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Pseudopapilledema

MedGen UID:
57603
•Concept ID:
C0155300
•
Disease or Syndrome
Synonyms: Crowded optic disc; PSEUDOPAPILLEDEMA
SNOMED CT: Crowded optic disc (57138009); Pseudopapilledema (57138009)
 
HPO: HP:0000538
OMIM®: 177800
Orphanet: ORPHA519339

Definition

Apparent optic disc swelling in the absence of increased intracranial pressure. [from HPO]

Conditions with this feature

Wildervanck syndrome
MedGen UID:
120518
•Concept ID:
C0265239
•
Disease or Syndrome
Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.
See: Condition Record
Hypoparathyroidism, deafness, renal disease syndrome
MedGen UID:
374443
•Concept ID:
C1840333
•
Disease or Syndrome
HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018).
See: Condition Record
Hypoparathyroidism, deafness, renal disease syndrome
Wildervanck syndrome

Professional guidelines

PubMed

Papilledema: A review of etiology, pathophysiology, diagnosis, and management.
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
Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema.
Sibony PA, Kupersmith MJ, Kardon RH
J Neuroophthalmol 2021 Mar 1;41(1):77-92. doi: 10.1097/WNO.0000000000001078. PMID: 32909979Free PMC Article
Role of ultrasonographic optic nerve sheath diameter in the diagnosis and follow-up of papilledema and its correlation with Frisén's severity grading.
Raghunandan N, Joseph M, Nithyanandam S, Karat S
Indian J Ophthalmol 2019 Aug;67(8):1310-1313. doi: 10.4103/ijo.IJO_1827_18. PMID: 31332116Free PMC Article

Recent clinical studies

Etiology

Clinical Findings and Optical Coherence Tomography Measurements of Pediatric Patients with Papilledema and Pseudopapilledema.
Kaplan AT, Öskan Yalçın S, Güneş Sağer S
Turk J Ophthalmol 2023 Oct 19;53(5):294-300. doi: 10.4274/tjo.galenos.2023.81504. PMID: 37868142Free PMC Article
Papilledema: A review of etiology, pathophysiology, diagnosis, and management.
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
Update in Pediatric Pseudotumor Cerebri Syndrome.
Beres SJ
Semin Neurol 2020 Jun;40(3):286-293. Epub 2020 May 18 doi: 10.1055/s-0040-1708847. PMID: 32422670
Optical Coherence Tomography Angiography in Papilledema Compared With Pseudopapilledema.
Fard MA, Sahraiyan A, Jalili J, Hejazi M, Suwan Y, Ritch R, Subramanian PS
Invest Ophthalmol Vis Sci 2019 Jan 2;60(1):168-175. doi: 10.1167/iovs.18-25453. PMID: 30640969Free PMC Article
Pediatric Pseudotumor Cerebri Syndrome.
Phillips PH, Sheldon CA
J Neuroophthalmol 2017 Sep;37 Suppl 1:S33-S40. doi: 10.1097/WNO.0000000000000548. PMID: 28806347

Diagnosis

Diagnostic dilemma of papilledema and pseudopapilledema.
El-Gendy RS, El-Hamid ASA, Galhom AEA, Hassan NA, Ghoneim EM
Int Ophthalmol 2024 Jun 25;44(1):272. doi: 10.1007/s10792-024-03215-5. PMID: 38916684
Papilledema: A review of etiology, pathophysiology, diagnosis, and management.
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
Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema.
Sibony PA, Kupersmith MJ, Kardon RH
J Neuroophthalmol 2021 Mar 1;41(1):77-92. doi: 10.1097/WNO.0000000000001078. PMID: 32909979Free PMC Article
Optical Coherence Tomography to Differentiate Papilledema from Pseudopapilledema.
Rebolleda G, Kawasaki A, de Juan V, Oblanca N, Muñoz-Negrete FJ
Curr Neurol Neurosci Rep 2017 Aug 17;17(10):74. doi: 10.1007/s11910-017-0790-6. PMID: 28819712
Pediatric Pseudotumor Cerebri Syndrome.
Phillips PH, Sheldon CA
J Neuroophthalmol 2017 Sep;37 Suppl 1:S33-S40. doi: 10.1097/WNO.0000000000000548. PMID: 28806347

