Richner-Hanhart syndrome

Tyrosinemia, Type II

Clinical Characteristics
Ocular Features: 

Keratitis is the outstanding ocular manifestation but not all patients have corneal involvement.  Symptoms include photophobia, pain, tearing, and redness which may occur as early as one year of age.  Corneal neovascularization, ulceration and scarring may lead to decreased visual acuity.  Linear and star-like corneal opacities in the epithelium resembling dendrites (pseudodendritic keratitis) have been described together with thickening of the conjunctiva.  The corneal lesions do not stain.  The conjunctival epithelium, fibrocytes, and blood vessel endothelial cells contain an accumulation of large inclusion bodies and tyrosine crystal-like structures. 

Systemic Features: 

Hydroxyphenylpyruvic acid is elevated in the urine and serum tyrosine levels are increased as the result of a defect in tyrosine aminotransferase.  Some patients have severe mental and somatic retardation.  The palms and soles can have painful punctate keratosis which may extend to the digits.  Developmental milestones such as walking are often delayed.  The keratotic lesions may be up to 2 cm in size. 

Genetics

Tyrosinemia type II is an autosomal recessive disorder caused by mutations in the tyrosine aminotransferase (TAT) gene at 16q22.1-q22.3. 

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

The hyperkeratosis and corneal opacities may improve with a diet low in phenylalanine and tyrosine but can recur after liberalization of the diet.  Benefits, if any, on CNS symptoms are unknown. 

References
Article Title: 

Mutation update, eleven novel mutations and description of five independent subjects with a novel founder mutation

Pena-Quintana L, Scherer G, Curbelo-Estevez ML, Jimenez-Acosta F, Hartmann B, Roche F, Meavilla-Olivas S, Perez-Cerda C, Garcia Segarra N, Giguere Y, Huppke P, Mitchell GA, Monch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Minana I, Reyes-Suarez D, Ramirez-Lorenzo T, Tugores A. TYROSINEMIA TYPE II: Mutation update, eleven novel mutations and description of five independent subjects with a novel founder mutation. Clin Genet. 2017 Mar 3. doi: 10.1111/cge.13003. [Epub ahead of print].

PubMed ID: 
28255985
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