• Users Online: 180
  • Print this page
  • Email this page

 Table of Contents  
Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 186-187

Commentary: Progressive optic neuropathy secondary to JAK 2 mutation positive myeloproliferative neoplasm

Department of Ophthalmology, School of Medical Sciences and Research, Sharda University, Greater Noida, Uttar Pradesh, India

Date of Web Publication07-Jan-2022

Correspondence Address:
Dr. Jawahar L Goyal
Department of Ophthalmology, School of Medical Sciences and Research, Sharda University, Greater Noida - 201 306, Uttar Pradesh
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_2367_21

Rights and Permissions

How to cite this article:
Goyal JL, Singh S. Commentary: Progressive optic neuropathy secondary to JAK 2 mutation positive myeloproliferative neoplasm. Indian J Ophthalmol Case Rep 2022;2:186-7

How to cite this URL:
Goyal JL, Singh S. Commentary: Progressive optic neuropathy secondary to JAK 2 mutation positive myeloproliferative neoplasm. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Jan 23];2:186-7. Available from: https://www.ijoreports.in/text.asp?2022/2/1/186/334934

Myeloproliferative neoplasms (MPNs) are a group of hematological disorders characterized by clonal proliferation of all hematopoietic bone marrow elements, causing a state of hyperviscosity and thrombocytosis. The cardinal mutations seen in MPNs are JAK2, CALR, or MPL. The JAK2 mutation-positive myeloproliferative neoplasms (MPNs) include essential thrombocytosis (ET), polycythemia Vera (PV), and primary myelofibrosis (PMF). JAK2 mutation-positive MPNs may have different proportions of thrombocytosis, leucocytosis, and anemia or erythrocytosis. MPNs have a higher incidence of vascular thrombosis in different organ systems. Increased incidence of venous thrombosis at uncommon sites is sometimes seen in MPNs, especially in JAK2 positivity, with a relatively rare complication of cerebral venous sinus thrombosis (CVST).[1] These patients may show symptoms of increased intracranial pressure, such as headache, vomiting, and papilledema. MR angiography depicts occlusion of superior sagittal sinus, straight sinus, and bilateral transverse sinus, as has been seen in the case reported.

Ocular involvement in MPNs with JAK 2 positive mutation is a relatively rare occurrence. Eye structures can be involved directly or indirectly. Indirect involvement occurs mainly due to hematological abnormalities of the MPNs, such as thrombocytosis, leukocytosis, and erythrocytosis or anemia. This can lead to microvascular circulation disturbances caused by hyperviscosity or aggregation and spontaneous activation of platelets and leukocytes, which result in more severe ocular and vision-threatening manifestations such as thrombotic events (e.g., arterial or venous occlusion).

Such microvascular disturbances can also cause inadequate cerebral perfusion and consequently, possible visual symptoms such as amaurosis fugax, scotomas, monocular vision loss, hemianopsia, blurring, and hallucinations. These neuro-ophthalmological manifestations are often described as visual symptoms related to atypical transient ischemic attacks (TIAs) or migraine-like ischemic attacks (MIAs). Symptoms disappear when elevated blood elements are normalized by treatment.[2],[3],[4] Involvement of orbit and lacrimal gland in the eye with extramedullary hematopoietic tumors is described sparsely in the literature.[5],[6] Simultaneous hemorrhage and infarction of the conjunctiva and intraconal space have also been reported in an essential thrombocytosis patient.[7] A case of paraneoplastic infiltration of the uveal tract resulting in narrow angle closure glaucoma has also been reported.[8]

A posterior segment may show hemorrhages, venous dilatation and tortuosity, cotton wool spots, peripheral neovascularization, Roth spots, AMD, nerve fiber layer thinning, and neuronal hypofunction.[9],[10] Microvascular circulation disturbances can cause ischemia of the optic nerve, leading to ischemic optic neuropathy. Direct involvement of the eye is less common but can occur. Rarely, direct infiltration of optic nerve sheath by neoplastic cells may occur and will need optic nerve sheath biopsy for confirmation. Ohtsubo et al.[11] described a case of extramedullary hematopoiesis.

