Senior-Løken syndrome

Senior-Løken syndrome is a congenital eye disorder, first characterized in 1961. It is a rare autosomal recessive disorder characterized by nephronophthisis and progressive eye disease.

Genetics
Genes involved include:
 * NPHP1
 * NPHP4
 * IQCB1

Pathophysiology
The cause of Senior-Loken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia

Relation to other rare genetic disorders
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely-varying, phenotypically-observed disorders. Such diseases are becoming known as ciliopathies. Known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.