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Answers: 2006 Series -  May 9, 2006 Lecture 34 of 52  NEXT»

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A  25-year-old male presents with decreased vision in the left eye and is noted to have the above skin and retinal findings. You suspect that the patient has a retinal astrocytic hamartoma and this disease represents one of the phakomatoses.

Which one of the following is true regarding this disease?   

   a -- autosomal dominant inheritance


Tuberous sclerosis is an autosomal dominant disease and patients may have retinal or optic nerve hamartomas, seizures, mental retardation secondary to CNS astrocytic hamartomas, retinal peripheral depigmentation, adenoma sebaceum, ash leaf spots or café au lait spots of the skin, periungal fibromas, renal/pulmonary/bone cysts, and possible cardiac rhabdomyosarcomas.  These skin findings can be located in areas of the body other than the face and the retinal tumors are not malignant (thus, patients do not require immediate enucleation).

 


Lecture 34 of 52 «Previous Lecture   1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52    Next»
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