CHARGE syndrome without colobomas: Ophthalmic findings

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• CHARGE Syndrome is a complex genetic disorder with a wide range of clinical manifestations.
• Ophthalmic abnormalities are common in CHARGE Syndrome, but studies often focus on patients with colobomas.
• The CHD7 gene mutation is the primary molecular cause of CHARGE Syndrome.

Purpose of the Study:

• To investigate and document the spectrum of ophthalmic findings in patients diagnosed with CHARGE Syndrome who do not exhibit colobomas.
• To highlight the importance of ophthalmic evaluations in CHARGE Syndrome patients, irrespective of coloboma presence.
• To contribute to the understanding of visual impairment in CHARGE Syndrome without colobomas.

Main Methods:

• Retrospective analysis of ophthalmic data from 67 CHARGE Syndrome patients with confirmed CHD7 mutations.
• Inclusion criteria required the absence of any form of coloboma in either eye.
• Ophthalmic findings were reviewed from patient records at Cincinnati Children's Hospital Medical Center.

Main Results:

• 19.4% (13/67) of CHARGE Syndrome patients in the cohort lacked colobomas.
• Among these patients, common findings included strabismus (69.2%), refractive errors (76.9%), and nasolacrimal duct obstruction (38.5%).
• Other observed conditions were amblyopia, dry eye syndrome, ptosis, blepharitis, cortical visual impairment, optic nerve drusen, and Marcus Gunn Jaw Winking.

Conclusions:

• CHARGE Syndrome patients without colobomas present with a significant range of ophthalmic conditions.
• Absence of coloboma does not exclude CHARGE Syndrome; clinical suspicion warrants genetic testing.
• Comprehensive ophthalmic assessment and timely intervention are essential for managing visual health in CHARGE Syndrome patients.