Research Article

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

Figure 2

Clinical features of Stargardt patients with ABCA4 mutations. (a) (SG-01_II:1): A and D show the fundus photos of the right and left eye. Note the atrophic macular lesions at the macula (black arrows). B and E show the corresponding fundus autofluorescence. Note the central area of hypoautofluorescence with a surrounding ring of hyperautofluorescence (white arrows). C and F show the foveal thinning (blue arrows) and the loss of photoreceptors and the external limiting membrane (red arrows). (b) (SG-02_II:1): A and D show the fundus photos of the right and left eye. Note the atrophic lesions at the macula (black arrows) and the flecks (yellow arrows). B and E show the corresponding fundus autofluorescence. Note the central area of hypoautofluorescence with a surrounding ring of hyperautofluorescence (white arrows). The yellow arrow corresponds to the flecks on FAF. C and F show the foveal thinning (blue arrows) and the loss of photoreceptors and the external limiting membrane (red arrows). (c) (SG-03_II:1): A and D show the fundus photo of the right and left eye. Note the central atrophic macula (black arrows) and the extensive flecks seen throughout the posterior pole. (B and E) FAF shows the corresponding area of central hypoautofluorescence (white arrows) surrounded by an area of hyperautofluorescence. Note the hyper- and hypoautofluorescence of flecks on FAF. (C and E) SD-OCT shows the central foveal thinning (blue arrows) and the loss of photoreceptors centrally (red arrows). (d) (SG-04_II:1): A and C show the fundus photos of the right and left eye. Note the atrophic lesions at the macula (black arrows). B and D show the foveal thinning (blue arrows) and the loss of photoreceptors and the external limiting membrane (red arrows). (e) (SG-04_V:1): A and D show the fundus photos of the right and left eye. Note the central atrophic macula (black arrows) and the extensive flecks seen throughout the posterior pole. (B and E) FAF shows the corresponding area of central hypoautofluorescence (white arrows). Note the hyperautofluorescence flecks (yellow arrows) that are not clear on the fundus pictures. (C and E) SD-OCT shows the central foveal thinning (blue arrows) and the extensive loss of photoreceptors (red arrows).
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