Chronic progressive external ophthalmoplegia plus

Chronic progressive external ophthalmoplegia (CPEO) is an uncommon mitochondrial myopathy that advances gradually, characterized by ophthalmoplegia and ptosis. CPEO can emerge as an isolated condition or as part of a syndrome involving additional neurological impairments, termed CPEO plus (CPEO+). CPEO+ requires comprehensive evaluation, where a multidisciplinary approach, encompassing neurological assessments of both central and peripheral systems, along with examinations of musculoskeletal and cardiac functions is recommended. Essential diagnostic tools include muscle biopsy, biochemical analysis of muscles, neuroradiological or orbital computed tomography/magnetic resonance imaging evaluation, and molecular genetic testing. Due to the scarcity of diagnostic facilities in sub‑Saharan Africa, including Tanzania, diagnosis of CPEO+ is delayed leading to patient suffering, however, its management remains intricate and noncurative. This article presents a rare case study of a 23‑year‑old male. He exhibits clinical, histological, and radiological characteristics consistent with CPEO+.

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Publication Details

Journal
Afrischolar Discovery
Published
2025-06-06
DOI
https://doi.org/10.60787/wajr.vol31no1.105
Primary Topic
Ophthalmology and Eye Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Chronic progressive external ophthalmoplegia plus

Afrischolar Discovery
Ophthalmology and Eye Disorders
article

Chronic progressive external ophthalmoplegia plus

article en

Abstract

Chronic progressive external ophthalmoplegia (CPEO) is an uncommon mitochondrial myopathy that advances gradually, characterized by ophthalmoplegia and ptosis. CPEO can emerge as an isolated condition or as part of a syndrome involving additional neurological impairments, termed CPEO plus (CPEO+). CPEO+ requires comprehensive evaluation, where a multidisciplinary approach, encompassing neurological assessments of both central and peripheral systems, along with examinations of musculoskeletal and cardiac functions is recommended. Essential diagnostic tools include muscle biopsy, biochemical analysis of muscles, neuroradiological or orbital computed tomography/magnetic resonance imaging evaluation, and molecular genetic testing. Due to the scarcity of diagnostic facilities in sub‑Saharan Africa, including Tanzania, diagnosis of CPEO+ is delayed leading to patient suffering, however, its management remains intricate and noncurative. This article presents a rare case study of a 23‑year‑old male. He exhibits clinical, histological, and radiological characteristics consistent with CPEO+.

Afrischolar Discovery
Muhimbili University of Health and Allied Sciences (TZ), Muhimbili National Hospital (TZ)
Good health and well-being
Openalex Percentile: Top 38%
Ophthalmology and Eye Disorders
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