Eye findings in neurological disease [ICNApedia]

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====== Eye findings in neurological disease ======

|**Eye findings in neurological disease**   ||
|Corneal opacity  |Wilson (KF ring) Mucopolysaccharidoses I, III, IV, VI; mucolipidoses III, IV; Zellweger (inconstant); Fabry; sialidosis with chondrodystrophy; Cockayne; xeroderma pigmentosum  |
|Lens opacity  |Wilson, galactosaemia, [[:marinesco_sjoegren_lowe|Marinesco Sjögren Lowe]], sialidosis (rarely significant clinically); mannosidosis; [[:cerebrocutaneous_xanthomatosis|cerebrocutaneous xanthomatosis]]  |
|Glaucoma  |Mucopolysaccharidosis I, Zellweger (infrequent)  |
|Cherry red spot  |TaySachs; sialidosis (usually); infantile NiemannPick (50 % ); infantile GM1 gangliosidosis (50 % ); Farber (variable); multiple sulphatase deficiency (metachromatic leukodystrophy variant)  |
|Macular and retinal pigmentary degeneration  |Most NCLs; mucopolysaccharidoses I-H and I-S, II, III; mucolipidoses I; abetalipoproteinaemia; Refsum; some spinocerebellar syndromes [[:kearns-sayre_syndrome|Kearns-Sayre syndrome]]; PKAN/Hallervorden-Spatz (some); Cockayne; Sjögren-Larsson (some); Usher  |
|Optic atrophy  |Krabbe; metachromatic leukodystrophy; most sphingolipidoses (late); adrenoleukodystrophy; Alexander Spongy degeneration, PelizaeusMerzbacher; neuraxonal dystrophy; Alpers; Leber; some spinocerebellar degenerations  |
|Nystagmus  |Sensory nystagmus; Pelizaeus-Merzbacher; metachromatic leukodystrophy; Friedreich and spinocerebellar degenerations; neuraxonal dystrophy, ataxia telangectasia; Leigh syndrome (inconstant); [[:marinesco-sjoegren_syndrome|Marinesco-Sjögren syndrome]] Chédiak-Higashi; opsoclonus-myoclonus (jerky eye movements may be mistaken for nystagmus), GLUT1 (jerky eye movements may be mistaken for nystagmus)  |
|Ophthalmoplegia  |KearnsSayre and Leigh; Niemann-Pick with vertical ophthalmoplegia; abetalipoproteinaemia; Ataxia telangectasia; Infantile Gaucher; Tangier  |

Abbreviations: KF, Kayser-Fleischer ring; NCL, neuronal ceroid lipofuscinosis. Adapted with permission from Traeger EC, Rapin I (2000). Differential Diagnosis. In: L. P. Rowland (Ed.) Merritt's Neurology , 10th edn. Lippincott Williams & Wilkins, Philadelphia with permission.\\
Copyright (2000) Wolters Kluwer Health.

{{tag>eye_findings neurolists}}

Source: Forsyth R, Newton R, eds. //Paediatric Neurology (Oxford Specialist Handbooks in Paediatrics)//. 3 ed. ed. Oxford, UK: Oxford University Press; 2017. https://oxfordmedicine.com/view/10.1093/med/9780198784449.001.0001/med-9780198784449.

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