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Retinoblastoma

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Most notable and striking example of inherited cancer syndrome.
It affects the retina.

Approximately 40% of Retinoblastomas are familial.

Commonly diagnosed in children aged 1 to 2 years.
Its caused by the mutation of the gene controlling cell division affecting children under the age of 6 years.

retinoblastoma

Carriers of this gene have a 10,000 fold increased risk of developing retinoblastoma, usually bilateral.

Early detection is very important or the disease can be fatal.
Preserving the eye and vision is possible if detected early.
If it spreads beyond the eye, the prognosis is poor.

Common features of Retinoblastoma are

1. A white glow in eye in photographed images in the eye called leucocoria
2. Crossed eyes
3. Red painful eye
4. Poor vision
5. No symptom
6. Orbital cellulitis( swelling around the eye)
7. Mydriasis(dilatation of pupil)
8. Heterochromia iridis(Differing iris color in the affected eye)
9. Hyphema(Blood in the eye)

Table of Contents

Sources

Image:
1) By J Morley-Smith (I created this work entirely by myself.) [Public domain], via Wikimedia Commons

References:
1. Robbins 7 ed, p 284. 285.

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