Retinitis pigmentosa, also known as hereditary retinal dystrophy, is the most common inherited disease of the retina, first affecting the rod photoreceptors, which regulate low-light vision, followed by the cone photoreceptors. Although the presentation of retinitis pigmentosa is highly variable, the typical presentation involves difficulty adapting to low-light situations; night blindness is generally the first symptom reported by patients. As the disease progresses, peripheral loss of vision results in tunnel vision. Examination of the eye is usually normal; keratoconus is a rare finding.
Full-field electroretinography (ERG) is considered the gold-standard test for the diagnosis of retinitis pigmentosa. ERG can detect rod and cone dysfunction across the retina when changes on clinical exam are minimal, which aids in establishing baseline function and monitoring disease progression. The ERG may be extinguished in the presence of a full Goldmann visual field.
The classic triad on funduscopic examination includes peripheral bone-spicule pigmentation, vascular narrowing, and optic disc pallor.
Learn more about retinitis pigmentosa.
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Cite this: Donny W. Suh, Raj K. Maturi. Fast Five Quiz: Diagnosis of Inherited Retinal Diseases - Medscape - Mar 31, 2023.