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Lacrimal Puncta Agenesis in Kabuki Syndrome
M T Sarandeses Diez1, S Lemaitre, H Gonzalez-Valdivia
1Hospittal Dr. Josep Trueta, Girona, Spain.
Ophthalmic Plastic and Reconstructive Surgery
|December 3, 2019
Summary
This study reports the first known case of bilateral lacrimal puncta agenesis in a patient with Kabuki syndrome (KS). Early diagnosis and individualized treatment are crucial for managing this rare congenital disorder.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Kabuki syndrome (KS) is a rare genetic disorder with diverse systemic and facial anomalies.
- Ocular manifestations are common in KS, but lacrimal system abnormalities are infrequently reported.
Observation:
- A 29-year-old female patient with a confirmed KS diagnosis presented with recurrent conjunctivitis.
- Examination revealed bilateral lacrimal puncta agenesis, a previously undocumented association with KS.
Findings:
- The co-occurrence of bilateral lacrimal puncta agenesis and KS is presented as a novel finding.
- The patient's ocular dryness was exacerbated by topiramate, a medication used for KS management.
Implications:
- Lacrimal examination should be considered in the diagnostic workup of KS patients.
- Bilateral lacrimal puncta agenesis may be an underrecognized feature in the differential diagnosis of KS.
- Personalized treatment strategies are essential to address medication-induced ocular side effects in KS patients.
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