Retina: retinal haemangioblastoma: practice question

A Ophthalmology question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Ophthalmology · Retina: retinal haemangioblastoma

Sample item

A young adult has a red round retinal tumour with dilated feeder vessels and a family history of cerebellar haemangioblastoma and renal cell carcinoma. Which gene is mutated?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

D. VHL gene on chromosome 3

Von Hippel-Lindau disease follows autosomal dominant inheritance due to VHL tumour suppressor mutation on 3p25. Retinal angiomas are treated by laser or cryotherapy.

Option by option

  • A. TSC1 gene on chromosome 9

    TSC1 causes tuberous sclerosis.

  • B. NF1 gene on chromosome 17

    NF1 causes neurofibromatosis.

  • C. RB1 gene on chromosome 13

    RB1 causes retinoblastoma.

  • D. VHL gene on chromosome 3 (correct)

    Correct. VHL on chromosome 3 causes this triad.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Ophthalmology question

What is the answer to this Ophthalmology question?

The best answer is D, VHL gene on chromosome 3. Von Hippel-Lindau disease follows autosomal dominant inheritance due to VHL tumour suppressor mutation on 3p25.

Why is "TSC1 gene on chromosome 9" not the answer?

TSC1 causes tuberous sclerosis.

Why is "NF1 gene on chromosome 17" not the answer?

NF1 causes neurofibromatosis.

Why is "RB1 gene on chromosome 13" not the answer?

RB1 causes retinoblastoma.

What concept does this question test?

It tests Retina: retinal haemangioblastoma in Ophthalmology. Retinal angiomas are treated by laser or cryotherapy.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Retina: retinal haemangioblastoma?

Group the red eye by what to examine and what the pupil does. Then use the flashcards and the other Ophthalmology questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.