Karimi Nasser, Ghahvehchian Hossein, Keyhani Ali, Manavishad Amir, Compton Christopher J, Clark Jeremy D, West Nicole L, Kashkouli Mohsen B
Department of Ophthalmology, Eye Research Center, The Five Senses Health Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Department of Ophthalmology and Visual Sciences, University of Louisville School of Medicine, Louisville, Kentucky, USA.
J Ophthalmic Vis Res. 2024 Sep 16;19(3):334-339. doi: 10.18502/jovr.v19i3.13998. eCollection 2024 Jul-Sep.
Since ptosis is an early feature of chronic progressive external ophthalmoplegia (CPEO), patients are commonly misdiagnosed with other causes of ptosis. This study aims to report the type and frequency of misdiagnosis and time lag to diagnosis and the palpebral fissure transfer (PFT) procedure in patients with CPEO.
This is a retrospective analysis of consecutive patients with CPEO who underwent PFT between 2006 and 2017. The data on previous diagnoses and treatments, age at definitive diagnosis of CPEO, and clinical manifestations were recorded. While the diagnosis of CPEO was based on clinical examination, 75% (24/32) of patients had undergone a confirmatory muscle biopsy and genetic tests.
There were 32 patients (19 females) with a 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. Also, 78% (25/32) of patients had been initially misdiagnosed with congenital ptosis (60%; 15/25) and ocular myasthenia gravis (OMG) (40%; 10/25). The majority of patients (20/32) had one to three previous eyelid surgical procedures, of which 90% (18/20) were performed before the definitive diagnosis of CPEO. The mean time lag from the first surgical procedure to CPEO diagnosis and PFT was 6.2 and 14.7 years, respectively.
In a referral center, 78% of the patients with CPEO were initially misdiagnosed with congenital ptosis and OMG, and 56% of them underwent ptosis repair before the diagnosis. While the onset of the disease was in the first or second decades of life, diagnosis was delayed up to a mean age of 25 years. Reviewing early family photos and paying attention to other signs of CPEO could prevent misdiagnosis.
由于上睑下垂是慢性进行性外眼肌麻痹（CPEO）的早期特征，患者常被误诊为其他原因导致的上睑下垂。本研究旨在报告CPEO患者的误诊类型和频率、诊断延迟时间以及睑裂转移（PFT）手术情况。
这是一项对2006年至2017年间接受PFT的连续性CPEO患者的回顾性分析。记录既往诊断和治疗情况、CPEO确诊时的年龄以及临床表现。虽然CPEO的诊断基于临床检查，但75%（24/32）的患者接受了确诊性肌肉活检和基因检测。
最终诊断时有32例患者（19例女性），平均年龄24.8岁（范围13 - 36岁），接受PFT时平均年龄34.1岁（范围15 - 56岁）。此外，78%（25/32）的患者最初被误诊为先天性上睑下垂（60%；15/25）和眼肌型重症肌无力（OMG）（40%；10/25）。大多数患者（20/32）曾接受过一至三次先前的眼睑手术，其中90%（18/20）在CPEO确诊前进行。从首次手术到CPEO诊断和PFT的平均延迟时间分别为6.2年和14.7年。
在一个转诊中心，78%的CPEO患者最初被误诊为先天性上睑下垂和OMG，其中56%在诊断前接受了上睑下垂修复手术。虽然疾病发病于生命的第一个或第二个十年，但诊断延迟至平均25岁。查看早期家庭照片并关注CPEO的其他体征可预防误诊。
