ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.

Invest Ophthalmol Vis Sci · 2026 · PMC13089665 · PMID 41979252

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Our previous study 3 found patients with a CACD phenotype secondary to PRPH2 showed a trend towards greater cone than rod involvement as reported previously by Hoyng and Deutman. 11 In contrast work by Ikelle et al., 7 they found cones were more resilient to pathogenic PRPH2 variants as opposed to rods which were highly susceptible to PRPH2 haploinsufficiency.

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