Purpose
Tissue inhibitor of metalloproteinases-3 (TIMP3) is mutated in Sorsby fundus dystrophy (SFD). In this AD disease central vision loss is due to choroidal neovascularization (CNV). The purpose of this study is to report the long term results of treatment with intravitreal bevacizumab (IVB).
Methods
Retrospective case note review of 7 eyes of 4 patients with CNV secondary to SFD treated with IVB injections (0.05 mL, 1.25 mg) performed. In one eye, 1 session of PDT was carried out before. Best-corrected visual acuity (BCVA) ETDRS L charts, optical coherence tomography (OCT), and/or fluorescein angiography (FFA) before and after treatment were assessed. Number of visits post-1st CNV activity, number of injections, and number of recurrences were recorded. Recurrence of CNV activity was defined as the presence of active CNV based on OCT, FFA or subjective change in symptoms after a minimum of 2 follow-up visits with no evidence of CNV after a previous IVB.
Results
All patients had a family history of SFD. DNA analysis confirmed mutation c.610A>T (p.Ser204Cys) in exon 5 of TIMP3 gene in all patients. All patients were female, age ranged from (39-48) years (mean: 44 years). The follow-up period ranged from 11 to 95 months (median: 23 months). BCVA ranged from 35 to 83 L (median: 57 L) at the time of the 1st CNV activity. The number of visits post-1st CNV activity ranged from (5-68) visits (median: 29 visits), number of IVB ranged from (1-55) IVB (median: 7 IVB), and number of recurrences ranged from (0-13 recurrences) (median: 4 recurrences). At their respective last follow-up visit, BCVA ranged from (25-80) L (median: 63 L) . In 3 eyes BVCA improved by a range of (+1-+39) L, with a Mean Change from Baseline in BCVA of +16.7 L. In 4 eyes visual acuity declined by a range of (-4 to -32) L, with a Mean Change from Baseline in BCVA of -17.5 L. The main macular OCT finding that characterised BCVA decline despite treatment was atrophic changes, fibrosis or a combination of both.
Conclusions
Intravitreal bevacizumab ameliorates the rapid vision loss seen in SFD patients affected by CNV. This effect is sustained for up to 95 months but careful follow up is necessary to promptly treat recurrent CNV. Macular scarring can progress despite treatment but the area of scar tissue appears less with bevacizumab treatment of natural history.