Uvea: CHARGE syndrome: 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.

Try it

Ophthalmology · Uvea: CHARGE syndrome

Sample item

A newborn has iris and choroidal coloboma, a heart defect, choanal atresia, growth retardation, genital hypoplasia and ear anomalies. Which gene is typically mutated?

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

The answer and the reasoning

D. CHD7

CHARGE syndrome stands for coloboma, heart defects, atresia of the choanae, retarded growth, genital anomalies and ear anomalies. Most cases are due to mutation of CHD7. PAX2 causes renal-coloboma syndrome.

Option by option

  • A. PAX6

    PAX6 mutation causes aniridia.

  • B. PAX2

    PAX2 mutation causes renal-coloboma syndrome with optic nerve coloboma.

  • C. SOX2

    SOX2 mutation causes anophthalmia and microphthalmia.

  • D. CHD7 (correct)

    Correct. CHD7 mutation causes CHARGE syndrome.

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.

More Ophthalmology questions

Questions about this Ophthalmology question

What is the answer to this Ophthalmology question?

The best answer is D, CHD7. CHARGE syndrome stands for coloboma, heart defects, atresia of the choanae, retarded growth, genital anomalies and ear anomalies.

Why is "PAX6" not the answer?

PAX6 mutation causes aniridia.

Why is "PAX2" not the answer?

PAX2 mutation causes renal-coloboma syndrome with optic nerve coloboma.

Why is "SOX2" not the answer?

SOX2 mutation causes anophthalmia and microphthalmia.

What concept does this question test?

It tests Uvea: CHARGE syndrome in Ophthalmology. Most cases are due to mutation of CHD7. PAX2 causes renal-coloboma syndrome.

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 Uvea: CHARGE syndrome?

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.