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Ophthalmology Vitreous and retina 876bd7a2

Retinitis pigmentosa is a feature of all except -

A
Refsum's disease
B
Hallervorden-Spatz disease
C
NARP
D
Abetalipoproteinemia
High-Yield Explanation
Retinitis pigmentosa has features of : 1.Refsum's syndrome. It is characterised by retinitis pigmentosa, peripheral neuropathy and cerebellar ataxia. 2.Usher's syndrome. It includes retinitis pigmentosa and labyrinthine deafness. 3.Hallgren's syndrome. It comprises retinitis pigmentosa, vestibulocerebellar ataxia, congenital deafness and mental deficiency. 4. Other associated syndromes include Bussen- Koranzweig syndrome (Abetalipoproteinaemia), Kearns-Sayer syndrome, Friedreich's ataxia, Bardet-Biedle syndrome, NARP (neuropathy, ataxia, and retinitis pigmentosa), neuronal ceroid lipofuscinosis, olivopontocerebellar degeneration. Ref AK khurana 6/e p 289

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