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Retinitis Pigmentosa — SCE Neurology MCQ

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HardNeuro-ophthalmologyRetinitis PigmentosaSCE Neurology

Progressive night blindness and peripheral-field constriction are accompanied by bone-spicule pigmentation, attenuated retinal arterioles and markedly reduced electroretinography responses. What is the diagnosis?

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Correct answer: B — Retinitis pigmentosa, after excluding the closest mimic, after specialist retinal review

The best answer is “Retinitis pigmentosa, after excluding the closest mimic, after specialist retinal review”. The rod-cone degeneration phenotype and characteristic fundus and ERG findings indicate retinitis pigmentosa. “Open-angle glaucoma” is a credible alternative elsewhere, but it fails the decisive discriminator in this case. “Bilateral optic neuritis” is a credible alternative elsewhere, but it fails the decisive discriminator in this case. “Papilloedema” is a credible alternative elsewhere, but it fails the decisive discriminator in this case. “Vigabatrin-associated field loss without retinal degeneration” is a credible alternative elsewhere, but it fails the decisive discriminator in this case.

Reference: Royal College of Ophthalmologists inherited retinal disease commissioning guidance: https://www.rcophth.ac.uk/resources-listing/commissioning-guidance/