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Report of a Case With Associated Tyrosinemia

Don C. Bienfang, MD; Toichiro Kuwabara, MD; Siegfried M. Pueschel, MD

Arch Ophthalmol. 1976;94(7):1133-1137.

Abstract
• The Richner-Hanhart syndrome with tyrosinemia was recognized in a mentally retarded adolescent boy. The clinical manifestations, including hyperkeratosis of the volar aspects of the hands and feet, thickening of the conjunctival epithelium, and corneal opacities, as well as biochemical aberrations of tyrosine metabolism, responded to specific treatment with a diet low in phenylalanine and tyrosine. Light and electron microscopical studies illustrate the underlying conjunctival pathologic changes.

Author Affiliations
From Howe Laboratory of Ophthalmology, Boston (Dr Bienfang), the Laboratory of Vision Research, National Eye Institute, Bethesda, Md (Dr Kuwabara), and the Developmental Evaluation Clinic, Children's Hospital Medical Center, Boston (Dr Pueschel).

Footnotes
Accepted for publication Oct 14, 1975.

Reprint requests to Howe Laboratory of Ophthalmology, 243 Charles St, Boston, MA 02114 (Dr Bienfang).

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