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. 2014 Jul 27;35(10):1187–1194. doi: 10.1002/humu.22626

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© 2014 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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Clinical presentation of STGD1 in patient 25. Fundus photos of the right (A) and left (B) eyes of patient 25 (homozygous for p.V989A mutations), show bull's eye-appearing macular lesions with macular flecks and well-demarcated atrophic areas in both eyes. Horizontal spectral-domain optical coherence tomography (C and D) line scans show loss of inner-segment ellipsoid and outer nuclear layers in the parafovea of the each eye. Corresponding infrared scanning laser ophthalmoscopy images (right side of C and D) shows some hypo-reflectance in the parafoveal areas, with hyper-reflectance primarily in the areas of the demarcated atrophic lesions. Short-wavelength fundus autofluorescence (E and F) highlights bull's eye-appearing macular lesions in each eye. Macular flecks are hyper-autofluorescent, while localized loss of RPE cells are evidenced by the well demarcated hypo-autofluorescent regions.