Senior-Loken syndrome (juvenile nephronophthisis with Leber amaurosis)

Pathology

renal-retinal disease

Genetics

• autosomal recessive
• associated with defects in NPHP1, NPHP4
• associated with defects in IQCB1 gene (type 5)
• associated with defects in CEP290 (type 6)
• associated with defects in SDCCAG8 (type 7)

Clinical manifestations

• progressive wasting of renal glomeruli
• with or without medullary cystic renal disease
• progressive eye disease
• generally manifests during 1st year of life

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/266900
• OMIM: https://mirror.omim.org/entry/606996
• OMIM: https://mirror.omim.org/entry/610189
• OMIM: https://mirror.omim.org/entry/613615