Changes in ocular motility in Kabuki syndrome

Area of Science:

• Genetics
• Ophthalmology
• Pediatrics

Background:

• Kabuki syndrome is a rare genetic disorder caused by mutations in KMT2D or KDM6A genes.
• It presents with characteristic facial features, developmental delays, and skeletal anomalies.
• Ocular manifestations are common, necessitating prompt ophthalmological evaluation.

Observation:

• This case series details five children with Kabuki syndrome.
• Four of the five children presented with strabismus, specifically esotropia.
• Associated findings included inferior oblique overaction, superior oblique underaction, and a V-pattern strabismus.

Findings:

• Strabismus is a highly prevalent ocular anomaly in Kabuki syndrome.
• The specific pattern observed suggests complex neuromuscular dysfunction affecting eye movements.
• Published literature may underestimate the frequency and complexity of ocular problems in Kabuki syndrome.

Implications:

• Routine ophthalmological screening is vital for early detection of visual impairment in Kabuki syndrome patients.
• Orbital MRI may aid in diagnosing the underlying causes of eye movement abnormalities.
• Further research is needed to fully understand and manage the ocular manifestations of Kabuki syndrome.