Pre PACES Podcast #41 Retinitis pigmentosa
Aug 14, 2022
A concise tour of retinitis pigmentosa: classic signs, presentation and exam findings. A run through syndromic causes like Usher, Bardet-Biedl and Kearns-Sayre. Discussion of treatable metabolic causes such as Refsum disease and vitamin deficiencies. Practical pointers on investigations, referrals and multidisciplinary management.
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Core Features And Course Of Retinitis Pigmentosa
- Retinitis pigmentosa is a genetic, progressive retinal degeneration causing night blindness and peripheral 'bone spicule' pigmentation with eventual tunnel vision and central sparing initially.
- Onset is usually in childhood or early adulthood with many inheritance patterns and progression to severe visual loss by around age 60.
How To Take A Focused RP History
- Take a focused history emphasising onset, nature of vision loss, peripheral versus central field loss, and family history because many RP forms are hereditary.
- Ask about driving, occupation and functional impact and screen for diabetes or hypertension as alternate causes.
Spotting Usher Syndrome Clues
- Look for syndromic clues during examination such as hearing aids for Usher syndrome because about 15% of RP cases are Usher related.
- Note that Usher is autosomal recessive and presents with congenital or early sensorineural hearing loss plus RP.