Waardenburg syndrome 2 with ocular albinism

Waardenburg syndrome 2 with ocular albinism

An autosomal dominant disorder (OMIM:103470) characterised by ocular albinism with sensorineural deafness.
Molecular pathology
Caused by defects of MITF, which encodes microphthalmia-associated transcription factor, a protein that regulates differentiation and development of melanocytes and retinal pigment epithelium, and is responsible for pigment cell-specific transcription of melanogenesis enzyme genes.