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Woman presents with bilateral progressive ptosis
She also had lattice corneal dystrophy and drooping facial skin.
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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.
Images: Branchini LA, Heher KL
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.
Discussion
First described in 1969 by the Finnish ophthalmologist Jouko Meretoja, Meretoja syndrome is a systemic amyloidosis that presents with bilateral progressive facial paresis and lattice corneal dystrophy. It is caused by the accumulation of a 68 kDa product of abnormal fragmentation of the gelsolin gene. The two mutations that cause this defect (G654A or G654T) have been consistently found in all reported cases of this condition and portend the amino acid substitution Asp187Asn or Asp187Tyr. For this reason, Meretoja syndrome is also known as hereditary gelsolin amyloidosis (HGA).
HGA is inherited in an autosomal dominant fashion. Although it was first observed in Finnish families, pedigrees have been described the world over. The true incidence is unknown because there is variability in the amount of associated disability. A hallmark of HGA is marked cutaneous laxity. HGA is associated with cardiac conduction abnormalities including atrioventricular block and renal insufficiency ranging from intermittent proteinuria to nephritic syndrome necessitating dialysis or transplant. Peripheral neuropathies including multiple cranial neuropathies resulting in dysphagia and hearing loss are also a feature of HGA. Neuropathy may progress to ataxia in late stages. Arrhythmias are a fatal consequence of Meretoja syndrome. They may present earlier than the onset of facial paresis, which highlights the need to screen family members of affected patients.
Diagnosis is typically based upon clinical findings. Histologic evaluation can also be undertaken. Definitive genetic testing is available and can be done on paraffin-embedded samples up to 20 years after they were obtained.
Treatment is supportive with appropriate management of corneal erosions resulting from lattice dystrophy. Corneal transplantation may also be necessary in cases of significant visual loss from corneal scarring.
In a large retrospective series, Pihlamaa and colleagues reported 35 patients who had been treated surgically for ptosis between 1986 and 2004. Twenty of those patients required reoperation; blepharoplasty alone was insufficient to improve functional status, and forehead or brow lift was often necessary. The best outcomes occurred when forehead or brow lift was undertaken before blepharoplasty. The authors postulated that this may be because it was easier to titrate the amount of skin to excise during blepharoplasty to prevent exposure keratopathy. They also described a tendency toward exaggerated postoperative edema and hematoma. The number of surgeries was correlated with the amount of follow-up time.
Follow-up
Work-up for the potential systemic complications of Meretoja syndrome, including cardiac and renal evaluation, is ongoing. Genetic testing is also currently being pursued.
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- Pihlamaa T, et al. Plast Reconstr Surg. 2011;doi:10.1097/PRS.0b013e318213a0a2.
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- For more information:
- Lauren A. Branchini, MD, and Katrinka L. Heher, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.
- Edited by Kristen E. Dunbar, MD, and Kendra Klein, MD. They can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St, Box 450, Boston, MA 02111; website: www. neec.com.