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Zermatt macular dystrophy is a dominantly inherited pattern dystrophy caused by the R172W mutation of the RDS/peripherin gene and named after the Zermatt area of Switzerland.1 It shows small and round macular drusen early in life which are characterised by a very bright and early hyperfluorescent pattern suggestive of basal laminar drusen.1 Geographical atrophy occurs during the end stage of the disease. Stargardt dystrophy is a common recessively inherited disease caused by mutations in the ABCA4 gene2 with yellow-white, irregularly shaped flecks at the level of the retinal pigment epithelium (RPE) and atrophy occurring later as the disease progresses.3
A 45-year-old woman with a 10-year history of a retinal dystrophy resulting from an R172W mutation in the RDS/peripherin gene (Zermatt dystrophy) presented with a 6-week history of visual loss in the left eye. On presentation, the Snellen best-corrected visual acuity (BCVA) was 0.3 in both eyes. Eight weeks before the described symptoms, visual acuity was recorded as 0.3 in the right and 0.8 in the left eye, and a normal foveal depression was observed on optical coherence tomography (OCT) (right eye: 128 μm; left eye: 148 μm) (Zeiss-Meditec, Dublin, California). Complete ophthalmic examination, autofluorescence, fluorescein angiography and OCT were performed (fig 1).
A 43-year-old man, who was diagnosed 2 months previously with Stargardt …