senior–løken syndrome senior–løken syndrome senior–løken syndrome is a congenital eye disorder, first characterized in 1961. it is a rare, ciliopathic, autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease. senior–løken syndromeother namesrenal dysplasia-retinal aplasia syndromesenior–løken syndrome is an autosomal recessive inherited conditionspecialtymedical genetics genetics genes involved include: type omim genes slsn1 266900 nphp1 slsn3 606995 unknown slsn4 606996 nphp4 slsn5 609254 nphp5/iqcb1 slsn6 610189 nphp6/cep290 slsn7 613615 sdccag8 pathophysiology the cause of senior–løken 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, alström syndrome, meckel–gruber syndrome and some forms of retinal degeneration. diagnosis