Sorsby fundus dystrophy (SFD): A narrative review

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• Sorsby fundus dystrophy (SFD) is a rare autosomal dominant macular disorder caused by mutations in the TIMP-3 gene.
• It is characterized by complete penetrance and affects central vision.

Purpose of the Study:

• To provide an overview of Sorsby fundus dystrophy pathophysiology, current treatments, and future research directions.
• To explore advancements in cell culture for modeling SFD and understanding its molecular mechanisms.

Main Methods:

• A comprehensive literature search was conducted across major scientific databases (PubMed, Web of Science, Scopus, etc.).
• Review of existing research on SFD, including pathophysiology, treatment outcomes, and emerging technologies.

Main Results:

• The precise molecular mechanisms of SFD remain incompletely understood.
• Anti-vascular endothelial growth factor (anti-VEGF) therapy is the primary treatment for secondary choroidal neovascularization (CNV), a major complication.
• Prompt detection and treatment of CNV offer a good prognosis for maintaining functional vision.

Conclusions:

• Currently, no gene therapy exists for SFD.
• While a definitive cure is lacking, timely anti-VEGF treatment for CNV can preserve functional vision in SFD patients.
• Advancements in cell culture, like induced pluripotent stem cells, hold promise for future SFD research and therapeutic development.