Diagnostic Challenges of Chronic Progressive External Ophthalmoplegia in Ophthalmology Clinics
Nasser Karimi1 , Mohsen Bahmani Kashkouli1 *, Hossein Ghahvehchian1
- Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
Abstract: To identify and describe the diagnostic challenges in chronic progressive external ophthalmoplegia (CPEO), including the frequency of misdiagnosis, time lag to diagnosis, age at correct diagnosis, and time lag to the treatment of choice, i.e., palpebral fissure transfer surgery (PFT). Common initial misdiagnoses and potential ways to avoid them were also explored.
Design. a retrospective analysis of a clinical cohort
Methods: . Prior to PFT surgery, reliable data on previous diagnoses and treatments, age at definite diagnosis of CPEO, and clinical manifestations of the disease were recorded. To rely only on objective data, the time lag to diagnosis was exclusively calculated in those patients with documents of surgery prior to definite diagnosis of CPEO.
Main Outcome Measures. Misdiagnosis age, misdiagnostis rate and diagnostic delay were calculated.
Results: There were 32 patients (19 female, 13 male) with the mean age of 24.8 years (range 13-36) at final diagnosis and 34.1 years (range 15-56) at PFT in an oculofacial plastic surgery center. We detected a 25/32 (78.1%) initial misdiagnosis rate comprised of simple congenital ptosis (15/32, 46.9%) and ocular myasthenia gravis (OMG) (10/32, 31.2%). More than half of patients (18/32 patients, 56.2%) had a history of surgery before definite diagnosis of CPEO, at the mean age of 18.8 ± 3.9 years (range 15-29). This denotes a time lag of 6.2 ± 4.4 years (range 1-15) before diagnosis of CPEO (N=18, mean age 25.0 ± 5.2 years, range 18-35). There was a time lag to PFT of 14.7 ± 8.1 years (range 4-30) in patients with prior history of surgery (N=20).
Conclusion: A high rate of misdiagnosis (up to 78.1%) in CPEO patients occurs around the critical age of 18.8 ± 3.9 years when adolescents often make serious plans about their future life
(e.g., making a career or a family). Most misdiagnoses are likely preventable by reviewing patient’s early life family photos (to rule out false congenital conditions) and performing genetic tests (to rule in CPEO). OMG can closely resemble CPEO and distinguishing between the two can prove quite challenging.
