Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes
This retrospective observational case series is to evaluate the histopathological findings of drooping eyelids in patients with infantile-onset Pompe disease and assess the feasibility of levator muscle resection combined with conjoint fascial sheath suspension for ptosis correction. It included six...
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| Language: | English |
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Elsevier
2023-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426923000150 |
| _version_ | 1797822038370418688 |
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| author | Yi-Hua Chen Pei-Wei Huang Yu-Jen Liu Yueh-Ju Tsai |
| author_facet | Yi-Hua Chen Pei-Wei Huang Yu-Jen Liu Yueh-Ju Tsai |
| author_sort | Yi-Hua Chen |
| collection | DOAJ |
| description | This retrospective observational case series is to evaluate the histopathological findings of drooping eyelids in patients with infantile-onset Pompe disease and assess the feasibility of levator muscle resection combined with conjoint fascial sheath suspension for ptosis correction. It included six patients from a single tertiary referral center with ptosis and infantile-onset Pompe disease between January 1, 2013, and December 31, 2021. They most suffered from recurrent ptosis after initial surgical correction (6/11 eyes, 54.55%). The recurrence rate was high in eyes with levator muscle resection alone (4/6 eyes, 66.67%). No recurrence of ptosis was observed in eyes with levator muscle resection combined with conjoint fascial sheath suspension. The follow-up period was approximately 16–94 months. Histopathological examination revealed that the levator muscle had the most abundant glycogen accumulation-related vacuolar changes, followed by Müller's muscle and extraocular muscles. No vacuolar changes were observed in the conjoint fascial sheath. For patients with infantile-onset Pompe disease-related ptosis, performing levator muscle resection alone is not sufficient, while utilizing conjoint fascial sheath suspension can achieve the desired long-term outcomes with minimal recurrence. These findings may have important implications for the management of ophthalmic complications in patients with infantile-onset Pompe disease. |
| first_indexed | 2024-03-13T10:02:57Z |
| format | Article |
| id | doaj.art-282057b2b5c74a2d98cc443b6d0b1699 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-03-13T10:02:57Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-282057b2b5c74a2d98cc443b6d0b16992023-05-23T04:21:49ZengElsevierMolecular Genetics and Metabolism Reports2214-42692023-06-0135100969Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomesYi-Hua Chen0Pei-Wei Huang1Yu-Jen Liu2Yueh-Ju Tsai3Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanDepartment of Ophthalmology, Lo-Hsu Medical Foundation, Lotung Poh-Ai Hospital, Yilan, TaiwanCollege of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Anatomic Pathology, Linkou Chang Gung Memorial Hospital, Taoyuan, TaiwanDepartment of Ophthalmology, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Corresponding author at: Department of Ophthalmology, Chang Gung Memorial Hospital, No. 5, Fu-Hsing Street, Kwei Shan Dist., Taoyuan 33375, Taiwan.This retrospective observational case series is to evaluate the histopathological findings of drooping eyelids in patients with infantile-onset Pompe disease and assess the feasibility of levator muscle resection combined with conjoint fascial sheath suspension for ptosis correction. It included six patients from a single tertiary referral center with ptosis and infantile-onset Pompe disease between January 1, 2013, and December 31, 2021. They most suffered from recurrent ptosis after initial surgical correction (6/11 eyes, 54.55%). The recurrence rate was high in eyes with levator muscle resection alone (4/6 eyes, 66.67%). No recurrence of ptosis was observed in eyes with levator muscle resection combined with conjoint fascial sheath suspension. The follow-up period was approximately 16–94 months. Histopathological examination revealed that the levator muscle had the most abundant glycogen accumulation-related vacuolar changes, followed by Müller's muscle and extraocular muscles. No vacuolar changes were observed in the conjoint fascial sheath. For patients with infantile-onset Pompe disease-related ptosis, performing levator muscle resection alone is not sufficient, while utilizing conjoint fascial sheath suspension can achieve the desired long-term outcomes with minimal recurrence. These findings may have important implications for the management of ophthalmic complications in patients with infantile-onset Pompe disease.http://www.sciencedirect.com/science/article/pii/S2214426923000150Infantile onset Pompe diseasePtosisConjoint fascia sheathLevator musclePathology |
| spellingShingle | Yi-Hua Chen Pei-Wei Huang Yu-Jen Liu Yueh-Ju Tsai Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes Molecular Genetics and Metabolism Reports Infantile onset Pompe disease Ptosis Conjoint fascia sheath Levator muscle Pathology |
| title | Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes |
| title_full | Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes |
| title_fullStr | Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes |
| title_full_unstemmed | Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes |
| title_short | Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes |
| title_sort | blepharoptosis in infantile onset pompe disease histological findings and surgical outcomes |
| topic | Infantile onset Pompe disease Ptosis Conjoint fascia sheath Levator muscle Pathology |
| url | http://www.sciencedirect.com/science/article/pii/S2214426923000150 |
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