• Journal of Genetic Medicine
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• v.17 no.1
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• pp.39-42
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• 2020

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364^⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

• Childhood Kidney Diseases
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• v.11 no.1
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• pp.112-117
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• 2007

Although juvenile nephronophthisis(NPHP) is one of the most frequent genetic causes of chronic renal failure, it has very rarely been reported in Korean children. Most NPHP patients are found to have chronic renal failure, since there are no distinct clinical symptoms for NPHP except polydipsia, polyuria and enuresis in the early stage of disease. Ten percent of NPHP patients manifest retinitis pigmentosa, called $Senior-L\ddot{o}ken$ syndrome. We experienced 2 cases of $Senior-L\ddot{o}ken$ syndrome that occurred in siblings(a 10 year-old boy and a 14-year-old girl) who were diagnosed with Leber's amaurosis. They were found to have severe renal impairment without polydipsia and polyuria. However, no large homogenous deletion of the NPHPI(2q13) gene was not identified in these patients. We report here on these cases and we review the literature to emphasize the association between Leber's amaurosis and the development of chronic renal failure.