Parry-Romberg syndrome is a rare disorder characterized by progressive hemifacial atrophy involving the skin, subcutaneous tissue, muscles, cartilage, and bone1 that usually begins in the second decade of life.2 This disease progresses through an active phase of decompensation, generally lasting 2 to 10 years, followed by a quiescent phase without continued atrophy. The cause and pathophysiology of the syndrome are unknown.
Ophthalmic involvement is seen in the form of progressive enophthalmos,3 restrictive strabismus, heterochromia, pupillary disturbances, third nerve palsies, and papillitis.2,4 Other rare ocular features reported are scleral melting,5 band-shaped keratopathy,6 primary corneal endothelial failure,7 anisometropia, juvenile glaucoma, and ipsilateral cornea, iris, or angle abnormalities.8 Several retinal alterations leading to visual loss, such as venous dilatation, disc edema, retinal folds, and retinal edema, have been described on clinical examination3,4 as well as on optical coherence tomography (OCT) and fluorescein angiography (FA).9
We describe a case of Parry-Romberg syndrome with severe enophthalmos leading to retinal alterations but with preserved visual acuity and normal OCT and FA features.
A 23-year-old man presented with a decrease in vision in the left eye for 3 months. A general physical examination revealed unilateral facial atrophy with severe enophthalmos (Figure 1) noted by the patient at the age of 10 years that progressively increased over the subsequent 10 years and for which he received no treatment.
Hemifacial atrophy at presentation with severe enophthalmos.
On ophthalmic examination, vision was 20/20 in the right eye and 20/200 in the left eye, which improved with +2.75 DS to 20/20. The cornea was clear in both eyes, and there was no anterior chamber or vitreous cells in either eye. The pupils were normal in size, shape, and reaction, and the ocular movements were full and free. There was no strabismus. Findings from the right fundus examination were unremarkable, whereas the left fundus examination demonstrated choroidal folds (Figure 2).
Fundus photograph showing choroidal folds.
IOP measured by Goldmann applanation tonometry was 18 mm Hg in both eyes. Axial length measurement of the eyes by A-scan biometry was 23.50 mm in the right eye and 22.76 mm in the left eye. Hertel exopthalmometry yielded a reading of 22 mm in the right eye and 16 mm in the left eye at 98 mm bar reading. FA of both eyes revealed a normal arterio-venous filling with no leakage at the disc or macula (Figure 3).
Flourecein angiography of left eye showing a normal arterio-venous filling with no leakage at the disc or macula.
Spectral-domain OCT performed at the fovea with six radial scans revealed a normal study pattern with no intraretinal edema or retinal folds (Figure 4). Magnetic resonance imaging of the face and orbits revealed left-sided facial and orbital soft tissue atrophy but a normal left globe (Figure 5).
Spectral-domain OCT of left eye demonstrating a normal study pattern with no intraretinal edema or retinal folds.
Magnetic resonance imaging of the face and orbits revealing left-sided facial and orbital soft tissue atrophy but a normal left globe.
We referred the patient to our plastic surgery department, where his facial atrophy was managed with autologous fat infiltration (Figure 6).
Photograph of the patient after autologous fat infiltration.
Postoperatively, the patient was re-examined at 6 weeks, and no change was seen in the fundus and OCT scan of the macula (Figure 7).
Postoperative fundus photograph and spectral-domain OCT of the macula at 6 weeks showing persistent choroidal folds and no macular edema.
Several retinal alterations associated with visual loss such as dilated retinal veins, optic disc edema, cotton wool spots, retinal folds, retinal edema, stellate exudative neuroretinopathy, and exudative retinal detachment10 have been described in Parry-Romberg syndrome. Theodossiadis et al reported a case of Parry-Romberg syndrome with retinal nerve fiber layer edema, thickened hyperreflective vitreo-retinal interface, diffuse retinal edema, and retinal folds on OCT, with leakage of the optic disc vessels on fundus FA and visual loss.9 However, to the best of our knowledge, no case of Parry-Romberg syndrome with significant enophthalmos has been described with retinal changes on fundus examination but normal vision and unremarkable OCT and FA.
The retinal changes in our patient may be due to the severe orbital fat atrophy leading to enophthalmos and hence causing choroidal folds. However, no structural retinal damage to cause vision loss has yet occurred. A long-term follow-up of the patient may help in determining the course of retinal changes that might eventually cause a decrease in vision. Also, there was an apparent increase in the enophthalmos after the facial atrophy was managed with fat infiltration; however, the magnification effect of the convex glasses partially compensated for it. The patient did not experience any change in facial features during the 1 year of follow-up.
- Parry CH. Collections From the Unpublished Medical Writings of the Late Caleb Hillier Parry. London, UK: Underwoods; 1825:428
- Miller MT, Spencer MA. Progressive hemifacial atrophy: A natural history study. Trans Am Ophthalmol Soc. 1995;93:203–217.
- Muchnick RS, Aston SJ, Rees TD. Ocular manifestations and treatment of hemi-facial atrophy. Am J Ophthalmol. 1979;88(5):889–897.
- Rudolph G, Haritoglou C, Kalpadakis P, Schworm HD, Ehrt O, Boergen KP. Hemifacial atrophy (Parry-Romberg syndrome, #141300) with papillitis, retinal alterations, and restriction of motility. J AAPOS. 2002;6(2):126–129. doi:10.1067/mpa.2002.122520 [CrossRef]
- Hoang-Xuan T, Foster CS, Jakobiec FA, Tauber J, Sainz de la Maza M, Krebs W. Romberg’s progressive hemifacial atrophy: an association with scleral melting. Cornea. 1991;10(4):361–366. doi:10.1097/00003226-199107000-00014 [CrossRef]
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- Ford JG, Busbee B, Reed JW, Yu D. Hemifacial atrophy and primary corneal endothelial failure. Arch Ophthalmol. 1998;116(9):1246–1248.
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- Theodossiadis PG, Grigoropoulos VG, Emfietzoglou I, et al. Parry-Romberg syndrome studied by optical coherence tomography. Ophthalmic Surg Lasers Imaging. 2008;39(1):78–80. doi:10.3928/15428877-20080101-18 [CrossRef]
- Gass JDM, Harbin TS Jr, Del Piero EJ. Exudative stellate neuroretinopathy and Coats’ syndrome in patients with progressive hemifacial atrophy. Eur J Ophthalmol. 1991;1(1):2–10.