cone-rod dystrophy X-linked type 3
cone-rod dystrophy X-linked type 3An X-linked pigmentary retinopathy (OMIM:300476) characterised by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration, leading to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.
Defects in CACNA1F on Xp11.23, which encodes the alpha-1F subunit of a voltage-dependent calcium channel, cause cone-rod dystrophy X-linked type 3.
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