Therapy

Variability Within Optic Nerve Optical Coherence Tomography Measurements Distinguishes Papilledema From Pseudopapilledema.
Flowers AM, Longmuir RA, Liu Y, Chen Q, Donahue SP
J Neuroophthalmol 2021 Dec 1;41(4):496-503. doi: 10.1097/WNO.0000000000001137. PMID: 33136673
Intracranial hypertension: a current review.
Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
Stagi S, Lapi E, Pantaleo M, Carella M, Petracca A, De Crescenzo A, Zelante L, Riccio A, de Martino M
BMC Med Genet 2015 Aug 23;16:69. doi: 10.1186/s12881-015-0212-z. PMID: 26297663Free PMC Article
Post-inflammatory retinal dystrophy in CINCA syndrome.
Rigante D, Stabile A, Minnella A, Avallone L, Ziccardi L, Bersani G, Stifano G, Compagnone A, Falsini B
Rheumatol Int 2010 Jan;30(3):389-93. Epub 2009 May 8 doi: 10.1007/s00296-009-0939-y. PMID: 19424698
Pseudopapilledema of juvenile diabetes mellitus.
Lubow M, Makley TA Jr
Arch Ophthalmol 1971 Apr;85(4):417-22. doi: 10.1001/archopht.1971.00990050419004. PMID: 5554869

Prognosis

Clinical Findings and Optical Coherence Tomography Measurements of Pediatric Patients with Papilledema and Pseudopapilledema.
Kaplan AT, Öskan Yalçın S, Güneş Sağer S
Turk J Ophthalmol 2023 Oct 19;53(5):294-300. doi: 10.4274/tjo.galenos.2023.81504. PMID: 37868142Free PMC Article
Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema.
Sibony PA, Kupersmith MJ, Kardon RH
J Neuroophthalmol 2021 Mar 1;41(1):77-92. doi: 10.1097/WNO.0000000000001078. PMID: 32909979Free PMC Article
Intracranial hypertension: a current review.
Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
Optic disk drusen in children.
Chang MY, Pineles SL
Surv Ophthalmol 2016 Nov-Dec;61(6):745-758. Epub 2016 Mar 29 doi: 10.1016/j.survophthal.2016.03.007. PMID: 27033945Free PMC Article
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen.
Bassi ST, Mohana KP
Indian J Ophthalmol 2014 Dec;62(12):1146-51. doi: 10.4103/0301-4738.149136. PMID: 25579359Free PMC Article

Clinical prediction guides

The sensitivity and specificity of retinal and choroidal folds to distinguish between mild papilloedema and pseudopapilledema.
Reggie SN, Avery RA, Bavinger JC, Jivraj I, Alfaro C, Pistilli M, Kohli AA, Liu GT, Shindler KS, Ross AG, Kardon RH, Sibony PA, Tamhankar M
Eye (Lond) 2021 Nov;35(11):3131-3136. Epub 2021 Jan 19 doi: 10.1038/s41433-020-01368-y. PMID: 33469131Free PMC Article
Custom Optical Coherence Tomography Parameters for Distinguishing Papilledema from Pseudopapilledema.
Pardon LP, Cheng H, Tang RA, Saenz R, Frishman LJ, Patel NB
Optom Vis Sci 2019 Aug;96(8):599-608. doi: 10.1097/OPX.0000000000001408. PMID: 31318797Free PMC Article
Intracranial hypertension: a current review.
Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
Optical Coherence Tomography to Differentiate Papilledema from Pseudopapilledema.
Rebolleda G, Kawasaki A, de Juan V, Oblanca N, Muñoz-Negrete FJ
Curr Neurol Neurosci Rep 2017 Aug 17;17(10):74. doi: 10.1007/s11910-017-0790-6. PMID: 28819712
Optic disk drusen in children.
Chang MY, Pineles SL
Surv Ophthalmol 2016 Nov-Dec;61(6):745-758. Epub 2016 Mar 29 doi: 10.1016/j.survophthal.2016.03.007. PMID: 27033945Free PMC Article

Recent systematic reviews

Prevalence of optic disc drusen: A systematic review, meta-analysis and forecasting study.
Mukriyani H, Malmqvist L, Subhi Y, Hamann S
Acta Ophthalmol 2024 Feb;102(1):15-24. Epub 2023 May 5 doi: 10.1111/aos.15690. PMID: 37144704

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