About OJO | Search | Ahead of print | Current Issue | Archives | Author Instructions | Reviewer Guidelines | Online submissionLogin 
Oman Journal of Ophthalmology Oman Journal of Ophthalmology
  Editorial Board | Subscribe | Advertise | Contact
https://www.omanophthalmicsociety.org/ Users Online: 646  Wide layoutNarrow layoutFull screen layout Home Print this page  Email this page Small font size Default font size Increase font size


 
 Table of Contents    
CLINICAL IMAGE
Year : 2015  |  Volume : 8  |  Issue : 3  |  Page : 208-210  

Pulsatile enophthalmos, severe esotropia, kinked optic nerve and visual loss in neurofibromatosis type-1


1 Department of Pediatric Ophthalmology, Strasbimsus and Neuro-ophhtalmology, Nimmagada Prasad Children's Eye care Centre, LVPEI-GMRV Campus, LVPEI, KAR Campus, Hyderabad, India
2 Department of Pediatric Ophthalmology, Strabismus and Neuro-ophtalmology, Jasti V Ramanamma Children's Eye Care Centre, LVPEI, KAR Campus, Hyderabad, India
3 Department of Retina and Vitreous Services, LVPEI, GMRV Campus, Visakhapatnam, India

Date of Web Publication20-Nov-2015

Correspondence Address:
Dr. Virender Sachdeva
Department of Pediatric Ophthalmology, Strabismus and Neuro-Ophthalmology, L V Prasad Eye Institute, GMRV Campus, Hanumanthwaka Junction, Visakhapatnam - 530 040, Andhra Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-620X.169894

Rights and Permissions
   Abstract 

Neurofibromatosis Type I if associated with aplasia of greater wing of sphenoid may be associated with a pulsatile exophthalmos. However, very rarely it may be associated with a pulsatile enophthalmos. This clinical image describes a rare presentation with pulsatile enophthalmos, esotropia and kinking of the optic nerve due to neurofibomatosis type I.

Keywords: enophthalmos, Neurofibromatosis Type I, Pulsatile


How to cite this article:
Sachdeva V, Haque N, Pathengay A, Kekunnaya R. Pulsatile enophthalmos, severe esotropia, kinked optic nerve and visual loss in neurofibromatosis type-1. Oman J Ophthalmol 2015;8:208-10

How to cite this URL:
Sachdeva V, Haque N, Pathengay A, Kekunnaya R. Pulsatile enophthalmos, severe esotropia, kinked optic nerve and visual loss in neurofibromatosis type-1. Oman J Ophthalmol [serial online] 2015 [cited 2020 Jul 5];8:208-10. Available from: http://www.ojoonline.org/text.asp?2015/8/3/208/169894


   Introduction Top


Unilateral pulsatile enophthalmos may occur secondary to orbital varices,1 carotico-cavernous fistula,1 and absence of greater wing of the sphenoid.2 In addition, prolapse of the nervous tissue from the defect may cause compression of optic nerve and ocular deviation. Authors' report in this clinical image a rare case of Neurofibromatosis Type -I with above presentation.


   Case Presentation Top


A 64-year-old man presented to our institute with complaints of poor vision and left eye appearing small in size since childhood. He also had a history of multiple cutaneous swellings all over the body since early adulthood. His best-corrected visual acuity was 20/20 in the right eye and finger counting close to face in the left eye. External examination showed severe enophthalmos of the left eye and a large angle esotropia (>100 prism diopter by Krimsky test) with −3 limitation of abduction, elevation and depression of the left eye [Figure 1]. Faint pulsations of the enophthalmic eye were observed. The video link should work when available online [Video 1]. There was no effect of the Valsalva manoeuvre or positional change on the enophthalmos. Pupil examination showed a relative afferent pupillary defect in the left eye. Fundus examination was unremarkable in the right eye, and the optic disk was pale in the left eye. On general examination, multiple cutaneous neurofibromas [Figure 2], cafe-au-lait patches (six, most more than 15 mm in greatest diameter) over the trunk and back and hollowness of the left temporal fossa.
Figure 1: Clinical face photograph (a) and nine gaze motility picture of the patient (b) presence of neurofibromas, gross enophthalmos, large angle esotropia and limitation of abduction, elevation and depression in the left eye

