|Year : 2021 | Volume
| Issue : 3 | Page : 407-408
Unilateral congenital ectropion uveae with advanced glaucoma in a child with neurofibromatosis 1
Shilpa More1, Vijayalakshmi A Senthilkumar1, Sharmila Rajendrababu1, Shanthi Radhakrishnan2
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 Submission||25-Nov-2020|
|Date of Acceptance||04-Feb-2021|
|Date of Web Publication||02-Jul-2021|
Dr. Vijayalakshmi A Senthilkumar
Glaucoma Consultant, Department of Glaucoma, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai - 625 020, Tamil Nadu
Source of Support: None, Conflict of Interest: None
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|| |
Neurofibromatosis 1 (NF1), previously known as Von Recklinghausen's disease, is an autosomal dominant disorder that mainly affects the skin and peripheral nervous system. 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. 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. 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. Glaucoma filtration surgery or drainage device placement may be necessary.
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|| |
Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol 2009;61:1-14.
Morales J, Chaudhry IA, Bosley TM. Glaucoma and globe enlargement associated with neurofibromatosis type 1. Ophthalmology 2009;116:1725-30.
Beck AD. Diagnosis and management of pediatric glaucoma. Ophthalmol Clin North Am 2001;14:501-12.
Salim S, Walton DS. Goniotomy and trabeculotomy. In: Yanoff M, Duker JS, editors
. Ophthalmology. 3rd
ed.. New York: Elsevier; 2008. p. 1241-5.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]