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Bilateral macular dysplasia in fragile X syndrome
B S Kranjc1, A Brezigar, B Peterlin
1University Eye Hospital, Ljubljana, Slovenia. branka.stirn@guest.arnes.si
Insights
This study reports a case of macular dysplasia in a child with fragile X syndrome (FXS). This eye condition may cause visual deficits and nystagmus in children with FXS.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Pediatrics
Background:
- Fragile X syndrome (FXS) is a genetic disorder associated with intellectual disability.
- Ocular dysfunctions in children with FXS are not well-documented.
- Limited research exists on the specific eye conditions present in pediatric populations with FXS.
Observation:
- A preschool-aged boy with FXS presented with bilateral macular dysplasia.
- Detailed ocular features, phenotypic, and genetic expressions were recorded.
- The patient's mother was an expansion mutation carrier, and his sister had learning disabilities and other ocular issues.
Findings:
- This case represents the first reported association between macular dysplasia and fragile X syndrome.
- Macular dysplasia may be an incidental finding rather than a direct feature of FXS.
- Macular dysplasia could contribute to visual deficits and nystagmus in individuals with FXS.
Implications:
- Highlights the importance of comprehensive ophthalmological evaluations in children with FXS.
- Suggests macular dysplasia as a potential cause of visual impairment in FXS.
- Warrants further research into the prevalence and significance of macular dysplasia in fragile X syndrome.
Purpose:
Few studies have investigated the eye and vision dysfunctions of children with the fragile X syndrome.
Case Report:
We report on a preschool boy with bilateral macular dysplasia and fragile X syndrome. His ocular features and phenotypic and genetic expressions are described. His mentally normal mother was identified as an expansion mutation carrier, and his older sister has learning disabilities, astigmatic refractive error, squint, and mild ptosis. Intrauterine infection has been excluded.
Conclusion:
To our knowledge, the association of macular dysplasia with fragile X syndrome has not been reported. The finding of macular dysplasia might be a coincidental developmental disorder and not a part of the syndrome. It could be considered a condition causing visual deficit with nystagmus in fragile X syndrome.