Click here to view
Figure 2: Clinical photograph of the patient showing presence of multiple neurofibromas of the trunk and presence of cafe-au-lait spot (inset in high magnification, white arrow)

Click here to view





Computed tomography scan of the brain and orbits showed absence of the greater wing of the sphenoid, herniation of brain parenchyma along with cerebrospinal fluid (CSF) into the left orbit causing pulsating enophthalmos, esotropia and kinking of optic nerve [Figure 3] and [Figure 4]. Optic atrophy of the left eye was attributed to the chronic kinking of the optic nerve. A diagnosis of neurofibromatosis (NF) type I with aplasia of greater wing of sphenoid was made.
Figure 3: Coronal computerized tomography scans (a and b) of the patient showing missing greater wing of sphenoid (white asterix) a prolapse of the temporal lobe of the brain in the left orbit (white arrows)

Click here to view
Figure 4: Coronal computerized tomography scans (a and b) of the patient showing missing greater wing of sphenoid (white asterix) a prolapse of the temporal lobe of the brain in the left orbit (white arrows)

Click here to view



   Discussion Top


Unilateral enophthalmos usually occurs as a sequeale of microphthalmos, orbital fractures, and sclerosing orbital disorders. Unilateral pulsatile eye has been reported with orbital varices,[1] carotico-cavernous fistula [2] and absence of greater wing of the sphenoid.[3]

Hypoplasia of the greater wing of the sphenoid (though mostly incomplete) is an uncommon developmental defect. It is a pathognomic features reported in about 5–10% of patients with NF-1.[4] It is usually associated with an exophthalmos, which may be pulsatile due to transmitted CSF pulsations. However, sometimes an associated enophthalmos may be seen secondary to microphthalmos or deficient lateral wall of the orbit that allows orbital contents to decompress into the temporal fossa/intracranially.[3],[4] In our patient, the greater wing of sphenoid was almost aplastic, associated with a mild proplase of the retro-orbital fat into temporal fossa, which could have caused enophthalmos. Associated herniation of the temporal lobe into lateral orbit caused a large angle esotropia and a kinked optic nerve. This might have led to a limitation of all the movements (abduction, elevation, and depression) and compressive optic atrophy in the left eye. In our patient systemic manifestations of NF-1 (neurofibromas and café-au-lait spots) helped to make the diagnosis. Sometimes enophthalmos may be the only presenting feature of NF-1.[3] Though rare, ophthalmologists could be the first to encounter this rare presentation and should be aware of this association and possible complications accounting for visual loss.

 
   References Top

1.
Prabhakaran VC, Selva D. Pulsating enophthalmos in association with an orbital varix. Indian J Ophthalmol 2009;57:225-7.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.
Gupta S, Thakur AS, Bhardwaj N, Singh H. Carotid cavernous sinus fistula presenting with pulsating exophthalmos and secondary glaucoma. J Indian Med Assoc 2008;106:312, 346.  Back to cited text no. 2
    
3.
Menon V, Vashisht S, Gupta KK, Singh J, Prakash P. Pulsating enophthalmos in aplasia of sphenoid wing. Indian J Ophthalmol 1993;41:88-90.  Back to cited text no. 3
[PUBMED]  Medknow Journal  
4.
Jacquemin C, Bosley TM, Svedberg H. Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol 2003;24:1678-82.  Back to cited text no. 4
    


    Figures

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



 

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

 
  In this article
    Abstract
   Introduction
   Case Presentation
   Discussion
    References
    Article Figures

 Article Access Statistics
    Viewed1710    
    Printed18    
    Emailed0    
    PDF Downloaded145    
    Comments [Add]    

Recommend this journal