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Optic neuropathy

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Optic nerve disorder
HPO: HP:0001138
Monarch Initiative: MONDO:0002135


Disorder of the optic nerve. [from NCI]

Conditions with this feature

Fibrous dysplasia of jaw
MedGen UID:
Concept ID:
Disease or Syndrome
Cherubism is a childhood-onset, autoinflammatory bone disease characterized by bilateral and symmetric proliferative fibroosseous lesions limited to the mandible and maxilla. The enlargement is usually symmetric in nature. The phenotype ranges from no clinical manifestations to severe mandibular and maxillary overgrowth with respiratory, vision, speech, and swallowing problems. In most affected persons, teeth are displaced, unerupted, unformed, or absent, or may appear to be floating in cystlike spaces; malocclusion, premature exfoliation of deciduous teeth, and root resorption have also been reported. The course and duration of the active process of bone destruction varies between affected individuals; the onset is usually in early childhood, and typically new lesions can occur until puberty. Regression of the lesions occurs as they become filled with bone and remodel during the second and third decade of life. By age 30 years, the facial abnormalities associated with cherubism are not usually recognizable and residual deformity of the jaws is rare. Typically, cherubism is an isolated benign condition; the affected person has normal intellectual skills and is without other physical anomalies.
Primary hyperoxaluria, type I
MedGen UID:
Concept ID:
Disease or Syndrome
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD). Age at onset of symptoms ranges from infancy to the sixth decade. Approximately 10% of affected individuals present in infancy or early childhood with nephrocalcinosis, with or without nephrolithiasis, and failure to thrive related to renal failure. The majority of individuals with PH1 present in childhood or early adolescence, usually with symptomatic nephrolithiasis and normal or reduced kidney function. The remainder of affected individuals present in adulthood with recurrent renal stones and a mild-to-moderate reduction in kidney function. The natural history of untreated PH1 is one of progressive decline in renal function as a result of calcium oxalate deposits in kidney tissue and complications of nephrolithiasis (e.g., obstruction and infection) with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD and/or complications of oxalosis.
Leber optic atrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHON in the seventh and eighth decades of life. Males are four to five times more likely to be affected than females, but neither sex nor mutational status significantly influences the timing and severity of the initial visual loss. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. Some individuals with LHON, usually women, may also develop a multiple sclerosis-like illness.
Mitochondrial complex I deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
Wolfram syndrome 2
MedGen UID:
Concept ID:
Disease or Syndrome
Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by Mozzillo et al., 2014). For a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 (222300).
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
MedGen UID:
Concept ID:
Disease or Syndrome
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Sarcoidosis, susceptibility to, 1
MedGen UID:
Concept ID:
Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
MedGen UID:
Concept ID:
Disease or Syndrome
CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic findings include mild ataxia (action tremor and gait instability following initially normal motor development; occasionally, mild spasticity), cognitive impairment in some (typically mild, rarely severe), psychiatric symptoms in some (depression and schizophrenia-like symptoms), headaches in some (usually intermittent, severe, and diffuse) and auditory symptoms in some (hearing loss, tinnitus, vertigo). Affected individuals remain ambulatory, do not require support for walking, and rarely become blind. To date CLCN2-related leukoencephalopathy has been reported or identified in 31 individuals from 30 families. It is not yet known if the findings occurring in a few individuals (i.e., epilepsy and paroxysmal kinesigenic dyskinesia) are part of the phenotypic spectrum or unrelated findings.
Mitochondrial complex 1 deficiency, nuclear type 28
MedGen UID:
Concept ID:
Disease or Syndrome
Combined oxidative phosphorylation deficiency 29
MedGen UID:
Concept ID:
Disease or Syndrome
A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.
Craniotubular dysplasia, Ikegawa type
MedGen UID:
Concept ID:
Disease or Syndrome
Craniotubular dysplasia, Ikegawa type (CTDI) is characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life (Guo et al., 2021).

Professional guidelines


Bennett JL, Costello F, Chen JJ, Petzold A, Biousse V, Newman NJ, Galetta SL
Lancet Neurol 2023 Jan;22(1):89-100. Epub 2022 Sep 22 doi: 10.1016/S1474-4422(22)00187-9. PMID: 36155661
Stein JD, Khawaja AP, Weizer JS
JAMA 2021 Jan 12;325(2):164-174. doi: 10.1001/jama.2020.21899. PMID: 33433580
Roberti G, Oddone F, Agnifili L, Katsanos A, Michelessi M, Mastropasqua L, Quaranta L, Riva I, Tanga L, Manni G
Surv Ophthalmol 2020 Jul-Aug;65(4):458-472. Epub 2020 Feb 11 doi: 10.1016/j.survophthal.2020.01.002. PMID: 32057761

Recent clinical studies


Abdul-Salam State SE, Sfredel V, Mocanu CL, Albu CV, Bălășoiu AT
Rom J Ophthalmol 2022 Oct-Dec;66(4):289-298. doi: 10.22336/rjo.2022.54. PMID: 36589322Free PMC Article
Dolman PJ
J Endocrinol Invest 2021 Mar;44(3):421-429. Epub 2020 Jul 29 doi: 10.1007/s40618-020-01361-y. PMID: 32729049
Morrow MJ
Continuum (Minneap Minn) 2019 Oct;25(5):1215-1235. doi: 10.1212/CON.0000000000000767. PMID: 31584535
Kla KM, Lee LA
Best Pract Res Clin Anaesthesiol 2016 Mar;30(1):69-77. Epub 2015 Nov 26 doi: 10.1016/j.bpa.2015.11.004. PMID: 27036604
Hayreh SS
Prog Retin Eye Res 2009 Jan;28(1):34-62. Epub 2008 Nov 27 doi: 10.1016/j.preteyeres.2008.11.002. PMID: 19063989


