Retina: Usher 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 · Retina: Usher syndrome

Sample item

A child with retinitis pigmentosa also has congenital sensorineural deafness. What is the diagnosis?

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

The answer and the reasoning

D. Usher syndrome

Usher syndrome is the commonest cause of combined deafness and blindness and follows autosomal recessive inheritance. Bardet-Biedl has polydactyly, obesity and renal anomalies with pigmentary retinopathy.

Option by option

  • A. Bardet-Biedl syndrome

    Bardet-Biedl has obesity and polydactyly.

  • B. Alport syndrome

    Alport has lenticonus and nephritis.

  • C. Refsum disease only

    Refsum has ichthyosis and ataxia from phytanic acid accumulation.

  • D. Usher syndrome (correct)

    Correct. RP with deafness is Usher 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.

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Questions about this Ophthalmology question

What is the answer to this Ophthalmology question?

The best answer is D, Usher syndrome. Usher syndrome is the commonest cause of combined deafness and blindness and follows autosomal recessive inheritance.

Why is "Bardet-Biedl syndrome" not the answer?

Bardet-Biedl has obesity and polydactyly.

Why is "Alport syndrome" not the answer?

Alport has lenticonus and nephritis.

Why is "Refsum disease only" not the answer?

Refsum has ichthyosis and ataxia from phytanic acid accumulation.

What concept does this question test?

It tests Retina: Usher syndrome in Ophthalmology. Bardet-Biedl has polydactyly, obesity and renal anomalies with pigmentary retinopathy.

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: Usher 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.