Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder

British Journal of Ophthalmology

Volumn 88, Issue 2, 2004, Pages 191-192

  Lyons, C J ^a   Castano, G ^a   McCormick, A Q ^a   Applegarth, D ^a  

^a BC CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOLEUKODYSTROPHY; ARTICLE; AUTOPSY; BLINDNESS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISORDERS OF PEROXISOMAL FUNCTIONS; ELECTROENCEPHALOGRAM; ELECTRORETINOGRAM; EVOKED VISUAL RESPONSE; EYE FUNDUS; HEPATOMEGALY; HUMAN; INFANT; MALE; NYSTAGMUS; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PUPIL REFLEX; RETINA; RETINOPATHY;

DEVELOPMENTAL DISABILITIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE HYPOTONIA; PEROXISOMAL DISORDERS; PIGMENTATION DISORDERS; RETINAL DISEASES; SEIZURES;

EID: 0942301214     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2003.023010     Document Type: Article

References (15)

1. Ulrich J, Herschkowitz N, Heitz P, et al. Adrenoleukodystrophy: preliminary report of a conatal case: light- and electron microscopical, immunohistochemical and biochemical findings. Acta Neuropathol (Berl) 1978;43:77-83.
2. Dimmick JE, Applegarth DA. Pathology of peroxisomal disorders. In: Landing BH, Haust MD, Bernstein J, Rosenberg HS, eds. Genetic metabolic diseases. Perspect Pediatr Pathol Basel Karger 1993;17:45-98.
3. Folz SJ, Trobe JD. The peroxisome and the eye. Surv Ophthalmol 1991;35:353-68.
4. Wanders RJA, Schuutgens RBH, Tabak HJ. Functions and biogenesis of peroxisomes. In: Applegarth DA, Dimmick JE, Hall JG, eds. Organelle diseases. London: Chapman and Hall Medical 1997:147-67.
5. Wray S, Cogan DG, Kuwabara T, et al. Adrenoleukodystrophy with disease of the eye and optic nerve. Am J Ophthalmol 83:480-5.
6. Glasgow BJ, Brown HH, Hannah JB, et al. Ocular pathologic findings in neonatal adrenoleukodystrophy. Ophthalmology 1978;94:1054-60.
7. Clayman HM, Flynn JT, Koch K, et al. Retinal pigment epithelial abnormalities in leukemic disease. Am J Ophthalmol 1972;74:416-19.
8. Schepens CL, Brockhurst RJ. Uveal effusion 1: Clinical picture. Arch Ophthalmol 1963;70:189-201.
9. Cohen S, Quentel G, Egasse D, et al. The dark choroid in systemic argyrosis. Retina 1993;13:312-16.
10. Barth RA, Pagon RA, Bunt-Milam AH. Leopard spot retinopathy in Warburg syndrome. Ophthalmic Pediatr Genet 1986;7:91-6.
11. Cohen SM, Green WR, De La Cruz ZC, et al. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. Am J Ophthalmol 1983;95:82-96.
12. Verma NP, Hart ZH, Nigro M. Electrophysiologic studies in neonatal adrenoleukodystrophy. Electroencephalogr Clin Neurophysiol 1985;60:7-15.
13. Moser H, Moser AE, Singh I, O'Neill BP. Annals Neural 1984;16:628-41.
14. Brown FR, Mc Adams AJ, Cummins JW, et al. Cerebra-hepato-renal (Zellweger) syndrome and neonatal adrenaleukadystraphy: similarities in phenatype and accumulation af very long chain fatty acids. Johns Hopkins Med J 1982;151:344-61.
15. Cohen SM, Brown FR, Martyn L, et al. Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome and its relationship to neonatal adrenoleukodystrophy. Am J Ophthalmol 1983;96:488-501.