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 Sjögren Lowe, sialidosis (rarely significant clinically); mannosidosis; cerebrocutaneous xanthomatosis
Glaucoma Mucopolysaccharidosis I, Zellweger (infrequent)
Cherry red spot Tay–Sachs; sialidosis (usually); infantile Niemann–Pick (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; PKAN/Hallervorden-Spatz (some); Cockayne; Sjögren-Larsson (some); Usher
Optic atrophy Krabbe; metachromatic leukodystrophy; most sphingolipidoses (late); adrenoleukodystrophy; Alexander Spongy degeneration, Pelizaeus–Merzbacher; 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-Sjögren syndrome Chédiak-Higashi; opsoclonus-myoclonus (jerky eye movements may be mistaken for nystagmus), GLUT1 (jerky eye movements may be mistaken for nystagmus)
Ophthalmoplegia Kearns–Sayre 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.

Source: Forsyth R, Newton R, eds. Paediatric Neurology (Oxford Specialist Handbooks in Paediatrics). 3 ed. ed. Oxford, UK: Oxford University Press; 2017.

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