Monday, July 2, 2012

New topic on Genetics Home Reference: Senior-Løken syndrome

Senior syndrome – ken is a rare condition characterized by the combination of two specific functions: a kidney condition called nephronophthisis and ocular disease known as congenital Leber amaurosis.

Nephronophthisis causes fluid-filled cysts develop in the kidneys begin during childhood. These cysts affect kidney function, initially causing increased urine production (polyuria) and excessive thirst (polydipsia), general weakness and extreme tiredness (fatigue). Nephronophthisis leading to end-terminal chronic renal failure (ESRD) later in childhood or adolescence. ESRD is a life-threatening renal function insufficiency occurs when the kidneys are no longer able to filter efficiently liquids and waste products from the body.

Amaurosis congenita of Leber mainly affects the retina, that is the specialized tissue in the back of the eye that senses light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary eye movements (nystagmus) and extreme farsightedness (hyperopia). Some people with the syndrome of Senior-L ken develop signs of congenital Leber amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.

These resources address the diagnosis or management of Senior-L ken and may include providers of treatment.

You may also find information about the diagnosis or management of Senior-L ken in patient support and educational resources.

To locate a healthcare provider, see how do I find a genetics professional in my area? in the manual.

The following resources on Senior syndrome-L ken may be useful. These materials are written for the general public.

You may also be interested in these resources, which are designed for health professionals and researchers.

This manual provides basic information on genetics in clear language.

These links provide additional resources that may be useful to genetics.

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a genetic disease, syndrome or condition should consult with a qualified healthcare provider. See how do I find a genetics professional in my area? in the manual.


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