|Year : 2023 | Volume
| Issue : 1 | Page : 106-109
First unilateral glaucoma in an Omani boy with neurofibromatosis type 1 initially presented as proptosis with ectropion uvea
Asaad Al-Habsi1, Nouf Al-Farsi2
1 Oman Medical Specialty Board (OMSB), Oman
2 Department of Ophthalmology, Sultan Qaboos University Hospital (SQUH), Seeb, Oman
|Date of Submission||31-Jan-2022|
|Date of Decision||18-Nov-2022|
|Date of Acceptance||19-Nov-2022|
|Date of Web Publication||21-Feb-2023|
Source of Support: None, Conflict of Interest: None
| Abstract|| |
A 4½-year-old boy presented to the ophthalmology clinic with intermittent left eye (LE) redness, protrusion, and reduced LE vision. He was noticed to have multiple skin hyperpigmented lesions increasing in size and number since birth. Clinically diagnosed as neurofibromatosis (NF)-type I associated with LE glaucoma, axial myopia, and amblyopia. He was started on topical timolol eye drops, then switched his timolol to latanoprost due to parasomnia (sleep disturbances and sleepwalking), and his symptoms improved significantly within 6 weeks with controlled intraocular pressure. NF-1 is a congenital multisystemic disease which needs special attention and continuous monitoring. Unilateral glaucoma is not a common association but can be the presenting ophthalmic manifestation. Multidisciplinary management is crucial for these patients.
Keywords: Ectropion uvea, glaucoma, neurofibromatosis-I, proptosis
|How to cite this article:|
Al-Habsi A, Al-Farsi N. First unilateral glaucoma in an Omani boy with neurofibromatosis type 1 initially presented as proptosis with ectropion uvea. Oman J Ophthalmol 2023;16:106-9
|How to cite this URL:|
Al-Habsi A, Al-Farsi N. First unilateral glaucoma in an Omani boy with neurofibromatosis type 1 initially presented as proptosis with ectropion uvea. Oman J Ophthalmol [serial online] 2023 [cited 2023 Mar 26];16:106-9. Available from: https://www.ojoonline.org/text.asp?2023/16/1/106/370052
| Introduction|| |
Neurofibromatosis type I (NF-I) is an autosomal dominant inherited disorder of neuroectoderm involving multiple systems including skin, eyes, and nervous system. Congenital glaucoma associated with NF1 is rarely reported. Grant and Walton found 1 case among 300 patients with all types of childhood glaucoma examined over a period of 6 years. We report a male child with unilateral ectropion uvea, glaucoma, axial myopia, and proptosis in the presence of clinical NF-I. We believe that our case is the first report of such cases in Oman.
| Case Report|| |
A 4½ years old boy presented to the ophthalmology clinic on December 2020. He is otherwise healthy with normal perinatal history. He was noticed to have multiple skin hyperpigmented lesions increasing in size and number since birth. At 21 months of life, his parents noticed intermittent left eye (LE) redness and protrusion. He had a history of multiple falls and was found to have reduced LE vision in another ophthalmological facility. He was managed for LE amblyopia with patching and glasses, but no detailed eye examination report was provided upon presentation.
His physical examination showed no dysmorphic features, but multiple café au lait on his abdomen and lower limbs. The largest lesion was around 4 cm × 3 cm on his right knee. Axillary and inguinal freckling was noted. Ophthalmic examination showed LE proptosis confirmed by Hertel exophthalmometry to be 6 mm. Visual acuity by symbols chart showed normal vision in the right eye (RE) of 1.0, however, the LE vision was only 0.17. Intraocular pressure (IOP) using an Icare measured 15 mmHg in the right and 19 mmHg in the left. The right pupil was normal, however, the left pupil was sluggish in reaction with early escape. No relative afferent pupillary defect was seen. Orthoptic workup showed left sensory esotropia of about 25–30 PD. Anterior segment examination revealed left conjunctival congestion, iris atrophic patch with pupillary margin pigmentary patch elevated without obvious mass from 3 to 5 o'clock along with some pigmentary changes (ectropion uvea), and single Lisch nodule [Figure 1]. The right iris showed five Lisch nodules. Dilated fundus examination revealed a left optic cup-to-disc ratio (CDR) of 0.5 mm compared to 0.1 mm in RE [Figure 2] and [Figure 3]. On cycloplegic refraction, the RE showed +1.50 sphere and the LE showed −4.00 +1.25 × 080. A-scan showed the axial length of 21.74 mm in the RE versus 24.21 mm in the left.
