Abstract
Purpose
To present a 22-month-old girl with a complete retinal detachment who was found to have systemic exam findings consistent with neurofibromatosis type 1 during the course of multi-specialty exam under anesthesia.
Observations
During examination under anesthesia, ophthalmic exam findings demonstrated retinal detachment with cyst formation, as well as peripheral non-perfusion of the retina in the left eye. Non-ophthalmic findings discovered on difficulty with intubation included a laryngeal plexiform neurofibroma and café-au-lait spots.
Conclusions
Pediatric retinal detachments are uncommon compared to those in adults. Pediatric patients with neurofibromatosis type 1 can present with vision loss as the presenting symptom. Systemic signs and symptoms should be carefully screen and monitored.
1
Introduction
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous syndrome that impacts several organ systems, including the eye. Ocular manifestations of NF1 include iris Lisch nodules, optic pathway gliomas, eyelid or orbit plexiform neurofibroma, glaucoma, and, rarely, retinal hamartomas. Here, we present a 22-month-old girl who was referred for possible Toxocara canis retinal detachment (RD) of the right eye and noted to have a laryngeal mass and peripheral non-perfusion of the left eye.
2
Case report
A 22-month-old girl presented from Puerto Rico for evaluation of one month of leukocoria in the right eye with pain, inflammation, vision changes and exotropia. She was diagnosed with a possible Toxocara canis retinal detachment with negative Toxocara IgM and IgG. The patient was born at full term and had no other past medical history. She had no relevant family history of ophthalmic or inherited disorders.
On ophthalmic examination, she had a poor reaction to light in the right eye and was able to fix and follow in the left eye. Her pupil was fixed with posterior synechia in the right eye and 2.5 mm in the left eye. Her right eye demonstrated exotropia. There were no iris Lisch nodules present bilaterally.
During exam under anesthesia (EUA), her intraocular pressure was 37 mmHg in the right eye and 12 mmHg in the left eye. The right eye showed injected conjunctiva with a deep anterior chamber and a retrolental membrane of vascular tissue consistent with apposition of the retina to the posterior lens ( Fig. 1 a). B-scan echography of the right eye demonstrated a small globe with a total funnel retinal detachment, cyst formation with no evidence of retinoblastoma. Ultrasonography and fundus photography of the left eye was otherwise unremarkable. There were otherwise no issues with her initial EUA.
Fluorescein angiography (FA) showed a lack of patent vasculature in the right eye with abnormal vasculature in the posterior retrolental space consistent with a total retinal detachment. FA of the left eye was normal posteriorly with abnormal tortuosity and vasculature temporally ( Fig. 1 b) and peripheral nonperfusion noted temporally, superotemporally ( Fig. 1 c), and inferotemporally. The retinal detachment was determined to be inoperable and an injection of sub-Tenon’s Kenalog was given to the right eye. The child was treated with topical prednisolone and glaucoma medications.
On repeat EUA four months later, the patient had a stable ocular exam with decreased IOP to 12 mmHG in the affected eye. It was noted that the patient had more than 6 cafe-au-lait spots larger than 5mm diameter present on her trunk and legs. During intubation, a large cystic mass was noted in the airway ( Fig. 2 a). Pediatric otolaryngology was then consulted, resulting in a hospital admission for direct laryngoscopy, imaging, and possible biopsy. The family stated they had noted problems breathing at night that had been diagnosed as enlarged adenoids in Puerto Rico.
