Abetalipoproteinemia

Also known as Bassen-Kornzweig syndrome, abetalipoproteinemia results from a deficiency of beta lipoproteins, which are necessary for normal absorption of fat-soluble vitamins from the gut, leading to poor absorption of vitamins A, D, E, and K. The syndrome is characterized by low levels of fat-soluble vitamins, ataxia, acanthocytosis,

Figure 11 Gyrate atrophy. Note the scalloped peripheral areas of chorioretinal degeneration as well as central atrophy.


Figure 10 A fundus photograph of fundus albipunctata. Note the characteristic punctate white dots.

Figure 12 An example of choroideremia demonstrating large areas of chorioretinal atrophy with some macular sparing.

And RP. Treatment with combined vitamin A and vitamin E has been shown to prevent or slow retinal degeneration and, in rare patients, reverse the dark adaptation and ERG defects.

Protein product, frataxin. The resulting disease causes muscle weakness, ataxia, cardiac hypertrophy, deafness, and retinal degeneration.

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