ROD-CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Williams syndrome is a genetic disorder characterized by distinct facial features, cardiovascular problems, and developmental delays.
• Ocular manifestations in Williams syndrome are common but typically include strabismus, refractive errors, and optic nerve abnormalities.
• Rod-cone dystrophy is a group of inherited retinal diseases causing progressive vision loss.

Observation:

• A 14-year-old Asian Indian female with typical Williams syndrome features was evaluated for vision problems.
• Ophthalmic examinations revealed findings consistent with panretinal rod-cone dystrophy.
• Genetic analysis confirmed Williams syndrome by identifying a deletion in the elastin gene on chromosome 7.

Findings:

• The patient presented with advanced rod-cone dystrophy, affecting the entire retina.
• This case represents the first documented instance of rod-cone dystrophy in a patient with genetically confirmed Williams-Beuren syndrome.
• Multifocal and full-field electroretinography demonstrated widespread retinal dysfunction.

Implications:

• This association suggests a potential link between Williams syndrome and inherited retinal dystrophies.
• Further research is warranted to understand the genetic and molecular mechanisms underlying this association.
• Ophthalmologists should consider screening for retinal dystrophies in patients diagnosed with Williams syndrome.