July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Peripheral polypoidal choroidal vasculopathy in Sorsby fundus dystrophy: Report of 2 cases.
Author Affiliations & Notes
  • Laure Van Bol
    Ophthalmology, Erasme Hospital , Brussels, Belgium
  • Irina Balikova
    Ophthalmology, Hôpital Brugmann, Belgium
  • Florence Rasquin
    Ophthalmology, Erasme Hospital , Brussels, Belgium
  • Footnotes
    Commercial Relationships   Laure Van Bol, None; Irina Balikova, None; Florence Rasquin, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 4996. doi:
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      Laure Van Bol, Irina Balikova, Florence Rasquin; Peripheral polypoidal choroidal vasculopathy in Sorsby fundus dystrophy: Report of 2 cases.. Invest. Ophthalmol. Vis. Sci. 2019;60(9):4996.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : To report for the first time a new phenotype of Sorsby fundus dystophy (SFD),
characterized by the presence of multiple peripheral polypoidal choroidal vasculopathy (PCV).

Methods : Retrospective review of medical records and multimodal imaging of 2 patients with clinical features consistent with SFD except the presence of peripheral PCV. Both individuals underwent genetic testing which confirmed a mutation of the TIMP3 gene.

Results : Both patients had a history of early visual loss in their fifties, a positive family history of early onset visual decline and presented with extensive drusen-like deposits, chorioretinal atrophy and recurrent choroidal neovascularization. They equally showed bilateral multiple polypoidal vascular abnormalities in the mid-peripheral retina. Genetic testing revealed the same heterozygous nucleotide substitution of C113G, causing a Ser38Cys change in Exon 1 of the N-terminal domain of the TIMP3 gene.

Conclusions : Multiple peripheral PCV has never been described among patients carrying a TIMP3 mutation. This study therefore expands the spectrum of phenotypic features of SFD and highlights the important role of ICG-A in the initial assessment and follow-up of patients with SFD.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.




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