title: Mild retinal changes in a 47-year-old patient with phytanic acid storage disease.
abstract: A 47-year-old man complained of poor near vision. He had chronic polyneuropathy, bilateral shortening of the proximal phalanges, and ichthyosis. His serum phytanic acid level was merkedly elevated. The fundus and fluorescein angiograms showed diffuse fine granular changes throughout the retina. However, no pigmentary retinal degeneration, vessel attenuation, or disk atrophy was found. The visual field and dark adaptation results were normal. The electroretinogram demonstrated mildly subnormal rod responses with normal implicit times and cone responses within the normal range. The S-cone electroretinogram showed decreased amplitude and normal implicit time. These ophthalmological findings were not consistent with classical retinitis pigmentosa. We believe that this patient may have an uncommon type of adult Refsum's disease.
authors.affiliation: Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Onozu
authors.forename: N
authors.initials: N
authors.lastname: Yamada
authors.forename: S
authors.initials: S
authors.lastname: Hayasaka
authors.forename: A
authors.initials: A
authors.lastname: Watanabe
mesh_terms: D001284:Atrophy; D004596:Electroretinography; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D010831:Phytanic Acid / Q000097:blood*; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012035:Refsum Disease / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology; D017949:Retinal Cone Photoreceptor Cells / Q000502:physiology; D012164:Retinal Diseases / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology; D017948:Retinal Rod Photoreceptor Cells / Q000502:physiology
chemical_list: D010831:Phytanic Acid