In ultrasound biomicroscopy, the RE was within normal, while the LE showed an abnormal angle structure [Figure 4] and [Figure 5]. Retinal nerve fiber layer thickness measurements by optical coherence tomography were within normal limits in RE, while LE showed an average thickness of 79 and vertical CDR of 0.6. Central corneal thickness was 549 μ in RE and 561 μ in the LE. MRI showed no intracranial pathology.
|Figure 4: LE UBM showing abnormal angle structural, closed angles from 12 to 7 o'clock. UBM: Ultrasound biomicroscopy, LE: Left eye|
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The patient was assessed by pediatric dermatology, neurology, and genetics and was clinically diagnosed as NF-I. LE glaucoma, axial myopia, and amblyopia were our working diagnoses.
He was started on topical timolol eye drops and full cycloplegic refraction in the LE. He did part-time occlusion therapy (PTO) and his vision improved to 0.7 in the LE. His IOP remained to be within normal limits, but the difference between the two eyes reduced. Six months postdrops, he developed parasomnia (sleep disturbances and sleepwalking). Neurology reassessed the patient with MRI and EEG, and no pathology was found. The patient switched from timolol to latanoprost and his symptoms improved significantly within 6 weeks. On further follow-up, he showed fluctuation in IOP and was referred to the pediatric glaucoma unit to consider surgical intervention if indicated.
| Discussion|| |
Neurofibromatosis-I is an autosomal dominant disorder caused by a heterozygous mutation of the NF1 gene. However, 50% of all affected patients have de novo mutation as in our patient. NF-I presentation is variable in expression which makes it challenging to specify the phenotype of the patients. Unilateral congenital glaucoma is a rare association but can present as the earliest clinical sign to guide the diagnosis. In a retrospective study in Egypt reviewing 340 congenital glaucoma cases within 1st year of life, 2.06% of them were NF1-related. Our patient was noticed to have proptosis early in life, however, only diagnosed at age of 5. Studies suggest age of presentation ranges from 2 months to 13 years old in similar cases. NF-I is diagnosed clinically based on having two or more of the seven criteria: >6 café-au-lait macules of greater than 5-mm diameter in prepubertal individuals, >2 neurofibromas of any type or one plexiform neurofibroma, freckling in the axillary or inguinal regions, optic nerve glioma, and >2 iris Lisch nodules, an osseous lesion such as sphenoid wing dysplasia or thinning of long bone cortex, and a first-degree relative with NF-I. Our patient clinical manifestations include multiple cafe'-au-lait macules, axillary and inguinal freckling, and Lisch nodules. The most common ophthalmic findings of NF-I include iris Lisch nodules, neurofibromas, and optic nerve glioma. Our patient had Lisch nodules and unilateral features of glaucoma with proptosis, axial myopia, and ectropion uvea. Ectropion uvea is a rare nonprogressive proliferation of iris pigment epithelium on the surface of the iris which should trigger further assessment for glaucoma in NF1. The etiology of glaucoma in NF1 can be due to neurofibromas direct infiltration to the angles or ciliary body and choroid resulting in secondary angle closure, neovascular glaucoma, synechial angle closure, or developmental abnormalities of angles. Our patient may resemble what Edward et al. described in a study of clinicopathologic features of congenital ectropion uvea associated with glaucoma in NF-I, they found that ectropion uvea is due to endothelialization of the angles. Management of NF-I-related glaucoma is very similar to primary congenital glaucoma, including medical and surgical interventions tailored to each individual case and response. This patient remained to show normal IOP readings throughout with a significant difference between the two eyes and it was responsive to topical timolol management. Later, he developed sleep disturbances, and although it is rare, timolol has been reported to cause sleep disturbance even if used topically for eye or skin hemangiomas., Surgical management will be reserved for later if the patient still shows progression on maximum medical therapy. Currently, the patient is compliant with his glasses and PTO which has improved his VA. Timely follow-up in such cases is crucial to save the vision and optic nerve.
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.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]