEHANI R. Clinical approach to optic neuropathies Clin Ophthalmol [online] 2007 Sep, 1(3):233-246 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701125
  3. SHAO EH, GALLAGHER K, MALIK N. A 44-year-old woman with a 3-month history of bilateral, painless visual loss in the absence of other symptoms Digit J Ophthalmol [online] , 18(4):12-14 [viewed 13 October 2014] Available from: doi:10.5693/djo.03.2012.12.001
  4. MEGUR B, MEGUR D, MEGUR U, REDDY S. Anterior ischemic optic neuropathy in association with optic nervehead drusen Indian J Ophthalmol [online] 2014 Jul, 62(7):829-831 [viewed 20 October 2014] Available from: doi:10.4103/0301-4738.138636
  5. FINGER PT, KHOOBEHI A, PONCE-CONTRERAS MR, ROCCA DD, GARCIA JP JR. Three dimensional ultrasound of retinoblastoma: initial experience Br J Ophthalmol [online] 2002 Oct, 86(10):1136-1138 [viewed 20 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771307

Investigations - Fitness for Management

Fact Explanation
Glucose tolerance tests and blood pressure checking Metabolic atrophy is occurred due to diseases like diabetes insipidus and hypertension. Wolfram syndrome is a condition associated with nonautoimmune diabetes and optic atrophy. [2]
Full blood count To detect any underlying infection [1] as bacterial infections may cause increased white cell count (leucocytosis) and elevated lymphocyte count (lymphocytosis).
References
  1. BEHBEHANI R. Clinical approach to optic neuropathies Clin Ophthalmol [online] 2007 Sep, 1(3):233-246 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701125
  2. D'ANNUNZIO G, MINUTO N, D'AMATO E, DE TONI T, LOMBARDO F, PASQUALI L, LORINI R. Wolfram Syndrome (Diabetes Insipidus, Diabetes, Optic Atrophy, and Deafness): Clinical and genetic study Diabetes Care [online] 2008 Sep, 31(9):1743-1745 [viewed 14 October 2014] Available from: doi:10.2337/dc08-0178

Investigations - Followup

Fact Explanation
Optical coherence tomography (OCT) This is important to monitor patients on ethambutol to see any evidence of optic neuropathy as it can quantify the loss of retinal nerve fibers as a sign of early toxicity. [1]
Visual evoked potential (VEP) VEP is usuful in detecting the early or sub-clinical optic neuropathy even in the presence of normal pupillary responses and no optic disc changes. In demyelinating disease it is used to detect occult optic nerve dysfunction. [2]
References
  1. SHARMA P, SHARMA R. Toxic optic neuropathy Indian J Ophthalmol [online] 2011, 59(2):137-141 [viewed 13 October 2014] Available from: doi:10.4103/0301-4738.77035
  2. BEHBEHANI R. Clinical approach to optic neuropathies Clin Ophthalmol [online] 2007 Sep, 1(3):233-246 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701125

