Retinoblastoma

Question 1

What are the symptoms of Retinoblastoma?

Answer 1

White color in the pupil when light shone in the eye–> Leukocoria
Eyes appear to be looking in different directions
Poor vision
Eye redness
Eye swelling

Question 2

What genes are involved in Retinoblastoma?

Answer 2

RB1 mutations

small % caused by deletion in chromosome 13

Question 3

What is the inheritance pattern for Retinoblastoma?

Answer 3

Autosomal dominant

Question 4

Is the homozygous dominant lethal for Retinoblastoma?? What is the phenotype of the heterozygous in Retinoblastoma?

Answer 4

Homozygous dominant is very rare
-no research concludes it to be lethal

Heterozygous will display symptoms of the diseases