Contributor: Jesse Vislisel, MD
Photographer: Brice Critser, CRA
Cone-rod dystrophy is a group of inherited disorders causing proportionately more degeneration of cones than rods. Inheritance may be autosomal dominant or recessive. Important dominant genes are GUCY2D and CRX, which can also cause Leber's congenital amaurosis when dysfunctional. A mutation in the ABCA4 gene is a common recessive cause, which can also result in Stargardt disease. The characteristic exam finding is a bull's-eye maculopathy as seen in these photographs. The loss of photoreceptors can be more easily appreciated on OCT as a discontinuity in the outer retinal structures. The Goldmann visual fields show the typical central scotomata associated with cone-rod dystrophy.
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Ophthalmic Atlas Images by EyeRounds.org, The University of Iowa are licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.