Retinoblastoma
You are a Junior Resident in the Department of Ophthalmology
at NNMC. During office hours a 9-year-old boy is referred
for examination because of deteriorating vision that began
about a week ago. There has been no trauma or recent eye
infection. He has a younger brother who is 4 years old
and who has not reported any visual problems. A younger
sister, age 3, is also normal.
You perform an eye examination and identify irregular
white substance within both eyes. You make a presumptive
diagnosis of Retinoblastoma (Rb) (180200). In order
to counsel the parents and this young boy, you go to
OMIM
– On-Line Mendelian Inheritance in Man.
Go to OMIM:
- Search the OMIM database for: Retinoblastoma
- Look up clinical synopsis, text, genetic defect
and location of Retinoblastoma gene.
- Review information about the two-hit hypothesis,
tumor suppressor genes, the genetic abnormality leading
to this condition, the inheritance pattern and the
treatment required.
To ascertain information about genetic testing for
Retinoblastoma you choose an on-line resource (www.genetests.org).
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