Copyright 1998 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.1998
Hemifacial atrophy (Parry-Romberg syndrome) is characterized by a slowly progressive atrophy of the skin, subcutaneous tissue, and muscle and bone of the face, usually beginning in the first 2 decades of life.1 This disease progresses through an active phase of decompensation, generally lasting 2 to 10 years, followed by a quiescent phase without continued atrophy.2 Ocular findings most commonly described include progressive enophthalmos, restrictive strabismus, pupillary disturbances, heterochromic iridocyclitis, and blepharoptosis.1,3 To our knowledge, this case is the first report of primary corneal endothelial failure and penetrating keratoplasty in association with Parry-Romberg syndrome.
A 59-year-old woman with a history of left hemifacial atrophy since age 15 years had continuous pain in the left eye that was unresponsive to topical lubricants. She had a history of ocular hypertension treated with a topical β-blocker and a single episode of iritis in the left eye.
Ophthalmic examination revealed soft tissue atrophy of the left side of the patient's face (Figure 1). The eye examination grossly revealed enophthalmos and approximately 2-mm lagophthalmos on the left side. Best-corrected visual acuity was 20/20 OD and 20/60 OS. Ocular motility was normal. The left pupil was sluggish in its reactivity and slightly oval, but there was no relative afferent pupillary defect. The corneal sensitivity was decreased on the left side. Biomicroscopy confirmed that the right eye was normal. The left eye was injected with full-thickness edema of the inferior two thirds of the cornea and microcystic epithelial changes (Figure 2); the endothelium was found to have a beaten-metal appearance. The anterior chamber was quiet, and the lens was clear. Intraocular pressure was 13 mm Hg OS confirmed by pneumotonometry. No intraocular pressure was recorded in the right eye. The cup-disc ratio was 0.2 OD and 0.3 OS. Findings from the remainder of the funduscopic examination were unremarkable. Specular microscopy revealed 2100 cells/mm2 OD and 300 cells/mm2 OS.
A, Patient at age 5 years has facial symmetry. B, Patient at age 16 years, 1 year after the onset of hemifacial atrophy, demonstrates left-sided facial atrophy and enophthalmos. C, Patient at age 59 years demonstrates same findings.
Slitbeam view demonstrating edema of the stroma and epithelium of the left cornea (original magnification ×16). Inset, Slitbeam view of patient's left cornea (original magnification ×10).
The patient underwent penetrating keratoplasty for persistent pain and worsening vision in July 1987. Histological examination of the corneal specimen revealed scant endothelial cells and epithelial edema. She subsequently underwent cataract extraction with lens implantation (July 1988) and medial canthoplasty (January 1989) for exposure. She did well until 3 years after undergoing transplantation when bullous keratopathy from graft failure without signs of rejection developed. She underwent a second penetrating keratoplasty (December 1990) and, during the last 7 years, her corneal transplant has remained clear with good visual acuity (20/30 OS). She has had no bouts of iritis, and the intraocular pressure has remained in good control while receiving topical therapy.
The cause of corneal endothelial decompensation in this patient is most likely primary endothelial failure. The patient had normal endothelial cell counts and endothelial morphology in the right eye. Although this patient did experience an episode of acute iritis, no stigmata of chronic iritis were present that would lead one to believe that the endothelium decompensated from this (that has been reported by Grayson and Pieroni4 as a cause of bullous keratopathy in this syndrome). Ocular hypertension is an unlikely cause for the decompensation in this case.
We hypothesize that the primary corneal endothelial failure and the hemifacial atrophy in this case are linked. The etiology of hemifacial atrophy is uncertain. Since the corneal endothelium, skin, soft tissues, and bones of the face are of neural crest origin, a genetic defect causing an abnormality in the maintenance of these tissues could explain the primary degeneration observed.
Corresponding author: Jerry G. Ford, MD, Wake Forest University Eye Center, Sixth Floor, Clinical Sciences Bldg, Medical Center Boulevard, Winston-Salem, NC 27157.
Ford JG, Busbee B, Reed JW, Yu D. Hemifacial Atrophy and Primary Corneal Endothelial Failure. Arch Ophthalmol. 1998;116(9):1246-1248. doi: