A 73-Year-Old Woman With Progressive Ptosis

Carlo R. Bernardino, MD

Disclosures

January 22, 2014

Systemic Evaluation

OPMD, CPEO, and MG can be confirmed with blood testing. In the case of OPMD and CPEO, the diagnosis is determined using polymerase chain reaction. Blood testing for MG is for antibodies to acetylcholine receptors.

Additional testing includes electromyography to identify muscle fatigability in MG. For CPEO, muscle biopsy with Gomori trichrome staining is performed to look for excessive ragged red fibers. Electrocardiography should also be performed to look for a subset of CPEO patients with Kearns-Sayre syndrome, for whom heart block is also present.

Clinical Course

Blood testing in this patient revealed defects in the PABPN1 gene consistent with OPMD. The patient was counseled to have family members also pursue genetic testing.

The patient underwent bilateral frontalis suspension surgery to address her ptosis. Silicone rods were used to link her forehead muscles (frontalis) to her ptotic eyelids to improve eye opening.

Discussion

In cases of recurrent ptosis, it is important to consider causes other than aponeurotic ptosis. Patients with OPMD have progressive ptosis and later develop difficulty swallowing. They often have a family history of progressive ptosis and multiple eyelid surgeries.

Examination is significant for marked ptosis with decreased levator function. Extraocular motility can be restricted but is oftentimes unaffected. Examination of the oral cavity may reveal palatal weakness.

The work-up can include genetic testing to look for a defect on the PABPN1 gene.

Treatment for the ptosis is surgical. If it is early in the disease process and levator function is near-normal, levator advancement surgery may be attempted. However, when levator function is limited later in the disease course, frontalis suspension is the treatment of choice.[4]

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