Early Ptosis Repair in Two Patients with Distal Arthrogryposis Type 5D: A Case Series and Literature Review
Author: Lamees Alshaikh
Base Hospital / Institution: King Fahad Hospital of the University / Imam Abdulrahman Bin Faisal University
ePoster presentation
Abstract ID: 24-292
Purpose
Distal Arthrogryposis type 5D (DA5D) is a rare autosomal recessive genetic disease characterized by musculoskeletal contractures and weakness as well as ocular findings, specifically ptosis.
Methods
We hereby present a case series of two sisters, the product of a consanguineous marriage, who presented with unilateral severe congenital myogenic ptosis with poor levator palpebrae function, and an element of hypertropia of the ptotic eye. They both underwent early ptosis repair via frontalis suspension using a synthetic silicon sling followed by management of amblyopia. A thorough literature review of DA5D and associated ocular findings was also conducted and previously published cases were discussed.
Results
The patients achieved good exposure and good vision following the ptosis repair as well as treatment for amblyopia.
Conclusion
We report the importance of early ptosis repair in patients whose ptotic eye is obscuring the visual axis followed by prompt management of amblyopia in those cases. We have showcased that meticulous weighing of the desired outcome of visual function, sustained repair, and corneal health is of utmost importance. We also performed a thorough literature review to enable the audience to detect, diagnose, and manage cases of DA5D and their associated ophthalmological findings.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Hala | Nassim | King Fahad Hospital of the University / Imam Abdulrahman Bin Faisal University |
