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Resolution: standard / high Figure 1.
Fundus of a 45 year-old patient with cone rod dystrophy segregating with a loss-of-function
mutation (E1087X) in ABCA4. Note the presence of various-shaped pigment deposits in the posterior pole with
atrophy of the retina, while the retina appears less damaged in periphery (upper part
of the photograph).
Hamel Orphanet Journal of Rare Diseases 2007 2:7 doi:10.1186/1750-1172-2-7 |