Top 3 favourite MRCP PACES question besides Diabetic retinopathy and Optic atrophy !
There is widespread scattering black pigments resembling bony corpuscles. The macula is spared. There is tunnel vision. My diagnosis is Retinitis Pigmentosa.
Check the polydactyly, look out for obesity, bilateral ptosis, ichtiosis and also a ICD. Also check for cerebellar signs and hearing.
Causes :
Laurence-Moon-Biedel-Bardet syndrome (polydactyly, obesity)
Refsum's Disease (cerebellar ataxia, deafness, peripheral neuropathy, cardiomyopathy, ichtiosis)
Kearn's Sayre syndrome (opthalmoplegia, bilateral ptosis, heart block)
Hereditary ataxia (eg Friedreich's ataxia)
Abetalipoproteinaemia
Familial neuropathies
You should score if you get this case in MRCP exam !
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