Question
A child presents with Squint and Deterioration of Vision.On examination White Pupillary reflex is seen .On CT scan examination,a mass in the posterior chamber with calcification is seen in the eye.
On histopathological examination of the mass,following image is seen(Rosettes are seen).What would be the most probable diagnosis.
A. Retinoblastoma.
B. Retinopathy of prematurity.
C. Tuberculosis.
D. Coat’s Disease.
Show Answer
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Correct Answer » A
Explanation
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Ans:A. Retinoblatoma.
Retinoblastoma
- It is a cancer that rapidly develops from the immature cells of a retina.
It is the most common malignant cancer of the eye in children, and it is almost exclusively found in young children.
- Almost half of children with retinoblastoma have a hereditary genetic defect associated with retinoblastoma.
- In other cases, it is caused by a congenital mutation in the chromosome 13 gene, 13q14.
Clinical Features:
- Abnormal appearance of the retina as viewed through the pupil(leukocoria, also known as amaurotic cat’s eye reflex).
- Deterioration of vision, a red and irritated eye with glaucoma, squint.
- Clinical patterns of retinoblastoma growth.
- If the tumor grows forward into the vitreous it is known as an endophytic tumor. This form of retinoblastoma often shows vitreous seeding, which causes vitreous haze and opacities. This can eventually progress to involve the anterior chamber and can cause secondary glaucoma and inflammation.
- When the tumor shows a growth pattern that extends beneath the retina (subretinal) it is described as an exophytic tumor. These tumors can cause exudative retinal detachments and may be associated with significant subretinal seeding.
Diffuse infiltrating growth
- This is a rare subtype comprising 1.5% of all retinoblastomas. It is characterized by a relatively flat infiltration of the retina by tumor cells but without a discrete tumor mass.
Examination:
- Red Reflex:Whitening of red reflex
Ophthalmoscopic examination:
- Presents with one or multiple nodular, white or cream coloured masses often associated with increased vascularization.
Histological findings:
- Both undifferentiated and differentiated elements may be present. Undifferentiated elements appear as collections of small, round cells with hyperchromatic nuclei; differentiated elements include Homer Wright rosettes(a type of rosette in which differentiated tumor cells surround the neuropil), Flexner-Wintersteiner rosettes( is a spoke and wheel shaped cell formation ),and fleurettes from photoreceptor differentiation.
- CT scan examination : a mass in the posterior chamber with calcification is seen
