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 Table of Contents  
Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 183-185

Progressive optic neuropathy secondary to JAK2 mutation-positive myeloproliferative neoplasm

1 Associate Consultant, Sri City Sankara Nethralaya, Chittoor, Andhra Pradesh, India
2 Director, Department of Neuro-Ophthalmology, Sankara Nethralaya, Chennai, Tamil Nadu, India
3 Department of Radiology, Sankara Nethralaya, Chennai, Tamil Nadu, India
4 Department of Neurology, Vijaya Health Care, Chennai, Tamil Nadu, India

Date of Submission19-Apr-2021
Date of Acceptance25-Aug-2021
Date of Web Publication07-Jan-2022

Correspondence Address:
Dr. Swetha Komma
Department of Neuro-Ophthalmology, Sankara Nethralaya, No.41 (Old No.18), College Road, Chennai - 600 006, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_768_21

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We describe a 25-year-old male presenting with chronic papilledema due to cerebral venous sinus thrombosis (CVST) and was found to have a myeloproliferative disorder with JAK2 mutation. All measures to salvage vision were unfruitful from transverse sinus stenting, thecoperitoneal shunt to optic nerve sheath fenestration. This case illustrates the importance of screening for JAK2 mutation in patients with CVST and abnormal blood counts.

Keywords: JAK2, myeloproliferative disorder, optic nerve sheath fenestration, papilledema

How to cite this article:
Komma S, Ambika S, Noronha VO, Arjundas D. Progressive optic neuropathy secondary to JAK2 mutation-positive myeloproliferative neoplasm. Indian J Ophthalmol Case Rep 2022;2:183-5

How to cite this URL:
Komma S, Ambika S, Noronha VO, Arjundas D. Progressive optic neuropathy secondary to JAK2 mutation-positive myeloproliferative neoplasm. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Aug 14];2:183-5. Available from: https://www.ijoreports.in/text.asp?2022/2/1/183/334978

Papilledema refers to disc edema secondary to raised intracranial pressure (ICP). Patients usually present with symptoms and signs of raised ICP such as headache, nausea, vomiting, transient visual obscuration, and diplopia. There are various causes for raised ICP like idiopathic intracranial hypertension, space-occupying lesion, cerebral venous sinus thrombosis (CVST), intracranial hemorrhage, and hydrocephalus. CVST can occur secondary to hypercoagulable states, infection, and neoplasm. Early diagnosis of this entity and appropriate treatment can salvage vision to a certain extent. In this report, we discuss the management of a case of chronic papilledema secondary to CVST who was found to have a JAK2 mutation-positive myeloproliferative disorder.