Investigations - Screening/Staging

Fact Explanation
Computed tomography (CT) of the head and orbits CT scan will demonstrate any anterior cranial fossa floormasses like meningioma that causes optic atrophy. [1] Any abnormality in the globes, optic nerves, extraocular muscles, or any intraconal structure in either orbit can also be visualized.
Magnetic resonance imaging (MRI) Magnetic resonance imaging (MRI) in multiple sclerosis will show hyperintense round/oval demyelinating lesions mainly in periventricular areas on T2-weighted sequences. Axonal damage may accompany the demyelinating lesion. [1]
Vitamin levels Vitamin deficiencysuch as thiamine (vitamin B1), cyanocobalamin (vitamin B12), pyridoxine (vitamin B6), niacin (vitamin B3), riboflavin (vitamin B2), and/or folic acid hmay cause nutritional optic neuropathy. [3]
Blood and urine screening for specific toxins Done where a specific intoxicant is suspected. [3]
Staging the disease Primary optic atrophy [4] may be associated with optic nerve, pitutary tumor, [6] multiple sclerosis , traumatic optic neuropathy,etc. Secondary optic atrophy is seen in association with papilledema, papillitis. [5] Fundus in the patient with early disease will usually show optic disc edema associated with characteristic prominent, dilated and frequently telangiectatic vessels over the disc. [2]
References
  1. SHAO EH, GALLAGHER K, MALIK N. A 44-year-old woman with a 3-month history of bilateral, painless visual loss in the absence of other symptoms Digit J Ophthalmol [online] , 18(4):12-14 [viewed 13 October 2014] Available from: doi:10.5693/djo.03.2012.12.001
  2. HAYREH SS. Management of ischemic optic neuropathies Indian J Ophthalmol [online] 2011, 59(2):123-136 [viewed 20 October 2014] Available from: doi:10.4103/0301-4738.77024
  3. SHARMA P, SHARMA R. Toxic optic neuropathy Indian J Ophthalmol [online] 2011, 59(2):137-141 [viewed 13 October 2014] Available from: doi:10.4103/0301-4738.77035
  4. KUMAR N, SINGH A, SAXENA R, MENON V, SHARMA S. An unusual cause of optic atrophy in a child Indian J Ophthalmol [online] 2014 Apr, 62(4):494-495 [viewed 20 October 2014] Available from: doi:10.4103/0301-4738.132111
  5. TEH LS, O'CONNOR GM, O'SULLIVAN MM, PANDIT JC, BECK L, WILLIAMS BD. Recurrent papilloedema and early onset optic atrophy in Beh?et's syndrome. Ann Rheum Dis [online] 1990 Jun, 49(6):410-411 [viewed 20 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1004113
  6. FINGER PT, KHOOBEHI A, PONCE-CONTRERAS MR, ROCCA DD, GARCIA JP JR. Three dimensional ultrasound of retinoblastoma: initial experience Br J Ophthalmol [online] 2002 Oct, 86(10):1136-1138 [viewed 20 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771307

Management - General Measures

Fact Explanation
Early detection in high risk groups A sthere is no proven treatment for optic atrophy, early measures are important in saving the vision. High risk people for developing optic atrophy eg:[ patients on ethambutol treatment may need follow up and stopping the drug may be required as there is no other specific treatment. [1]
Management of toxic induced optic atrophy First is to remove the offending agent and medical therapy with vitamin supplementation may be required in tobacco alcohol amblyopia. [1] Patients are be monitored initially every 4–6 weeks and later 6–12 months. [1]
Management of other comorbodoties Thyroid disorders, diabetes mellitus and other vascular risk factors need specific management. Early interventions are needed in these diseases inorder to prevent optic atrophy. [3]
Prophylactic therapies Brimonidine is a topical α-2 agonist usually used to lower intraocular pressure in the management of glaucoma.Studies have shown that the topical brimonidine can be used as a prophylactic agent for second-eye involvement in Leber hereditary optic neuropathy. [2]
Patient education Patient has to be educated about the nature of the disease, complications and particularly about the fact that there is no specific treatment. [1]
Supportive management The sudden onset of severe visual loss in may be distressing for patients and their families. Therefore psychological support, patient support groups and managing the associated neurological sequalae are important. [2]
Occupational therapy Occupational therapy is also important for these patient as they are not able to do the previous jobs they used to do previously. Provision of low-vision aids, occupational therapy and social services to the affected patients is helpful particularly at latter stage of disease. [4,5]
Genetic councelling Male Leber hereditary optic neuropathy carriers can be reassured as the mitochondrial genome has a maternal inheritance. [2] But, female carriers will transmit the mutation to all their children. [2]
Follow up Visual acuity, pupils, optic nerves, color vision, and visual fields should be assessed regularly to detect the progression of the condition. [1]
References
  1. SHARMA P, SHARMA R. Toxic optic neuropathy Indian J Ophthalmol [online] 2011, 59(2):137-141 [viewed 13 October 2014] Available from: doi:10.4103/0301-4738.77035
  2. YU-WAI-MAN P, VOTRUBA M, MOORE AT, CHINNERY PF. Treatment strategies for inherited optic neuropathies: past, present and future Eye (Lond) [online] 2014 May, 28(5):521-537 [viewed 14 October 2014] Available from: doi:10.1038/eye.2014.37
  3. BOTHUN ED, SCHEURER RA, HARRISON AR, LEE MS. Update on thyroid eye disease and management Clin Ophthalmol [online] 2009:543-551 [viewed 14 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770865
  4. ABU-AMERO KK. Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited Middle East Afr J Ophthalmol [online] 2011, 18(1):17-23 [viewed 20 October 2014] Available from: doi:10.4103/0974-9233.75880
  5. YU-WAI-MAN P, CHINNERY PF, PAGON RA, ADAM MP, ARDINGER HH, BIRD TD, DOLAN CR, FONG CT, SMITH RJH, STEPHENS K. Leber Hereditary Optic Neuropathy [online] 1993 [viewed 20 October 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/20301353

