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TIMP3 c.319C>T, p.(Arg107Cys): Novel Sequence Variant In Sorsby Fundus Dystrophy.

Rozaliya Hristova1, Nevyana Veleva, Alexander Oscar

  • 1Department of Ophthalmology, University Hospital Alexandrovska, Sofia, Bulgaria; Department of Ophthalmology, Medical University Sofia, Sofia, Bulgaria.

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This case report links the TIMP3 c.319C>T variant to Sorsby fundus dystrophy, suggesting it is likely pathogenic. This finding advances understanding of inherited retinal diseases.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Sorsby fundus dystrophy is a rare, autosomal dominant inherited retinal disease.
  • This report investigates a novel TIMP3 gene variant, c.319C>T (p.Arg107Cys), initially classified as a variant of uncertain significance.
  • The study aims to establish a link between this variant and the clinical presentation of Sorsby fundus dystrophy.

Observation:

  • A 51-year-old female presented with presenile cataract and nyctalopia.
  • Ophthalmological examination revealed bilateral drusenoid deposits, reduced visual fields, and peripheral drusen on OCT.
  • Electroretinography showed reduced scotopic function, and genetic testing identified the heterozygous TIMP3 c.319C>T variant without other causative mutations.

Findings:

  • The novel TIMP3 c.319C>T, p.(Arg107Cys) variant was identified in a patient with Sorsby fundus dystrophy.
  • Clinical findings, including visual impairment and retinal abnormalities, correlated with the genetic identification.
  • The study proposes classifying the TIMP3 c.319C>T variant as likely pathogenic for Sorsby fundus dystrophy.

Implications:

  • This evidence supports the pathogenicity of the TIMP3 c.319C>T variant in Sorsby fundus dystrophy.
  • The findings contribute to a more accurate genetic diagnosis and understanding of this inherited retinal disease.
  • This research may aid in future diagnostic strategies and potential therapeutic developments for Sorsby fundus dystrophy.