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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Fig. 1

Short-wavelength fundus autofluorescence and wide-field color fundus photographs of three patients with mutations in TTLL5. P1 presented with cone–rod dystrophy characterized by sectoral atrophy affecting the macula and inferonasal retina with intraretinal pigment migration and exposure of the deep choroidal vessels (A). P2 exhibited a small central bull’s eye lesion and RPE mottling more pronounced in the right eye than the left (B). The fundus of P3 revealed prominent peripapillary and central macular atrophy with visualization of the choroidal vessels (C)

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