Clinical course and treatment outcomes of Sorsby fundus dystrophy

Am J Ophthalmol. 2008 Aug;146(2):228-234. doi: 10.1016/j.ajo.2008.03.024. Epub 2008 May 23.


Purpose: To analyze the natural history of Sorsby fundus dystrophy and the effect of various treatment methods for choroidal neovascularization (CNV) in this dystrophy.

Design: Historical cohort study.

Methods: A cohort of 42 patients with the Ser181 Cys TIMP3 mutation were identified from the electronic database of genetic retinal diseases in Moorfields Eye Hospital. Retrospective analyses of case records were carried out. Serial best-corrected visual acuity, fundus findings, age at onset of CNV, initial location of CNV, time taken for CNV to progress to subfoveal location, and the interval between development of CNV in the first and second eye were recorded. The time taken for CNV to recur to a subfoveal location in patients in whom argon laser photocoagulation was carried out for extrafoveal CNV also was documented. In cases where photodynamic therapy (PDT) was carried out for subfoveal CNV, the visual outcome, number of PDT treatments, and progression of lesion size were noted.

Results: The median age at onset of CNV in the first eye was 46.1 years and in the second eye was 50.3 years. The mean interval between the development of CNV in the first and second eye was 4.5 years. The median age at which vision fell to 20/200 or below was 48 years (first eye) and 54 years (second eye). Argon laser therapy and PDT are not effective in treating CNV of patients with this dystrophy. Antiangiogenic agents may be more effective in this condition.

Conclusions: The main cause of blindness resulting from this dystrophy is CNV. Antiangiogenic agents may be useful in preventing visual loss as a result of this condition.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Angiogenesis Inhibitors / therapeutic use
  • Atrophy
  • Blindness / etiology
  • Blindness / prevention & control
  • Choroidal Neovascularization / complications
  • Choroidal Neovascularization / diagnosis*
  • Choroidal Neovascularization / therapy*
  • Combined Modality Therapy
  • Female
  • Fundus Oculi*
  • Genes, Dominant
  • Humans
  • Laser Coagulation
  • Male
  • Middle Aged
  • Photochemotherapy
  • Pigment Epithelium of Eye / pathology
  • Point Mutation
  • Prognosis
  • Retinal Degeneration / diagnosis*
  • Retinal Degeneration / genetics
  • Retinal Degeneration / therapy*
  • Retrospective Studies
  • Tissue Inhibitor of Metalloproteinase-3 / genetics
  • Tomography, Optical Coherence
  • Visual Acuity


  • Angiogenesis Inhibitors
  • TIMP3 protein, human
  • Tissue Inhibitor of Metalloproteinase-3