As discussed in the case report, the patient had CVST, which resulted in increased ICP, causing papilledema leading to post papilledemic optic atrophy, which could not be reverted back even after shunt and optic nerve sheath fenestration and anticoagulant therapy. However, in the literature, there are few reported cases of JAK 2 positive MPNs with CVST and papilledema and decreased vision that improved on anticoagulation therapy or sinus surgeries.[12] As these patients are at increased risk of thrombosis, they should be prescribed anticoagulation drugs for life. A regular follow-up is a must for these patients.

Ophthalmologists should be more cautious in patients of MPNs presenting with headache, TIA, and papilledema, especially in cases with JAK2 mutation-positive, because these patients can suffer irreversible vision loss and the condition can be life-threatening if they develop CVST.

  References Top

Kurosawa H, Okuya M, Matsushita T, Kubota T, Endoh K, Kuwashima S, et al. JAK2V617F mutation-positive childhood essential thrombocythemia associated with cerebral venous sinus thrombosis. J Pediatr Hematol Oncol 2009;31:678-80.  Back to cited text no. 1
Michiels JJ, Koudstaal PJ, Mulder AH, van Vliet HH. Transient neurologic and ocular manifestations in primary thrombocythemia. Neurology 1993;43:1107-10.  Back to cited text no. 2
Jabaily J, Iland HJ, Laszlo J, Massey EW, Faguet GB, Bri&# 232;re J, et al. Neurologic manifestations of essential thrombocythemia. Ann Intern Med 1983;99:513-8.  Back to cited text no. 3
Jensen MK, de Nully Brown P, Lund BV, Nielsen OJ, Hasselbalch HC. Increased platelet activation and abnormal membrane glycoprotein content and redistribution in myeloproliferative disorders. Br J Haematol 2000;110:116-24.  Back to cited text no. 4
Yuen HKL, Mahesh L, Tse RKK, Yau KC, Chan N, Lam DSC. Orbital sclerosing extramedullary hematopoietic tumor. Arch Ophthalmol 2005;123:689-91.  Back to cited text no. 5
Sohawon D, Lau KK, Lau T, Bowden DK. Extra-medullary haematopoiesis: A pictorial review of its typical and atypical locations. J Med Imaging Radiat Oncol 2012;56:538-44.  Back to cited text no. 6
Na J, Choi SY, Baek S, Lee H. Hemorrhage and infarction of the conjunctiva and orbit in essential thrombocythemia. J Craniofac Surg 2017;28:750-1.  Back to cited text no. 7
Lin AL, Burnham JM, Pang V, Idowu O, Iyer S. Ocular manifestations of primary myelofibrosis. Retin Cases Brief Rep 2016;10:364-7.  Back to cited text no. 8
Liu M, Lee AG, Rice L, Lambert HM. Bilateral retinal vascular occlusive disease in essential thrombocythemia. Retina 1999;19:563-4.  Back to cited text no. 9
de Lacerda JF, Oliveira SN. Chronic myeloproliferative diseases. Handb Clin Neurol 2014;120:1073-81.  Back to cited text no. 10
Ohtsubo M, Hayashi K, Fukushima T, Chiyoda S, Takahara O. Case report: Intracranial extramedullary haematopoiesis in postpolycythemic myelofibrosis. Br J Radiol 1994;67:299-302.  Back to cited text no. 11
Chen WB, Wang XL. Cerebral venous sinus thrombosis as the first manifestation of JAK2V617F-positive essential thrombocythemia. Chin Med J 2018;131:748-50.  Back to cited text no. 12
[PUBMED]  [Full text]  


Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

  In this article

 Article Access Statistics
    PDF Downloaded13    
    Comments [Add]    

Recommend this journal