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Papilledema

MedGen UID:
10565
Concept ID:
C0030353
Disease or Syndrome; Finding
Synonyms: Choked disk; Edema of the optic disc
SNOMED CT: Optic papillitis (73221001); Papillitis (73221001); Optic disc edema (423341008); Edema of optic disc (423341008); Optic disc swelling (248487006)
 
HPO: HP:0001085

Definition

Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. [from HPO]

Conditions with this feature

Mucopolysaccharidosis, MPS-II
MedGen UID:
7734
Concept ID:
C0026705
Disease or Syndrome
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepatosplenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome.
Benign intracranial hypertension
MedGen UID:
18732
Concept ID:
C0033845
Disease or Syndrome
Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.
Choroid plexus papilloma
MedGen UID:
64439
Concept ID:
C0205770
Neoplastic Process
Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).
Chronic infantile neurological, cutaneous and articular syndrome
MedGen UID:
98370
Concept ID:
C0409818
Disease or Syndrome
Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is an early-onset, severe, chronic inflammatory disease, characterized by cutaneous symptoms, central nervous system involvement, and arthropathy (Feldmann et al., 2002). See also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with a less severe phenotype.
Deafness, sensorineural, with peripheral neuropathy and arterial disease
MedGen UID:
343766
Concept ID:
C1852280
Disease or Syndrome
Craniodiaphyseal dysplasia, autosomal dominant
MedGen UID:
382678
Concept ID:
C2675746
Disease or Syndrome
Craniodiaphyseal dysplasia (CDD) is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).
Craniosynostosis and dental anomalies
MedGen UID:
481703
Concept ID:
C3280073
Disease or Syndrome
CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).
Bardet-Biedl syndrome 20
MedGen UID:
934674
Concept ID:
C4310707
Disease or Syndrome
Bardet-Biedl syndrome-20 (BBS20), a rare autosomal recessive disorder associated with ciliary dysfunction, is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females (Saida et al., 2014). For a general phenotypic description and discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Autosomal dominant Kenny-Caffey syndrome
MedGen UID:
1373312
Concept ID:
C4316787
Disease or Syndrome
A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.
Sclerosteosis 1
MedGen UID:
1642815
Concept ID:
C4551483
Disease or Syndrome
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease, both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to bossing of the forehead and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensory hearing loss (8th cranial nerve). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual, but not unprecedented. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent; life span appears to be normal.
Mitochondrial complex 3 deficiency, nuclear type 10
MedGen UID:
1719382
Concept ID:
C5394051
Disease or Syndrome
Osteopetrosis, autosomal recessive 9
MedGen UID:
1841123
Concept ID:
C5830487
Disease or Syndrome
Autosomal recessive osteopetrosis-9 (OPTB9) is characterized by increased bone density and bone fragility, as well as renal failure. Vision may be compromised due to compression of the optic nerve secondary to osteopetrotic stenosis of the optic nerve canal (Xue et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700).

Professional guidelines

PubMed

Wang MTM, Bhatti MT, Danesh-Meyer HV
J Clin Neurosci 2022 Jan;95:172-179. Epub 2021 Dec 17 doi: 10.1016/j.jocn.2021.11.029. PMID: 34929642
Raoof N, Hoffmann J
Cephalalgia 2021 Apr;41(4):472-478. Epub 2021 Feb 25 doi: 10.1177/0333102421997093. PMID: 33631966Free PMC Article
Dispenzieri A
Am J Hematol 2019 Jul;94(7):812-827. Epub 2019 May 23 doi: 10.1002/ajh.25495. PMID: 31012139

Recent clinical studies

Etiology

Xie JS, Donaldson L, Margolin E
Surv Ophthalmol 2022 Jul-Aug;67(4):1135-1159. Epub 2021 Nov 20 doi: 10.1016/j.survophthal.2021.11.007. PMID: 34813854
Nichani P, Micieli JA
Ophthalmol Retina 2021 May;5(5):429-437. Epub 2020 Aug 26 doi: 10.1016/j.oret.2020.08.016. PMID: 32860958
Beres SJ
Semin Neurol 2020 Jun;40(3):286-293. Epub 2020 May 18 doi: 10.1055/s-0040-1708847. PMID: 32422670
Rook BS, Phillips PH
Curr Opin Ophthalmol 2016 Sep;27(5):416-9. doi: 10.1097/ICU.0000000000000300. PMID: 27491010
Wilhelm H, Schabet M
Dtsch Arztebl Int 2015 Sep 11;112(37):616-25; quiz 626. doi: 10.3238/arztebl.2015.0616. PMID: 26396053Free PMC Article

