Related Experiment Video
Updated: Jul 6, 2026

A Rhodopsin Transport Assay by High-Content Imaging Analysis
Published on: January 16, 2019
[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)]
Anette Bygum1, Flemming Brandrup, Else Fredsted Gade
1Dermato-venerologisk Afdeling I, Odense Universitetshospital, DK-5000 Odense C. anette.bygum@ouh.regionsyddanmark.dk.
Abstract:
Richner-Hanhart syndrome or oculocutaneous tyrosinemia is characterized by painful palmo-plantar keratoderma, keratitis with photophobia and progressive mental impairment. The syndrome is caused by deficient hepatic tyrosine aminotransferase and is inherited as an autosomal recessive trait. We report a 28 year-old woman with lifelong photophobia, eye pain and painful plantar hyperkeratotic lesions, necessitating use of a wheelchair. A few days after instituting tyrosine lowering therapy, her eye symptoms disappeared and she could walk without pain. Her brother was later diagnosed with the same disease.
Related Concept Videos
Inborn Errors of Metabolism
Photoreceptors and Visual Pathways
Pleiotropy
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Epistasis
Jaundice
