Unilateral Retinal Vasculitis as the Presenting Manifestation of Parry-Romberg Syndrome (Progressive Hemifacial Atrophy)

Abstract

Purpose:

This work aims to present a case of retinal vasculitis associated with Parry-Romberg syndrome.

Method:

A case report is presented.

Results:

A 17-year-old man with new floaters was found to have 20/40 vision with 1+ vitreous cell and retinal vasculitis in the right eye only. Workup for infectious etiologies did not reveal an explanation for the retinal vasculitis. However, magnetic resonance imaging of the head showed areas of linear band-like atrophy and scarring of the scalp and soft tissues as well as areas of gliosis and encephalomalacia in the subcortical white matter, all of which were consistent with Parry-Romberg syndrome. The patient was prescribed oral steroids and methotrexate, and the retinal vasculitis improved.

Conclusions:

Parry-Romberg syndrome is a rarely reported cause of retinal vasculitis and should be kept in the differential for retinal vasculitis.

Introduction

Parry-Romberg syndrome (PRS), also known as progressive hemifacial atrophy, is a rare syndrome in the spectrum of linear scleroderma that is characterized by progressive atrophy of one side of the face. It often coexists with en coup de sabre, which is exemplified by scalp morphea and magnetic resonance imaging (MRI) changes. ¹ The ongoing atrophy may be especially striking later in the disease course, significantly affecting the brain and eye. A review by Bucher et al showed that the most common ocular manifestation of the syndrome is enophthalmos followed by eyelid dysfunction related to the facial atrophy. ² Retinal vasculitis related to PRS has been reported but is rare. ^{3 -5} This is the first case of which we are aware in which PRS was diagnosed after the onset of the retinal vasculitis.

Methods

Case Report

A 17-year-old man reported to our clinic with a 1-month history of floaters in his right eye. He was found to have 20/40 vision in the right eye and 20/20 vision in the left eye. On examination, he had a right afferent pupillary defect. His anterior segments were unremarkable and quiet. He had 1+ vitreous cell, disc edema, and occlusive retinal vasculitis with preretinal and intraretinal hemorrhages in the right eye, as shown in Figure 1. Fluorescein angiogram (FA) confirmed the vasculitis (Figure 2). An optical coherence tomography scan showed macular edema and disc edema in the right eye (Figure 3).

Figure 1.

A color fundus photograph of the right eye showing retinal vasculitis, edema, and hemorrhage..

Figure 2.

Fluorescein angiogram confirming the retinal vasculitis and demonstrating areas of nonperfusion.

Figure 3.

Optical coherence tomography (OCT) of the right eye showing macular edema and optic nerve edema.

The patient was healthy with no known medical conditions and was on no medications. There was no history of autoimmune problems or symptoms. Workup for infectious etiologies, including serology testing for syphilis, varicella zoster, toxoplasmosis, tuberculosis, human immunodeficiency virus, West Nile virus, herpes simplex virus, coxsackie virus, and cytomegalovirus, did not explain the retinal vasculitis, and anterior chamber polymerase chain reaction testing was negative for varicella zoster virus. Workup for systemic inflammatory disorders included complete blood count, erythrocyte sedimentation rate, antinuclear antibodies, B51 human leukocyte antigen serotype, blood culture, and a chest x-ray. These were also all unrevealing.

However, MRI of the head (Figure 4) showed focal gliosis and encephalomalacia in the subcortical white matter, areas of linear band-like atrophy, and scarring of the scalp and soft tissues that were consistent with linear scleroderma en coup de sabre. On further examination, he was noted to have 2 mm of enophthalmos of the right eye as well as scalp changes consistent with morphea, which in combination with the MRI findings was indicative of PRS.

Figure 4.

T2-weighted coronal magnetic resonance imaging showing encephalomalacia and gliosis in the subcortical white matter of the right frontal lobe.

Results

The patient was treated with oral and local steroids and methotrexate (off-label use), and there were gradual improvement in the retinal vasculitis and resolution of the macular edema.

Conclusions

PRS has previously been associated with retinal vasculitis. ^{3 -5} In previously reported cases, 2 patients have been older (aged 37 and 33 years) and one much younger (aged 7 years). All had the diagnosis of PRS before their subsequent diagnosis of retinal vasculitis. Like our case, two of the other cases had retinal vasculitis on the same side that was affected by PRS. ^4,5 The other case had bilateral PRS with only 1 eye involved. ³

In two of the previous cases there was more extensive anterior chamber cell. One had keratic precipitates, 2+ anterior chamber cells, ⁵ and another had keratic precipitates and 3+ anterior chamber cells. ⁴ The remaining case, like ours, had only vitreous cell. ³ This may suggest that anterior segment inflammation is independent of posterior chamber involvement in PRS.

The best treatment for these cases is not clear. PRS is a rare disease (1 in 700,000 affected) with known spontaneous stabilization and worsening. ² Thus, large clinical trials to determine efficacy of treatment are not feasible, but many medications used for systemic rheumatic disease have been tried. ² In previously reported cases of retinal vasculitis, one used 4 mg/kg/d of cyclosporine and laser photocoagulation to the area of ischemia on FA with improvement in vision from 20/25 and a decrease in macular edema on FA at 1 year. ³ Another was treated with topical prednisolone acetate and tropicamide with improvement in anterior chamber reaction. ⁴ The vision in that patient was 20/20 at baseline. No mention was made of the response of the retinal vasculitis. The third case did not mention treatment. ⁵

This report is the first to our knowledge to have PRS diagnosed as part of the workup for retinal vasculitis. It serves as a reminder for the ophthalmologist to consider this disease in cases of retinal vasculitis and to alert the radiologist to evaluate for it if an MRI is ordered in the course of a workup.