Ophthalmic Manifestations of Infantile Phytanic Acid Storage Disease

Richard Weleber, Andrea C. Tongue, Nancy G. Kennaway, Sarojini S. Budden, Neil R M Buist

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

Two patients had infantile phytanic acid storage disease. Patient 1 had nystagmus from early infancy, epicanthal folds, esotropia, and a pigmentary retinopathy. The second case had similar manifestations; however, no nystagmus was present. Both patients were hypotonic as infants, had a severe hearing impairment, and were moderately severely developmentally delayed. Serum phytanic acid levels in both cases were clearly elevated. The fundus and fluorescein angiogram showed macular and diffuse retinal pigment epithelial defects, vascular attenuation, and pigmentary dispersion. The electroretinogram demonstrated severely subnormal rod- and conemediated responses, with greater involvement evident for responses generated by middle and inner retinal neurons compared with responses mediated by photoreceptors. The ophthalmologist may be the first to recognize the characteristic features of this disorder. Early diagnosis may be important because this disorder may be ameliorated by dietary restriction of phytanic acid.

Original languageEnglish (US)
Pages (from-to)1317-1321
Number of pages5
JournalArchives of Ophthalmology
Volume102
Issue number9
DOIs
StatePublished - 1984

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Infantile Refsum's Disease
Eye Manifestations
Phytanic Acid
Retinal Neurons
Esotropia
Retinitis Pigmentosa
Retinal Pigments
Fluorescein
Hearing Loss
Blood Vessels
Early Diagnosis
Angiography
Serum

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Ophthalmic Manifestations of Infantile Phytanic Acid Storage Disease. / Weleber, Richard; Tongue, Andrea C.; Kennaway, Nancy G.; Budden, Sarojini S.; Buist, Neil R M.

In: Archives of Ophthalmology, Vol. 102, No. 9, 1984, p. 1317-1321.

Research output: Contribution to journalArticle

Weleber, Richard ; Tongue, Andrea C. ; Kennaway, Nancy G. ; Budden, Sarojini S. ; Buist, Neil R M. / Ophthalmic Manifestations of Infantile Phytanic Acid Storage Disease. In: Archives of Ophthalmology. 1984 ; Vol. 102, No. 9. pp. 1317-1321.
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