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Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes
Yi-Hua Chen1,2, Pei-Wei Huang3, Yu-Jen Liu2,4
1Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Insights
Infantile-onset Pompe disease causes eyelid drooping (ptosis). Combining levator muscle resection with conjoint fascial sheath suspension effectively corrects ptosis and prevents recurrence, unlike resection alone.
Area of Science:
- Ophthalmology
- Genetics
- Neuromuscular Disorders
Background:
- Infantile-onset Pompe disease (IOPD) is a rare genetic disorder.
- Ptosis is a common ophthalmic complication in patients with IOPD.
- Previous surgical interventions for ptosis in IOPD have shown high recurrence rates.
Observation:
- This case series evaluated six patients with IOPD and ptosis.
- Histopathology revealed glycogen accumulation in levator and Müller's muscles.
- Recurrent ptosis was noted in 54.55% of eyes after initial surgery.
- Levator muscle resection alone had a 66.67% recurrence rate.
Findings:
- Conjoint fascial sheath suspension combined with levator muscle resection showed no recurrence in observed cases.
- The conjoint fascial sheath remained unaffected by vacuolar changes.
- This combined surgical approach appears more effective for long-term ptosis correction in IOPD.
Implications:
- Findings suggest conjoint fascial sheath suspension is crucial for successful ptosis repair in IOPD.
- This approach may improve long-term ophthalmic outcomes for children with IOPD.
- Highlights the importance of understanding muscle pathology in managing IOPD-related ptosis.
Abstract:
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.
