• Users Online: 137
  • Print this page
  • Email this page

 Table of Contents  
Year : 2021  |  Volume : 1  |  Issue : 3  |  Page : 407-408

Unilateral congenital ectropion uveae with advanced glaucoma in a child with neurofibromatosis 1

1 Department of Glaucoma, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
2 Department of Pathology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India

Date of Submission25-Nov-2020
Date of Acceptance04-Feb-2021
Date of Web Publication02-Jul-2021

Correspondence Address:
Dr. Vijayalakshmi A Senthilkumar
Glaucoma Consultant, Department of Glaucoma, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai - 625 020, Tamil Nadu
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_3535_20

Rights and Permissions

Keywords: Childhood glaucoma, congenital ectropion uveae, neurofibromatosis -1, orbital debulking, plexiform neurofibroma

How to cite this article:
More S, Senthilkumar VA, Rajendrababu S, Radhakrishnan S. Unilateral congenital ectropion uveae with advanced glaucoma in a child with neurofibromatosis 1. Indian J Ophthalmol Case Rep 2021;1:407-8

How to cite this URL:
More S, Senthilkumar VA, Rajendrababu S, Radhakrishnan S. Unilateral congenital ectropion uveae with advanced glaucoma in a child with neurofibromatosis 1. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Jul 26];1:407-8. Available from: https://www.ijoreports.in/text.asp?2021/1/3/407/320080

A 7-year-old man child was brought by his mother as she noticed progressive drooping of right upper eyelid since 10 months. There were no similar complaints in other family members. His BCVA was 4/60 & 6/6 in right eye (OD) & left eye (OS) respectively. Clinical evaluation showed plexiform neurofibroma, restriction of ocular movements with inferior dystopia [Figure 1]c. Systemic evaluation revealed multiple cafe-au-lait spots [Figure 1]a and [Figure 1]b. Slit-lamp evaluation OD revealed inferior corneal haze, 1800 congenital ectropion uveae (CEU) & multiple peripheral anterior synechiae (PAS) [Figure 2]a. Gonioscopy OD revealed anterior insertion of iris with angle dysgenesis & broad based extensive PAS [Figure 3]a. Fundus showed a cup to disc ratio of 0.9 [Figure 4]a. Ocular findings OS were unremarkable except for Lisch nodules and gonioscopic evaluation showed open angles with immature angle structures [Figure 2]b, [Figure 3]b and [Figure 4]c. His IOP was 28 mm Hg & 16 mm Hg in OD and OS respectively. He was started on combination of aqueous suppressants (consisting of dorzolamide hydrochloride 2% + timolol maleate 0.5 %) twice daily in OD. MRI scan showed right optic nerve plexiform neurofibroma [Figure 4]b and [Figure 4]d & he underwent right-sided orbital debulking and histopathological examination of the excised tissue confirmed the diagnosis of neurofibroma [Figure 5]a and [Figure 5]b. His IOP OD stabilized to 16 mm Hg with a BCVA of 4/60 at 1-month follow-up visit.
Figure 1: (a-c)- Clinical photography showing multiple flat light brown coloured cafe-au-lait spots over the trunk (black arrow), back (white arrowheads), extremeties varying in size from a few millimeters to several millimeters and a diffuse, boggy swelling in the right upper lid with complete mechanical ptosis with inferior dystopia

Click here to view
Figure 2: (a)- Slit lamp photograph OD showing inferior corneal haze, 1800 congenital ectropion uveae (CEU) from 3'- 9' O clock & multiple peripheral anterior synechiae (PAS). (b)- Slit lamp photograph OS showing normal anterior segment findings

Click here to view
Figure 3: (a)- Gonioscopy images of OD showed complete angle dysgenesis with broad based extensive PAS in all the angles. (b)- OS images showed open angles with immature angle structures & irregular patches of pigment scattered around the angle

Click here to view
Figure 4: (a)- Color fundus photograph OD showing advanced glaucomatous cupping with a cup to disc ratio of 0.9 & diffuse retinal nerve fibre layer thinning (poor view due to mechanical ptosis). (c)- Color fundus photograph OS showing normal fundus. (b) - MRI imaging -T2W axial scan of brain and orbit showing sphenoid dysplasia (white bold arrow). (d)- T2W coronal section (left side) and axial scan (right side) of brain showing temporal lobe herniation (white bold arrow)

Click here to view
Figure 5: (a)- Histopathological findings of the excised tissue (40×) showing proliferation of fibroblasts, expanded neural tissues and Schwann cells interspersed in a vascularised and myxoid stroma. (b)- showing the magnified image of the same confirming the diagnosis of neurofibroma

Click here to view

  Discussion Top

Neurofibromatosis 1 (NF1), previously known as Von Recklinghausen's disease, is an autosomal dominant disorder that mainly affects the skin and peripheral nervous system.[1] Although glaucoma is considered a rare complication of NF1, it has been noted in 23 to 50 percent of patients with orbitofacial involvement and an ipsilateral lid plexiform neurofibroma.[2] The pathogenesis of glaucoma in NF1 is likely multifactorial, involving developmental angle anomalies, infiltration of the anterior chamber angle by neurofibromas, neurofibromatous thickening of the ciliary body, and choroid leading to angle closure and secondary angle closure by anterior synechiae.[2] The patient described here had multiple anterior synechiae with angle dysgenesis, which was believed to have caused rapid glaucomatous damage within 6-7 years of age.

As glaucoma presents early in childhood, a detailed glaucoma evaluation with specific importance to gonioscopy and anterior segment by a glaucoma specialist is highly recommended to prevent blindness in the future-Visual prognosis due to glaucoma is extremely poor in these patients. Although medical management may be attempted initially, patients with CEU eventually requires multiple surgical intervention due to severe angle dysgenesis.[3] Glaucoma filtration surgery or drainage device placement may be necessary.[4]

We report a rare presentation of unilateral Congenital ectropion uveae with ipsilateral advanced glaucoma and plexiform neurofibroma in a 7-year-old child with Neurofibromatosis 1 (NF1). The child was managed with ocular hypotensive medications for controlling intraocular pressures and subsequently, he underwent orbital debulking for the plexiform neurofibroma. We highlight the delayed presentation of glaucoma and mechanical ptosis caused by a large plexiform neurofibroma as reasons for poor visual potential. A comprehensive glaucoma evaluation supplemented with neuroimaging is crucial in surgical decision making in children with large plexiform neurofibromas.

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

Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol 2009;61:1-14.  Back to cited text no. 1
Morales J, Chaudhry IA, Bosley TM. Glaucoma and globe enlargement associated with neurofibromatosis type 1. Ophthalmology 2009;116:1725-30.  Back to cited text no. 2
Beck AD. Diagnosis and management of pediatric glaucoma. Ophthalmol Clin North Am 2001;14:501-12.  Back to cited text no. 3
Salim S, Walton DS. Goniotomy and trabeculotomy. In: Yanoff M, Duker JS, editors. Ophthalmology. 3rd ed.. New York: Elsevier; 2008. p. 1241-5.  Back to cited text no. 4


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


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
Article Figures

 Article Access Statistics
    PDF Downloaded22    
    Comments [Add]    

Recommend this journal