Dolman PJ
J Endocrinol Invest 2021 Mar;44(3):421-429. Epub 2020 Jul 29 doi: 10.1007/s40618-020-01361-y. PMID: 32729049
Morrow MJ
Continuum (Minneap Minn) 2019 Oct;25(5):1215-1235. doi: 10.1212/CON.0000000000000767. PMID: 31584535
Grzybowski A, Zülsdorff M, Wilhelm H, Tonagel F
Acta Ophthalmol 2015 Aug;93(5):402-410. Epub 2014 Aug 27 doi: 10.1111/aos.12515. PMID: 25159832
Selhorst JB, Chen Y
Semin Neurol 2009 Feb;29(1):29-35. Epub 2009 Feb 12 doi: 10.1055/s-0028-1124020. PMID: 19214930
Hayreh SS
Prog Retin Eye Res 2009 Jan;28(1):34-62. Epub 2008 Nov 27 doi: 10.1016/j.preteyeres.2008.11.002. PMID: 19063989


Barbesino G, Salvi M, Freitag SK
J Clin Endocrinol Metab 2022 Aug 8;107(Suppl_1):S47-S56. doi: 10.1210/clinem/dgac252. PMID: 36346684Free PMC Article
Davila-Siliezar P, Carter M, Milea D, Lee AG
Curr Opin Ophthalmol 2022 Nov 1;33(6):574-578. Epub 2022 Aug 24 doi: 10.1097/ICU.0000000000000891. PMID: 36066375
Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group
Ophthalmology 2021 May;128(5):649-660. Epub 2021 Jan 12 doi: 10.1016/j.ophtha.2020.12.012. PMID: 33451738
Sève P, Jamilloux Y, Tilikete C, Gerfaud-Valentin M, Kodjikian L, El Jammal T
Semin Respir Crit Care Med 2020 Oct;41(5):673-688. Epub 2020 Aug 10 doi: 10.1055/s-0040-1710536. PMID: 32777852
Hirano M, Emmanuele V, Quinzii CM
Essays Biochem 2018 Jul 20;62(3):467-481. doi: 10.1042/EBC20170114. PMID: 29980632Free PMC Article


Etminan M, Sodhi M, Mikelberg FS, Maberley D
JAMA Ophthalmol 2022 May 1;140(5):480-484. doi: 10.1001/jamaophthalmol.2022.0663. PMID: 35389459Free PMC Article
Finsterer J, Scorza FA, Scorza CA, Fiorini AC
J Neuroophthalmol 2021 Jun 1;41(2):166-169. doi: 10.1097/WNO.0000000000001273. PMID: 33999887
Roberti G, Oddone F, Agnifili L, Katsanos A, Michelessi M, Mastropasqua L, Quaranta L, Riva I, Tanga L, Manni G
Surv Ophthalmol 2020 Jul-Aug;65(4):458-472. Epub 2020 Feb 11 doi: 10.1016/j.survophthal.2020.01.002. PMID: 32057761
DelMonte DW, Bhatti MT
Int Ophthalmol Clin 2009 Summer;49(3):35-62. doi: 10.1097/IIO.0b013e3181a8df6c. PMID: 19584621
Mindel JS
Am Heart J 2008 Sep;156(3):411-3. Epub 2008 Jul 7 doi: 10.1016/j.ahj.2008.05.007. PMID: 18760119

Clinical prediction guides

Chen B, Zhang H, Zhai Q, Li H, Wang C, Wang Y
Neurosurg Rev 2022 Jun;45(3):1895-1913. Epub 2022 Jan 16 doi: 10.1007/s10143-021-01717-9. PMID: 35034261
Fard MA, Moghimi S, Sahraian A, Ritch R
Br J Ophthalmol 2019 Mar;103(3):374-378. Epub 2018 May 23 doi: 10.1136/bjophthalmol-2018-312161. PMID: 29793928
Lochhead J
Eye (Lond) 2015 Sep;29(9):1233-5. Epub 2015 Jul 3 doi: 10.1038/eye.2015.119. PMID: 26139049Free PMC Article
Bernstein SL, Johnson MA, Miller NR
Prog Retin Eye Res 2011 May;30(3):167-87. Epub 2011 Mar 2 doi: 10.1016/j.preteyeres.2011.02.003. PMID: 21376134Free PMC Article
Lee LA, Newman NJ, Wagner TA, Dettori JR, Dettori NJ
Spine (Phila Pa 1976) 2010 Apr 20;35(9 Suppl):S105-16. doi: 10.1097/BRS.0b013e3181d8344d. PMID: 20407342

Recent systematic reviews

Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN
Genet Med 2022 Mar;24(3):521-534. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.013. PMID: 34906485
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Feldman-Billard S, Dupas B
Diabetes Metab 2021 Nov;47(6):101279. Epub 2021 Sep 14 doi: 10.1016/j.diabet.2021.101279. PMID: 34534696
Allegrini D, Pagano L, Ferrara M, Borgia A, Sorrentino T, Montesano G, Angi M, Romano MR
Int Ophthalmol 2020 Aug;40(8):2119-2127. Epub 2020 May 7 doi: 10.1007/s10792-020-01365-w. PMID: 32383130
Law SK, Wang L, Li T
Cochrane Database Syst Rev 2020 Feb 7;2(2):CD006030. doi: 10.1002/14651858.CD006030.pub4. PMID: 32032457Free PMC Article

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