Diagnosis

Friedman DI
Neurol Clin 2024 May;42(2):433-471. doi: 10.1016/j.ncl.2024.02.001. PMID: 38575259
Xie JS, Donaldson L, Margolin E
Surv Ophthalmol 2022 Jul-Aug;67(4):1135-1159. Epub 2021 Nov 20 doi: 10.1016/j.survophthal.2021.11.007. PMID: 34813854
Fairbanks AM, Chen JJ, Bhatti MT, Eggenberger E
Surv Ophthalmol 2022 Jul-Aug;67(4):1311-1318. Epub 2021 Mar 26 doi: 10.1016/j.survophthal.2021.03.006. PMID: 33781791
Gaier ED, Heidary G
Semin Neurol 2019 Dec;39(6):704-710. Epub 2019 Dec 17 doi: 10.1055/s-0039-1698743. PMID: 31847041
Friedman DI, Jacobson DM
Neurology 2002 Nov 26;59(10):1492-5. doi: 10.1212/01.wnl.0000029570.69134.1b. PMID: 12455560

Therapy

Markey K, Hutchcroft C, Emsley H
Curr Opin Neurol 2023 Dec 1;36(6):622-630. Epub 2023 Sep 28 doi: 10.1097/WCO.0000000000001209. PMID: 37865852
Mollan SP, Sinclair AJ
Expert Rev Neurother 2021 Jun;21(6):687-700. Epub 2021 Jun 7 doi: 10.1080/14737175.2021.1931127. PMID: 34047224
Raoof N, Hoffmann J
Cephalalgia 2021 Apr;41(4):472-478. Epub 2021 Feb 25 doi: 10.1177/0333102421997093. PMID: 33631966Free PMC Article
Wall M
Neurol Clin 2017 Feb;35(1):45-57. doi: 10.1016/j.ncl.2016.08.004. PMID: 27886895Free PMC Article
Wilhelm H, Schabet M
Dtsch Arztebl Int 2015 Sep 11;112(37):616-25; quiz 626. doi: 10.3238/arztebl.2015.0616. PMID: 26396053Free PMC Article

Prognosis

Becker KN, Nichols J
Dis Mon 2021 May;67(5):101141. Epub 2021 Feb 3 doi: 10.1016/j.disamonth.2021.101141. PMID: 33549309
Nichani P, Micieli JA
Ophthalmol Retina 2021 May;5(5):429-437. Epub 2020 Aug 26 doi: 10.1016/j.oret.2020.08.016. PMID: 32860958
Abdelhakim A, Rasool N
Curr Opin Ophthalmol 2018 Nov;29(6):514-519. doi: 10.1097/ICU.0000000000000527. PMID: 30148725
Wall M
Neurol Clin 2017 Feb;35(1):45-57. doi: 10.1016/j.ncl.2016.08.004. PMID: 27886895Free PMC Article
Wilhelm H, Schabet M
Dtsch Arztebl Int 2015 Sep 11;112(37):616-25; quiz 626. doi: 10.3238/arztebl.2015.0616. PMID: 26396053Free PMC Article

Clinical prediction guides

Hasbun R
JAMA 2022 Dec 6;328(21):2147-2154. doi: 10.1001/jama.2022.20521. PMID: 36472590
Nichani P, Micieli JA
Ophthalmol Retina 2021 May;5(5):429-437. Epub 2020 Aug 26 doi: 10.1016/j.oret.2020.08.016. PMID: 32860958
Dermarkarian CR, Kini AT, Al Othman BA, Lee AG
J Neuroophthalmol 2020 Sep;40(3):e31-e48. doi: 10.1097/WNO.0000000000000950. PMID: 32282510
Samprathi M, Jayashree M
Indian J Pediatr 2017 Oct;84(10):787-791. Epub 2017 Sep 8 doi: 10.1007/s12098-017-2456-4. PMID: 28887737
Ageno W, Dentali F
Front Neurol Neurosci 2012;30:191-4. Epub 2012 Feb 14 doi: 10.1159/000333644. PMID: 22377893

Recent systematic reviews

Tajerian A, Sofian M, Zarinfar N, Ramezani A
Int J Neurosci 2024 Jun;134(3):256-266. Epub 2022 Aug 5 doi: 10.1080/00207454.2022.2100776. PMID: 35930502
Mishra R, Konar SK, Shrivastava A, Agrawal A, Nair S
Br J Neurosurg 2023 Apr;37(2):127-136. Epub 2022 Feb 17 doi: 10.1080/02688697.2022.2039376. PMID: 35174747
Maccora I, Marrani E, Mastrolia MV, Abu-Rumeileh S, Maniscalco V, Fusco E, Barbati F, Pagnini I, Simonini G
Autoimmun Rev 2021 Nov;20(11):102944. Epub 2021 Sep 9 doi: 10.1016/j.autrev.2021.102944. PMID: 34509650
Turk MA, Hayworth JL, Nevskaya T, Pope JE
J Rheumatol 2021 Jan 1;48(1):25-34. Epub 2020 May 1 doi: 10.3899/jrheum.190768. PMID: 32358156
Russo A, Morescalchi F, Donati S, Gambicorti E, Azzolini C, Costagliola C, Semeraro F
Int Ophthalmol 2018 Apr;38(2):855-867. Epub 2017 Mar 13 doi: 10.1007/s10792-017-0489-3. PMID: 28289950

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