Senior-Løken syndrome [15 genes]

Senior–Løken syndrome (SLS) is a clinically heterogeneous genetic ciliopathy that combines nephronophthisis (NPH)-type tubulointestitial nephropathy and severe eye degeneration (retinal dystrophy). Renal disease is characterized by the occurrence of cysts in the kidneys during infancy or childhood, leading to the progressive degeneration of the kidneys’ filtration units. Eye features include severe congenital or early-onset vision loss due to retinal dystrophy or a milder phenotype defined by slow-progressing tubular restriction of the visual field and night blindness. Other additional clinical signs are rarely observed, such as liver fibrosis, obesity, and neurological disorders.

• Senior-Løken disease shows an estimated incidence of 1:1,000,000 live births.

The Senior-Løken NGS Panel allows for etiological confirmation of the clinical diagnosis, differentiating this syndrome from other causes of nephropathy and retinal dystrophy and sparing unnecessary complementary examinations and inadequate treatments. Likewise, the identification of the causal variants allows accurately informing the families about risk of recurrence, studying carriers in families, and offering prenatal or pre-implantation genetic diagnosis services for future pregnancies.

This study is indicated upon high diagnostic suspicion after ophthalmological and nephrological assessment.