From the Department of Ophthalmology, Changhua Christian Hospital, Changhua City, Taiwan.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to San-Ni Chen, MD, 135 Nanxiao Street, Changhua City, Changhua County, 500, Taiwan.
Neurofibromatosis 1 (NF1) is the major form of phakomatoses. The major diagnostic features of NF1 are café-au-lait patches, neurofibromas, skin-fold freckling, iris Lisch nodules, optic pathway glioma, and bony dysplasia.1 Although NF1 is a multisystem disorder, there is no documentation of NF1 combined with Coats’ disease. We report a case of Coats’ disease in a child with NF1.
A 6-year-old boy with right eye pain for 2 days was referred to our institution for management of intraocular pressure (IOP). Visual acuity was 20/200 in the right eye and 20/20 in the left eye. IOP was 50 mm Hg in the right eye and 10 mm Hg in the left eye. Anterior segment examination revealed mild corneal edema and iris neovascularization in the right eye. There were some iris Lisch nodules in both eyes. Café-au-lait patches were on the trunk and legs (Fig. 1A). The right fundus showed optic disc edema, venous engorgement and tortuosity, telangiectasias accompanied by dense intraretinal lipid exudation, and hemorrhage over lower retina (Fig. 2A). The left fundus was normal.
Figure 1. (A) Multiple Café-Au-Lait Patches on the Back of the Patient. Note an Old Excision Scar for Neurofibroma over the Lumbar Region. (B) Magnetic Resonance Imaging Showed High Signal Lesions (white Arrows) in Bilateral Cerebellar Hemispheres on T2-Weighted Image.
Figure 2. Preoperative and Postoperative Findings for This Patient. (A) at Presentation, Right Fundus Showed Moderate Optic Disc Edema, Venous Engorgement, and Tortuosity, Accompanied by Dense Intraretinal Lipid Exudation and Hemorrhage over Lower Peripheral Retina. (B) Fourteen Months After Operation, Right Fundus Showed Mild Intraretinal Lipid Exudation and Some Dense Pigmented Retinal Scar Formation.
Magnetic resonance imaging revealed high signal lesions in the right basal ganglion, bilateral globus pallidi, right cerebral peduncle, hypothalamus, left pons, left medulla, and bilateral cerebellar hemispheres in T2-weighted images (Fig. 1B), indicating NF1 with multiple non-tumorous lesions.2 We treated the patient with an intravitreal injection of 1.25 mg bevacizumab, topical timolol/dorzolamide fixed combination twice daily, 0.15% brimonidine purite three times daily, latanoprost once daily, 0.5% atropine once daily, and 1% prednisolone acetate four times daily. We also prescribed oral acetazolamide 125 mg four times daily and intravenous mannitol 150 mL every 8 hours. However, elevated IOP up to 49 mm Hg persisted despite iris neovascularization regression. Emergent operation was performed 3 days later. We undertook combined treatment including laser photocoagulation, peripheral retinal cryotherapy, and trabeculectomy with mitomycin C on the right eye under general anesthesia.
One day after surgery, strong reaction was found in the anterior chamber and the IOP decreased to 23 mm Hg. Two weeks after surgery, the visual acuity was 20/100, iris neovascularization regressed, anterior chamber reaction resolved, and the IOP was 19 mm Hg without an additional anti-glaucomatic agent administered. Two months after surgery, the visual acuity in the right eye was 20/30 with an IOP of 20 mm Hg. The right fundus showed regressed telangiectatic vessels, resolved intraretinal hemorrhage, and decreased intraretinal lipid exudation with lower retina pigmented scar formation. Six months after surgery, visual acuity was 20/20 and IOP was 17 mm Hg. The latest follow-up was done 18 months after operation; the visual acuity was 20/20 with an IOP of 14 mm Hg and mild posterior lens subcapsular opacity in his right eye. There was no intraretinal lipid exudation except for some dense pigmented retinal scar formation.
Ophthalmologic manifestations of NF1 include plexiform neurofibromatosis of the eyelid, Lisch nodules of the iris, neurofibroma or neurilemmoma of choroids, retinal astrocytic hamartoma, optic nerve glioma, and congenital glaucoma.1 Coats’ disease usually presents unilaterally in young boys without evidence of systemic disease. However, Coats’ disease has been described as a syndrome in association with several hereditable ocular diseases including retinitis pigmentosa, Hallermann–Streiff syndrome, Senior–Loken syndrome, Cornelia De Lange syndrome, Parry–Romberg syndrome, and epidermal nevus syndrome.3 Phakomatoses including tuberous sclerosis4 and von Hippel–Lindau disease5 have also been reported to be associated with Coats’ disease. To our knowledge, there is no documentation of NF1 with Coats’ disease. Coats’ disease might be a rare manifestation associated with NF1, or is just coincidence in our case. One thing unusual is that neovascular glaucoma, which often develops at the end stage of Coats’ disease with extensive exudative retinal detachment and heavy lipid exudation,6 appeared in an early stage of Coats’ disease in our case even though only limited exudation in lower peripheral retina was noted.
Coats’ disease with early-onset neovascular glaucoma might be a manifestation of NF1. Combined therapy of intravitreal injection of bevacizumab, cryotherapy of retinal vascular lesion, and trabeculectomy may help restore vision.
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