Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

Figure 2

Color fundus photographs of both eyes of patients carrying the mutation p.L84F in GUCA1A. (a), (b) Patient I:1 (75 y). Fundus photographs showing an evident disc pallor and arteriolar attenuation, area of macular atrophy with pigment migration, choriocapillaris atrophy surrounded this area, and the optic disc bilaterally. (c), (d) Patient II:1 (53 y). Fundus photographs showing bilateral temporal disc pallor, mild arteriolar attenuation, and bull’s eye pattern of maculopathy. (e), (f) Patient II:3 (47 y). Funduscopy showing mild temporal disc pallor, normal vessels, and perifoveal retinal pigment epithelium (RPE) alterations bilaterally. (g), (h) and (i), (j) Patients III:1 (25 y) and III:4 (12 y), respectively, presenting normal fundi.

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