Sveinsson's chorioretinal atrophy
Sveinsson's chorioretinal atrophy
An extremely rare autosomal dominant (OMIM:108985) that primarily affects Icelandics, with most cases tracing back to a male founder born in 1540, characterised by symmetrical lesions radiating from the optic disk involving the retina and the choroid.Molecular pathology
Defects of TEAD1, which encodes a ubiquitous transcription enhancer of the TEA/ATTS domain family, cause Sveinsson's chorioretinal atrophy.