Antiangiogenic therapy in Sorsby's fundus dystrophy without a mutation in the TIMP-3 gene

Case reportThe case is presented of a 32-year-old man referring to metamorphopsia and blurred vision in both eyes for 3 days. Best corrected visual acuity of 20/32 was found in the right eye and 20/25 in the left eye. Fundus examination revealed the presence of drusen-like deposits, suggestive of Sorsby's fundus dystrophy (SFD) and choroidal neovascularization (CNV) bilaterally. The patient received intravitreal ranibizumab. Visual acuity improved to 20/20 in both eyes at 6-month follow-up, and results of fundus examination showed complete regression of neovascularization. No mutations were found in the TIMP-3 gene.DiscussionThe known mutations in TIMP-3 may not be extended to all patients with SFD. The use of intravitreal ranibizumab may be considered as a therapeutic option in CNV secondary to SFD.

ResumenCaso clínicoVarón de 32 años, con metamorfopsias y visión borrosa bilateral de tres días de evolución. Mejor agudeza visual corregida de 20/32 en OD y 20/25 en OI. La funduscopia presenta lesiones amarillentas difusas sugerentes de distrofia de Sorsby y membranas neovasculares (MNV). Recibió tratamiento con ranibizumab intravítreo, mejorando la agudeza visual a 20/20 en ambos ojos y remitiendo las MNV. No se hallaron mutaciones conocidas de TIMP-3.DiscusiónLas mutaciones conocidas en TIMP-3 pueden no estar extendidas a todos los pacientes con fondo de distrofia de Sorsby. El ranibizumab intravítreo debe considerarse para el tratamiento de MNV secundaria a esta enfermedad.