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Publication Exclusive: Woman presents with bilateral progressive ptosis
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A 72-year-old Armenian woman was referred to the oculoplastics clinic at the New England Eye Center for evaluation of bilateral ptosis. She noticed gradual onset of drooping eyelids over the course of many years.
The patient’s medical history was significant only for medically well controlled hypertension and hypercholesterolemia. She was pseudophakic and had lattice corneal dystrophy. Of note, two of her children had lattice corneal dystrophy. Her brother and two children also had similar ptosis. She denied trauma, eye rubbing or chronic contact lens wear. She had no other infectious, neoplastic or inflammatory conditions or risk factors.
Examination
The patient’s best corrected visual acuity was 20/30 in both eyes. Pupils were round and equally reactive without evidence of an afferent pupillary defect or anisocoria in light or dark. Extraocular movements and IOPs were within normal limits. On slit lamp biomicroscopy, the cornea showed evidence of lattice corneal dystrophy. Posterior segment examination was normal.
Externally, the patient had drooping of her facial skin with weak frontalis and orbicularis muscles bilaterally. She also had difficulty with smiling and puffing her cheeks. She had symmetric dermatochalasis and brow ptosis with marginal reflex distances of 2 mm and levator functions of 12 mm. There was 1 mm to 2 mm of lower lid lag and ectropion accompanying significant lid laxity bilaterally as well (Figure 1). There was no evidence of tongue furrowing.
What is your diagnosis?
Bilateral ptosis
The diagnosis of Meretoja syndrome was made clinically based upon the presence of bilateral facial paresis and lattice corneal dystrophy in the setting of a strong family history of similar problems. Melkersson-Rosenthal syndrome was also considered. However, the patient did not have the characteristic history of facial swelling and tongue furrowing. Facioscapulohumeral muscular dystrophy may also present with bilateral facial paresis in childhood. She did not demonstrate the retinal telangiectasias that are found in this disease. The differential for non-heritable causes of bilateral facial paresis includes infections such as herpes simplex virus, Lyme disease, cytomegalovirus and HIV. Neoplastic causes include cutaneous T-cell lymphoma or bilateral schwannoma. Inflammatory conditions such as sarcoidosis and lupus may also rarely present this way.
Click here to read the full publication exclusive, Grand Rounds at the New England Eye Center, published in Ocular Surgery News U.S. Edition, September 25, 2015.