Senior–Løken syndrome

Also known as: Renal–retinal syndrome

Nephronophthisis with retinal degeneration.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

Etiology & mechanism

Ciliary protein defects.

Gene(s) involved (8)

CEP290IQCB1NPHP1NPHP3NPHP4SDCCAG8TRAF3IP1WDR19

Symptoms & signs (7)

anemiablindnessgrowth failurepolydipsiapolyuriaprogressive kidney failureretinitis pigmentosa

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.