This means that the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who also has the disorder. KWE can begin as a spontaneous mutation, first appearing in an individual with no previous family history of the disorder. This may be due to a genetic predisposition for the disorder, possibly connected to the Oudtshoorn ancestral line. Pathophysiology
KWE is of unknown cause, as at the present time, no specific mutation of any gene has been established as the cause of the disorder. Research has shown, however, that the gene involved is located on human chromosome 8. The function of enzymes in general are fundamentally subject to temperature. A candidate gene is a gene that is suspected to cause a disease or disorder. In KWE, this gene is known to be located in the area between chromosome 8q22 and 8q23. Within this region, the occurrence of loss of heterozygosity (simultaneous loss of function in both alleles of a gene) has been associated with malignancy, including certain types of breast and lung cancer. During the investigation for a KWE candidate gene in this same region, twelve protein transcripts were evaluated between microsatellite markers D8S550 and D8S1759, which is a critical area shown to be the source of KWE pathogenesis. Among the twelve transcripts identified, one corresponded to the BLK gene, which encodes the enzyme B-lymphoid tyrosine kinase.
It is also mentioned in the science fiction novel Blindsight, by Peter Watts.It is mentioned frequently as "Antons Blindness" as one of the primary metaphors in Raj Patels The Value of Nothing. In Lars von Triers film Dogville, the character Jack McKay acts as if he can see but gives many signs he cannot.The syndrome is also the main theme of the Malaysian movie Desolasi (Desolation), where the patients live in their own world of imagination, while unable to see the real world. It is also mentioned in Oliver Sackss An Anthropologist on Mars. See also
Prosopagnosia – Cognitive disorder of face perception
Riddoch syndrome – Type of visual impairment
Visual release hallucinations


== References ==