Type of publication:
Conference abstract
Author(s):
*Godbole K.; *Rao P.; Garikapati V.
Citation:
Eye (Basingstoke). Conference: The Royal College of Ophthalmologists Annual Congress 2025. Liverpool United Kingdom. 39 (pp 271-272), 2025. Date of Publication: 01 Jun 2025.
Abstract:
Introduction: To highlight the variations in the age of onset, disease progression and final treatment outcomes of Sorsby dystrophy in men and women. Method(s): Ten eyes of 5 patients presented to our centre over a period of 19 years (2005-2024) were included in this study. All patients were symptomatic and presented with subfoveal choroidal neovascular membranes in at least one eye. All patients had optical coherence tomography (OCT) scans, Fundus fluorescein angiography and genetic testing to confirm the diagnosis. All were positive TIMP 3 missense mutation chromosome 22. The treatment regime included oral steroids, photodynamic therapy(PDT) and intravitreal anti-vascular endothelial growth factor (vegf) injections. Result(s): Age: Average age at presentation was 34 years for females and 46 years for males. Sex: 3 females and 2 males from 2 unrelated families. Follow up period: Ranged from 3 to 19 years with average follow up period of 11.7 years. Three eyes received Argon laser, 2 received PDT, one oral steroid, 6 eyes had intravitreal anti-Vegf injections and 3 eyes had combination treatments. Argon laser treatment proved to be least effective with high rate of recurrences of choroidal neovascular membranes with subsequent loss of central vision. Anti-Vegf treatments were universally effective. Final Visual acuity varied from Hand movements to 6/6. Both male patients deteriorated rapidly, lost vision in both eyes and were registered blind within just 2 years of presentation. Whereas the three female patients on the contrary fared much better retaining useful vision for decades after their male counterparts lost their vision. Conclusion(s): In spite of the common gene defect, the age of onset and final visual outcomes seem vary widely between men and women. These variations were not reported previously. The disease manifested on average 12 years earlier in females than their male counterparts but the females achieved better visual outcomes. Females also required fewer intravitreal injections. Males also suffered severe form of maculopathy and lost all useful vision within 2 years of onset of disease. Smokers did much worse, and treatments proved less effective. These new findings would help to deliver the prognosis more accurately when counselling patients. Male members of the Sorsby family may also benefit from a closer monitoring.
DOI: 10.1038/s41433-025-03831-0
