Type and Frequency of Misdiagnosis and Time Lag to Diagnosis in patients with Chronic Progressive External Ophthalmoplegia
ناصر کریمی1 *, Mohsen Bahmani Kashkouli2 , Hossein Ghahvehchian2
- Department of Ophthalmology, Eye Research Center, The Five Senses Health Institute,
Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
- Department of Ophthalmology, Eye Research Center, The Five Senses Health Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Abstract: Background/Objective: While ptosis is the common feature of chronic progressive external
ophthalmoplegia (CPEO), visual impairment, poor blinking, exposure keratopathy, thinning of
the outer retinal layers, and the retinal nerve fiber layer defects are other ophthalmic findings. 1-5
Elevated serum levels of alanine, lactate, creatine kinase, and fibroblast growth factor 21
(FGF21), as well as abnormal urine organic acid profiles are Para clinical findings in CPEO. 1,5
We recently published the long-term results of the palpebral fissure transfer (PFT) procedure for
ptosis repair of patients with CPEO. 3 This is the second part of the CPEO study in which we
aimed to report the type and frequency of misdiagnosis and time lag to diagnosis and the PFT
procedure.
Methods: Methods: This is a retrospective analysis of consecutive CPEO patients who underwent PFT for
correction of ptosis (2006-2017). Data on previous diagnoses and treatments, age at definite
diagnosis of CPEO, and clinical manifestations of the disease were recorded. While the diagnosis
of CPEO was based on clinical examination, 3 75% (24/32) of them had a confirmatory muscle
biopsy and genetic tests which were performed for another project. 5 Excluded were patients with
other types of ptosis or follow-up of fewer than 2 years.
Results: Results: There were 32 patients (19 females) with the mean age of 24.8 years (range 13-36) at
the final diagnosis and 34.1 years (range 15-56) at the time of PFT procedure. Kearns Sayre
syndrome was detected in 4/32 (12.5%) patients. Misdiagnosis was observed in 78% (25/32) of
patients whose initial diagnosis was simple congenital ptosis in 60% (15/25) and ocular
myasthenia gravis (OMG) in 40% (10/25). Majority of the patients (20/32) had a history of 1-3
previous eyelid surgeries (other than PFT) from whom 90% (18/20) were before definite
diagnosis of CPEO. Mean time lag from the first surgery to CPEO diagnosis and PFT procedure
were 6.2 and 14.7 years, respectively.
Conclusion: Conclusion: More than ¾ of the patients with CPEO are initially misdiagnosed. Definite
diagnosis is delayed up to the end of 3 rd decade with a mean time lag of 6 years. Congenital
ptosis and OMG were the misdiagnoses. Reviewing patient’s early life family photos for all the
suspicious patients and performing genetic tests and muscle biopsy for selected ones are
recommended to lower the frequency of misdiagnosis.
