Sorsby fundus dystrophy (SFD): A narrative review

Abstract

Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disorder with complete penetrance affecting the macula. This is caused by a mutation in the TIMP-3. This objective narrative review aims to provide an overview of the pathophysiology, current treatment modalities, and future perspectives. A literature search was performed using "PubMed," "Web of Science," "Scopus," "ScienceDirect," "Google Scholar," "medRxiv," and "bioRxiv." The molecular mechanisms underlying SFD are not completely understood. Novel advancements in cell culture techniques, including induced pluripotent stem cells, may enable more reliable modeling of SFD. These cell culture techniques aim to shed more light on the pathophysiology of SFD, and hopefully, this may lead to the future development of treatment strategies for SFD. Currently, no gene therapy is available. The main treatment is the use of anti-vascular endothelial growth factors (anti-VEGF) to treat secondary choroidal neovascular membrane (CNV), which is a major complication observed in this condition. If CNV is detected and treated promptly, patients with SFD have a good chance of maintaining a functional central vision. Other treatment modalities have been tried but have shown limited benefit, and therefore, have not managed to be more widely accepted. In summary, although there is no definitive cure yet, the use of anti-VEGF treatment for secondary CNV has provided the opportunity to maintain functional vision in individuals with SFD, provided CNV is detected and treated early.Abbreviations: AMD = age-related macular degeneration, CNV = choroidal neovascular membrane, iPSC = induced pluripotent stem cells, LogMAR = logarithm of Minimum angle of resolution, PDT = photodynamic therapy, PRN = pro re nata, RPE = retinal pigment epithelium, SFD = Sorsby fundus dystrophy, T&E = treat and extend, TIMP-3 = tissue inhibitor of metallproteinase-3, TNF-α = tumor necrosis factor-α, VEGF = vascular endothelial growth factor, VEGFR = vascular endothelial growth factor receptor.

Angioid Streaks Remain a Challenge in Diagnosis, Management, and Treatment

“…CNV presents the most significant risk to vision in AS patients, with anti-VEGF treatments offering variable outcomes [ 3 , 5 ]. Patients should be informed about CNV risks, advised on regular self-monitoring, and cautioned against activities risking ocular trauma [ 5 , 181 ]. The advent of anti-VEGF therapies, particularly faricimab, has notably improved visual outcomes in CNV, with future studies expected to further confirm its benefits.…”

Retinal Imaging Findings in Inherited Retinal Diseases

“…In OCT, these deposits appear similar to subretinal drusenoid deposits. During the advanced stages of the disease, the phenotype is complicated by atrophy and macular neovascularization [140].…”

Atypical Presentation Revealing Sorsby Macular Dystrophy: A Case Report

“…The mechanisms surrounding Sorsby macular dystrophy remain incompletely understood. While Sorsby and other researchers suggested an inflammatory basis for the disease [2], Duke-Elder introduced the term "Sorsby's pseudo-inflammatory fundus dystrophy" in light of his skepticism regarding the inflammatory pathway, thus providing a nuanced scientific perspective on the condition [3]. It is characterized by the development of choroidal, retrofoveal neovascularization, often bilateral, usually around the age of 40 [1].…”