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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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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

Optometry and Vision Science : Official Publication of the American Academy of Optometry
|January 6, 1999
PubMed

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.
Abstract

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