Management - Specific Treatments

Fact Explanation
Seroids Steroids are shown to be effective in treating optic neuritis and arteritic anterior ischemic optic neuropathy. Intravenous steroids make recovery of vision faster compared to oral steroids. [1] Intravenous methylprednisolone (250 mg, 6 hourly) for 3 days, is followed by oral prednisolone (1 mg\kg\d) and then gradually tapered. [1]
Idebenone Idebenone, a short-chain benzoquinone structurally related to CoQ10 that is used to treat the Leber hereditary optic neuropathy. [3] It enters the brain, localizes to the mitochondria and then stimulates net ATP production. It is also a potent free radical scavenger protecting the mitochondrial membrane against lipid peroxidation. [2] The most common side effects are flu-like symptoms, including myalgia, fever, fatigue, headache, chills, nausea, vomiting, pain and asthenia. [1] Neutropeniais a rare side-effect of idebenone. [2]
Stem cell treatment Stem cells are undifferentiated cells that have the ability to differentiate into mature cells. [4] They are highly proliferative. Mesenchymal stem cells are stromal progenitor cells of mesodermal origin. [4] Stem cell therapy is used to treat the optic atrophy particularly due to the hereditary causes as autosomal dominant optic atrophy and Leber hereditary optic neuropathy. [5]
Hyperbaric oxygen therapy and near-infrared light therapy Hyperbaric oxygen therapy is proposed as a treatment for Leber hereditary optic neuropathy with the aim of improving mitochondrial biogenesis. [5] Near-infrared light (NIR) therapy improves the mitochondrial function and cellular survival in neurodegeneration and methanol-induced retinal toxicity. [5]
References
  1. MENON V, SAXENA R, MISRA R, PHULJHELE S. Management of optic neuritis Indian J Ophthalmol [online] 2011, 59(2):117-122 [viewed 14 October 2014] Available from: doi:10.4103/0301-4738.77020
  2. NEWMAN NJ. Treatment of Leber hereditary optic neuropathy Brain [online] 2011 Sep, 134(9):2447-2450 [viewed 14 October 2014] Available from: doi:10.1093/brain/awr192
  3. RUDOLPH G, DIMITRIADIS K, BüCHNER B, HECK S, AL-TAMAMI J, SEIDENSTICKER F, RUMMEY C, LEINONEN M, MEIER T, KLOPSTOCK T. Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic Neuropathy J Neuroophthalmol [online] 2013 Mar, 33(1):30-36 [viewed 14 October 2014] Available from: doi:10.1097/WNO.0b013e318272c643
  4. NG TK, FORTINO VR, PELAEZ D, CHEUNG HS. Progress of mesenchymal stem cell therapy for neural and retinal diseases World J Stem Cells [online] 2014 Apr 26, 6(2):111-119 [viewed 14 October 2014] Available from: doi:10.4252/wjsc.v6.i2.111
  5. YU-WAI-MAN P, VOTRUBA M, MOORE AT, CHINNERY PF. Treatment strategies for inherited optic neuropathies: past, present and future Eye (Lond) [online] 2014 May, 28(5):521-537 [viewed 14 October 2014] Available from: doi:10.1038/eye.2014.37