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Rola Ba-Abbad, Anthony Robson, Anthony Moore, Andrew Webster, Yew Chong Yap, Graham Holder; PRPH2 Mutations as a Cause of Electronegative ERG. Invest. Ophthalmol. Vis. Sci. 2013;54(15):5109.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the phenotypic and genotypic features in patients with Peripherin-2 (PRPH2) mutation and negative electroretinograms.
Retrospective observational case series. Records of patients with dominantly inherited maculopathy, confirmed molecular diagnosis of PRPH2 mutations, and an electronegative ERG under either photopic or scotopic conditions were identified from a larger cohort in a specialized electrophysiology unit at a tertiary eye care hospital. Data examined included clinical history and retinal images, electrophysiology and mutational analysis.
Five patients were identified. All had presented with clinically evident maculopathy and Snellen visual acuities in the range of 6/6-6/36. All had negative electroretinograms in scotopic or photopic ERGs or both. Three patients were heterozygous for a common missense mutation c.514C>T, p.R172W; 2 were heterozygous for frame-shifting mutations including one with a c.259_266del8, p.D87fs, and a novel c.394delC, p.Q132fs deletion.
Dominantly inherited maculopathy due to PRPH2 mutation can be associated with negative electroretinograms. This novel finding is not mutation-specific, and does not relate to the severity of the disease. The data add to the documented phenotypical variability of PRPH2 mutations and represent a further cause of negative ERG.
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