Glaucoma: Axenfeld-Rieger 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.

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Ophthalmology · Glaucoma: Axenfeld-Rieger syndrome

Sample item

A child has an anteriorly displaced Schwalbe line with iris strands attached to it, iris stromal hypoplasia, hypodontia and raised intraocular pressure. Which gene is most likely mutated?

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

The answer and the reasoning

B. PITX2

Axenfeld-Rieger syndrome is a neural crest anomaly in which anterior segment dysgenesis is accompanied by dental and facial anomalies. PITX2 mutations are most closely linked to the dental and umbilical features, and glaucoma develops in about half of patients. FOXC1 is the other gene involved.

Option by option

  • A. PAX6

    PAX6 mutation causes aniridia, in which the iris is largely absent.

  • B. PITX2 (correct)

    Correct. PITX2 mutation causes the combination of anterior segment dysgenesis with hypodontia.

  • C. CYP1B1

    CYP1B1 mutation is a common cause of autosomal recessive primary congenital glaucoma without dental features.

  • D. MYOC

    MYOC mutation is linked to juvenile and adult open-angle glaucoma, not to dysgenesis of the anterior segment.

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, PITX2. Axenfeld-Rieger syndrome is a neural crest anomaly in which anterior segment dysgenesis is accompanied by dental and facial anomalies.

Why is "PAX6" not the answer?

PAX6 mutation causes aniridia, in which the iris is largely absent.

Why is "CYP1B1" not the answer?

CYP1B1 mutation is a common cause of autosomal recessive primary congenital glaucoma without dental features.

Why is "MYOC" not the answer?

MYOC mutation is linked to juvenile and adult open-angle glaucoma, not to dysgenesis of the anterior segment.

What concept does this question test?

It tests Glaucoma: Axenfeld-Rieger syndrome in Ophthalmology. PITX2 mutations are most closely linked to the dental and umbilical features, and glaucoma develops in about half of patients. FOXC1 is the other gene involved.

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 Glaucoma: Axenfeld-Rieger 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.