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Ophthalmology General 8ece45e3

Retinitis pigmentosa is associated with all except

A
Usher syndrome
B
Kornzweig syndrome
C
Kearns-Sayre syndrome
D
Marfan syndrome
High-Yield Explanation
Marfan syndrome Marfan syndrome is characterised by Skeletal changes - Long extremities, arachnodactly (spider fingers) Ectopia lentis - Dislocation of lenses upwards & temporally Aoic aneurysm Systemic conditions associated with retinitis pigmentosa (RP)- a.Laurence-Moon-Biedl syndrome - most commonly associated & characterised by RP, obesity, hypogonadism, polydactyly & mental defect. b. Usher's syndrome: RP & labyrinthine deafness c.Bussen-Kornzweig disease (Abetalipoproteinemia) : RP, fat malabsorption, spinocerebellar degeneration, and acanthocytosis d.Kearns-Sayer syndrome: Mitochondria] myopathy characterised by external ophthalmoplegia, lid ptosis, cardiac conduction block & mild RP. e.Cockayne's syndrome: RP, progressive infantile deafness, dwarfism, mental retardation, nystagmus & ataxia. f.Refsum's syndrome: RP, peripheral neuropathy cerebellar ataxia. g.Hallgren's syndrome: RP, vestibulo-cerebellar ataxia, congenital deafness & mental deficiency

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