From the 2nd Department of Ophthalmology (PGT, IV), Athens University; and the 2nd Department of Ophthalmology (VGG, IE, AP, PN, GPT), Henry Dunant Hospital, Athens, Greece.
Address correspondence to Panagiotis G. Theodossiadis, MD, 13 Lykiou Street, 106 74 Athens, Greece.
Parry–Romberg syndrome is a rare disease characterized by progressive hemifacial atrophy involving the skin, subcutaneous tissue, muscles, cartilage, and bone.1,2 Ophthalmic involvement is common with progressive enophthalmos. Restrictive strabismus, heterochromia, pupillary disturbances, third nerve palsies, and fundus disturbances are some of the ophthalmic disorders associated with this syndrome. Progressive visual loss in the first two decades of life has been described.3 The cause and pathophysiology of the syndrome are unknown. We describe a case of Parry–Romberg syndrome with special emphasis on the optical coherence tomography (OCT) findings.
A 22-year-old woman presented with decreased vision in the left eye. The medical history showed that the patient had Parry–Romberg syndrome, which became evident at the age of 5 years. The examination revealed left side facial asymmetry and hemifacial atrophy with severe enophthalmos. There was also evidence of deviation, vertical scars, skin atrophy of the forehead region, and missing hair. Best-corrected visual acuity of the affected left eye was 20/400.
The anterior and posterior chambers and the vitreous in the left eye had no inflammatory cells, whereas a left pupillary afferent defect was observed. Fundus examination revealed optic disc swelling, tortuosity and sheathing of the retinal vessels, and retinal folds in the papillomacular area and in the inferior part of the fundus (Fig. 1). Fluorescein angiography illustrated leakage of the optic disc vessels, mottling of the pigment epithelium in the posterior pole, and hypofluorescence in the mid periphery (Fig. 2).
Figure 1. Color Photograph Showing the Retinal Folds in the Posterior Pole and the Sheathing and Engorgement of the Retinal Vessels. the Arrow Indicates the Direction and Location of the Optical Coherence Tomography Scan in Figure 5.
Figure 2. Fluorescein Angiogram Depicting Leakage of the Optic Disc Vessels, the Mottling Defects in the Papillomacular Area, and Hypofluorescence in the Mid Periphery.
OCT (OCT 3000, version A1.1; Carl Zeiss Meditec, Dublin, CA) was performed at the fovea and the optic disc with six radial scans and the papillomacular area with linear scans of variable length and orientation (4 to 6 mm). OCT revealed retinal nerve fiber layer edema. There were also hyperreflective areas on the retinal surface indicating abnormalities and thickening of the vitreoretinal interface (Figs. 3 and 5). OCT showed an interrupted and mildly thickened choriocapillaris layer, especially in the places where pigment epithelium alterations were present (Fig. 3). Diffused retinal edema more prominent toward the optic disc was evident (Fig. 4). The retina was thick and elevated at places in the papillomacular area with shadowing of the outer retinal layer and choriocapillaris. This represented retinal folds with diffuse retinal edema (Fig. 5).
Figure 3. The Retinal Nerve Fiber Layer Edema and the Abnormalities of the Vitreoretinal Interface Are Shown by Optical Coherence Tomography. also Notice the Diffuse Retinal Edema and the Mildly Interrupted and Thickened Chorioretinal Layer.
Figure 5. The Retinal Nerve Fiber Layer Edema and the Abnormalities and Thickening of the Vitreoretinal Interface Are Well Demonstrated (arrow). Optical Coherence Tomography also Shows the Retinal Folds and the Diffuse Retinal Edema.
Figure 4. The Thick Retina in the Papillomacular Area Is Interrupted by Retinal Folds with Diffuse Macular Edema.
Magnetic resonance imaging and B-scan ultrasonography revealed left microphthalmos. Mobility was normal bilaterally. The right eye did not show any abnormality and had a visual acuity of 20/20.
Several retinal alterations, such as papilledema, cotton wool spots, dilated veins, pigment epithelium changes, telangiectasias, retinal vasculitis, stellate exudative neuroretinopathy, and exudative retinal detachment, have been described in Parry–Romberg syndrome by slit-lamp biomicroscopy and fundu-scopy.4–7 To our knowledge, this is the first time that OCT was used in the study of Parry–Romberg syndrome. The most interesting finding shown in our case is the retinal nerve fiber layer edema that was well demonstrated on OCT.
Other interesting findings are the thickening and abnormalities of the vitreoretinal interface represented on OCT by hyperreflectivity of the retinal surface (Figs. 3 and 5). OCT also demonstrated the presence of diffuse retinal edema in the papillomacular area (retinal thickness ranging from 415 to 750 μm). Another finding that has to be mentioned is the presence of the retinal folds on the edematous retina. A thicker chorioretinal layer has also been reported by B-scan ultrasonography.8 However, OCT in our case accurately identified the abnormalities of the vitreoretinal interface and the retinal nerve fiber layer involvement in association with diffuse retinal edema.
In Parry–Romberg syndrome, OCT may prove useful in identifying additional retinal pathology located on the retinal surface and in the retinal nerve fiber layer.
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