Collecting clinical features and molecular variants in additional DCT/OCA8 patients is important to better characterize the disease.
The overall aims of our research are to identify additional patients with mutations in DCT and to characterize the clinical spectrum.
Clinical (dermatological, ocular) (a clinical questionnaire is available on request) and genetic information is therefore necessary as well as photographs to obtain a better insight into the clinical variability of OCA8.
Instructions for the clinician involved: please request written consent for the use and storage of medical information with or without photographs.
iPSCs derived pigmented cells to understand the involvement of DCT in pigmentation and retinal development and the link between loss-of-function and oculocutaneous albinism
DCT