A 28-year-old woman with Scheie syndrome (MPS I-S) presented with the unusual feature of extremely dense peripheral corneal clouding, allowing maintenance of good central visual acuity. Characteristic systemic features, an abnormal electroretinogram result, and absent α-L-iduronidase activity confirmed the diagnosis despite the unusual corneal pattern of clouding.
|Original language||English (US)|
|Number of pages||3|
|State||Published - Jan 1 1994|
- Corneal clouding
- Retinal degeneration
- Scheie syndrome