SNP Shot: Genomic Insights

Senior-Løken syndrome is a rare genetic condition defined by the co-occurrence of nephronophthisis, a kidney disorder, and Leber congenital amaurosis, an eye disorder.

Nephronophthisis involves the formation of cysts in the kidneys starting in childhood. These cysts disrupt kidney function, leading to symptoms like increased urination (polyuria), excessive thirst (polydipsia), weakness, and fatigue. Ultimately, nephronophthisis progresses to end-stage renal disease (ESRD), a life-threatening condition where the kidneys can no longer effectively filter waste and fluids. ESRD usually occurs later in childhood or adolescence.

Leber congenital amaurosis primarily affects the retina, the light-sensitive tissue at the back of the eye. This causes vision impairments, including light sensitivity (photophobia), involuntary eye movements (nystagmus), and severe farsightedness (hyperopia). The onset of Leber congenital amaurosis symptoms in individuals with Senior-Løken syndrome can vary, with some developing them in early childhood and others later on.

Inheritance:

Senior-Løken syndrome follows an autosomal recessive inheritance pattern. This means that an individual must inherit two mutated copies of the responsible gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are typically unaffected and show no symptoms.