  Case Report Top

A 25-year-old male who was a congenital color blind presented with complaints of headache, transient visual loss, tinnitus for 2 months, and a recent profound vision loss. Past medical history was insignificant. On examination, his best-corrected visual acuity was 6/6, N6 with difficulty in both eyes. Both pupils were sluggishly reacting to light. Anterior segment examination was normal. Fundus evaluation revealed clear optical media, bilateral chronic disc edema with pallor [Figure 1]. He had grossly constricted visual fields on Humphrey visual field analyzer [Figure 2]. Magnetic resonance imaging (MRI) of brain and orbit revealed widened perioptic space and empty sella, magnetic resonance venogram (MRV) of brain revealed focal filling defects in right transverse sinus and narrowing of left transverse sinus [Figure 3]. He was referred to a Neurologist for further evaluation where he had a lumbar puncture. His cerebrospinal fluid (CSF) pressure was 32 cmH2O and composition was normal. He was also evaluated by Hematologist. His blood tests revealed Hb 16 gm%, platelets 8.9 lakhs/cu.mm, white blood cell count of 14480 cells/cu.mm, differential count (neutrophil 75.5, lymphocyte 17.6, monocyte 5, eosinophil 1.2, and basophil 0.7), prothrombin time 11.1 s, and international normalized ratio 1.09 and further blood and marrow studies revealed a positive JAK2 mutation. The diagnosis of essential thrombocytosis with papilledema was made. Subsequently, the patient was treated with oral tablet acetazolamide 250 mg 3 times per day, capsule hydroxyurea 500 mg 1 capsule alternate day for 1 week and then 1 capsule every day, capsule dabigatran etexilate 110 mg 2 times per day, and clopidogrel 75 mg once a day. A week later he had presented with horizontal diplopia as he had developed bilateral abduction limitation. Subsequently, he had undergone cerebral digital subtraction angiography and it revealed bilateral transverse sinus stenosis. He promptly had a right transverse sinus stenting. Although his headache improved post stenting, he had further drop in vision to 6/12 in right eye, and 6/36 in left eye. In view of further drop in vision, the patient underwent CSF diversion procedure, a ventriculoperitoneal shunt was attempted but due to unsatisfactory CSF flow it was converted to a thecoperitoneal shunt. Patient was continued on oral antiedema, anticoagulants, and hydroxyurea. Postoperatively MRI Brain revealed subacute bleed in right high parietal region. Repeat MRV Brain revealed absent flow in right jugular bulb and sigmoid sinus and narrowing of left transverse sinus. Three weeks later his vision dropped to hand movements close to face in both eyes. Hence, he underwent left eye optic nerve sheath fenestration after which vision was stable at CF 1 meter. Patient was continued on oral anticoagulants and hydroxyurea. Optical coherence tomography (OCT) showed a reduction in retinal nerve fiber layer (RNFL) thickness [Figure 4] but ganglion cell complex showed gross thinning.
Figure 1: Both eyes disc edema with pallor

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Figure 2: Humphrey visual fields demonstrate both eyes constricted visual fields

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Figure 3: MRI T2W imaging. (a) Axial image reveals widened peri optic cerebrospinal fluid space (arrow). (b) Coronal image reveals empty sella (arrow). (c) MRV reveals focal filling defects in right transverse sinus and narrowing of left transverse sinus (arrows)

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Figure 4: (a) Preoperative disc photo shows disc edema with pallor and OCT shows increased RNFL thickness. (b) Postoperative disc photo shows reduced disc edema and OCT shows reduced RNFL thickness

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  Discussion Top

JAK2 V617F (Janus kinase) mutation is an acquired, somatic mutation that leads to clonal expansion of hematopoietic cells leading to myeloproliferative neoplasms (MPN) like polycythemia vera, essential thrombocytosis, and primary myelofibrosis. It can be seen even without overt neoplasm.[1] CVST can be the first symptom of an MPN. Patients with CVST can carry the JAK2 V617F mutation, irrespective of blood count.[2] Screening for the JAK2 V617F mutation in CVST patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVST because of its relatively high prevalence and the risk of recurrent thrombosis.[3] In patients with JAK2 V617F mutation and without overt MPN, long-term anticoagulation treatment may be considered.[4]

  Conclusion Top

This case emphasizes the importance of screening for JAK2 mutation in patients with CVST and abnormal blood counts. Prompt diagnosis and management of this myeloproliferative hypercoagulable disease can salvage vision and life to a certain extent.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Nielsen C, Birgens HS, Nordestgaard BG, Kjær L, Bojesen SE. The JAK2 V617F somatic mutation, mortality and cancer risk in the general population. Haematologica 2011;96:450.  Back to cited text no. 1
Passamonti SM, Biguzzi E, Cazzola M, Franchi F, Gianniello F, Bucciarelli P, et al. The JAK2 V617F mutation in patients with cerebral venous thrombosis. J Thromb Haemost 2012;10:998-1003.  Back to cited text no. 2
Lamy M, Palazzo P, Agius P, Chomel JC, Ciron J, Berthomet A, et al. Should we screen for janus kinase 2 V617F mutation in cerebral venous thrombosis? Cerebrovasc Dis 2017;44:97-104.  Back to cited text no. 3
Godeneche G, Gaillard N, Roy L, Mania A, Tondeur S, Chomel JC, et al. JAK2V617F mutation associated with cerebral venous thrombosis: A report of five cases. Cerebrovasc Dis 2010;29:206-9.  Back to cited text no. 4


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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