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Ophthalmology General 7cd57bce

A female presenting with progressive visual defect is diagnosed to have retinitis pigmentosa. All of the following conditions are associated with retinitis pigmentosa, EXCEPT:

A
Refsum's disease
B
Hallervorden-Spatz disease
C
NARP
D
Abetalipoproteinemia
High-Yield Explanation
Some forms of retinitis pigmentosa occur in association with rare, hereditary systemic diseases like olivopontocerebellar degeneration, Bassen-Kornzweig disease (abetalipoproteinemia), Kearns-Sayre syndrome, Refsum's disease, and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome. Chronic treatment with chloroquine, hydroxychloroquine, and phenothiazines (especially thioridazine) can produce visual loss from a toxic retinopathy that resembles retinitis pigmentosa. Hallervorden-Spatz disease or neurodegeneration with brain iron accumulation 1 (NBIA1) or pantothenate kinase-associated neurodegeneration (PKAN), is characterized by extrapyramidal and cognitive abnormalities, dysahria, dysphagia, and ocular abnormalities (eg, gaze palsies, optic atrophy). Ref: Hoon J.C. (2012). Chapter 28. Disorders of the Eye. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e.

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