Eyelids: distichiasis with lymphoedema: 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 · Eyelids: distichiasis with lymphoedema

Sample item

A young woman has a double row of eyelashes and swelling of both legs since puberty. Mutation of which gene is responsible?

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

The answer and the reasoning

B. FOXC2

Lymphoedema-distichiasis syndrome results from mutations in FOXC2, giving distichiasis and lower limb lymphoedema at puberty. PAX6 causes aniridia, FBN1 causes Marfan syndrome and RB1 causes retinoblastoma.

Option by option

  • A. RB1

    RB1 mutation causes retinoblastoma.

  • B. FOXC2 (correct)

    Correct. FOXC2 mutation gives lymphoedema with distichiasis.

  • C. PAX6

    PAX6 mutation causes aniridia.

  • D. FBN1

    FBN1 mutation causes Marfan syndrome with ectopia lentis.

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 B, FOXC2. Lymphoedema-distichiasis syndrome results from mutations in FOXC2, giving distichiasis and lower limb lymphoedema at puberty.

Why is "RB1" not the answer?

RB1 mutation causes retinoblastoma.

Why is "PAX6" not the answer?

PAX6 mutation causes aniridia.

Why is "FBN1" not the answer?

FBN1 mutation causes Marfan syndrome with ectopia lentis.

What concept does this question test?

It tests Eyelids: distichiasis with lymphoedema in Ophthalmology. PAX6 causes aniridia, FBN1 causes Marfan syndrome and RB1 causes retinoblastoma.

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 Eyelids: distichiasis with lymphoedema?

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.