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Sorsby fundus dystrophy (SFD) is a dominantly inherited macular dystrophy in which bilateral central visual loss occurs in the fifth decade of life.1 Duke-Elder and Perkins described it as pseudo-inflammatory macular dystrophy.2 It is now known to be caused by mutations in exon 5 of the gene for TIMP3,3 tissue inhibitor of metalloproteinases-3. The disorder has variable expressivity and signs vary depending on age at review, but common fundus characteristics include diffuse fine yellow-white deposits, macular choroidal neovascularistion (CNV), and delayed choroidal filling and retinal pigment epithelial (RPE) mottling on fluorescein angiography (FFA). Later stages include atrophy of the macula and periphery.1,2
Punctate inner choroidopathy (PIC) is characterised by multiple yellow opacities at the level of the inner choroid of the posterior pole and mid periphery without other evidence of inflammation. CNV is a frequent complication which responds to steroid treatment.4
We describe a patient who presented with clinical signs consistent with PIC complicated by bilateral CNV. The CNV was treated over a period of six years using either oral or subTenon steroids with improvement in vision. She was subsequently found to have SFD.
A 36 year old woman presented with a two month history of difficulty reading with the left eye. Past ocular and medical history were unremarkable except for mild myopia (−2.00 dioptres).
On examination, visual acuities …
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