MILD RETINAL CHANGES IN A 47-YEAR-OLD PATIENT WITH PHYTANIC ACID STORAGE DISEASE

A 47-year-old man complained of poor near vision. He had chronic polyn europathy, bilateral shortening of the proximal phalanges, and ichthyo sis. His serum phytanic acid level was merkedly elevated. The fundus a nd fluorescein angiograms showed diffuse fine granular changes through out the retina. However, no pigmentary retinal degeneration, vessel at tenuation, or disk atrophy was found. The visual field and dark adapta tion results were normal. The electroretinogram demonstrated mildly su bnormal rod responses with normal implicit times and cone responses wi thin the normal range. The S-cone electroretinogram showed decreased a mplitude and normal implicit time. These ophthahmological findings wer e not consistent with classical retinitis pigmentosa. We believe that this patient may have an uncommon type of adult Refsum's disease.