Abstract
Purpose: :
To determine the natural history of mutation positive patients with Sorsby fundus dystrophy regarding the development of choroidal neovascularisation (CNVM) and visual loss. To report the outcome of thermal laser and photodynamic therapy (PDT) in those so treated.
Methods: :
Patients were ascertained from the retinal and genetic clinics of Moorfields Eye Hospital; all were positive for the Ser181Cys mutation in Exon 5 of the TIMP3 gene. Those diagnosed pre–symptomatically were included to reduce ascertainment bias. Kaplan–Meier survival analysis was applied to the events of presentation with CNVM, and loss of acuity to or below 20/200 in the first and second eyes. The outcome of those treated was reviewed retrospectively.
Results: :
Thirty patients with a mean follow–up of 120 months (24–240 months) were ascertained. Kaplan–Meier survival analysis showed that the median age to presentation with CNVM occuring in the first and second eyes was 47 and 50 years respectively. Median age to severe visual loss (≤ 20/200) in the first and second eyes was 45 and 59 years respectively. Loss of vision was due to CNVM in 22 patients and atrophy of the central macula in 6 patients. Difficulties with dark adaptation preceding CNVM was a commonly reported symptom. Of five patients treated with argon laser photocoagulation for extrafoveal CNVM all developed recurrence and a final acuity of ≤ 20/200 within 18 months of treatment. Of four patients who underwent PDT for subfoveal CNV all had acuity of less than 20/200 within 18 months of treatment.
Conclusions: :
The age–related survival curves from this study will improve the counselling of persons found positive for mutations in TIMP3. The development of CNVM is not universal in patients with this dystrophy. Thermal laser and PDT are not effective in treating CNVM of patients with this disorder.
Keywords: retinal degenerations: hereditary • clinical (human) or epidemiologic studies: natural history • clinical (human) or epidemiologic studies: risk factor assessment