Bassen-Kornzweig Syndrome

In this condition, retinitis pigmentosa is accompanied by progressive neurological problems, abnormal red blood cells (acanthocytosis) and defective bowel absorption of fat, leading to very low blood levels of cholesterol and absent beta lipoprotein (Abetalipoproteinaemia).

Retinal degeneration can be one feature of a genetic condition that also affects other body systems. Certain genetic faults that cause damage to the eye can also impact other organs and tissues. Where more than one body system is involved, the condition is called a syndrome. However, the sight loss aspect can be very similar to that experienced by people living with non-syndromic retinitis pigmentosa.

Microsomal triglyceride transfer protein (MTP) has been identified as the cause of Bassen-Kornzweig syndrome. Abnormalities in this substance, MTP, cause the body to mismanage fat.

Further detailed information on Bassen-Kornzweig syndrome (Abetalipoproteinaemia) is available from:

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