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 | 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; 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-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.
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.
Discussion