Retina: pigmentary retinopathy with systemic disease: 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: pigmentary retinopathy with systemic disease

Sample item

A child with ataxia, anosmia, deafness, ichthyosis and night blindness has raised serum phytanic acid. Which disease is this?

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

The answer and the reasoning

D. Refsum disease

Refsum disease is a peroxisomal disorder with phytanic acid accumulation that causes retinitis pigmentosa, cerebellar ataxia, peripheral neuropathy, anosmia and ichthyosis. Treatment is dietary restriction of phytanic acid. Abetalipoproteinaemia causes pigmentary retinopathy with acanthocytes and fat malabsorption.

Option by option

  • A. Abetalipoproteinaemia

    Abetalipoproteinaemia has acanthocytes and low lipoproteins.

  • B. Usher syndrome

    Usher syndrome has deafness without raised phytanic acid.

  • C. Kearns-Sayre syndrome

    Kearns-Sayre has ophthalmoplegia, heart block and mitochondrial deletions.

  • D. Refsum disease (correct)

    Correct. Raised phytanic acid is the biochemical marker.

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, Refsum disease. Refsum disease is a peroxisomal disorder with phytanic acid accumulation that causes retinitis pigmentosa, cerebellar ataxia, peripheral neuropathy, anosmia and ichthyosis.

Why is "Abetalipoproteinaemia" not the answer?

Abetalipoproteinaemia has acanthocytes and low lipoproteins.

Why is "Usher syndrome" not the answer?

Usher syndrome has deafness without raised phytanic acid.

Why is "Kearns-Sayre syndrome" not the answer?

Kearns-Sayre has ophthalmoplegia, heart block and mitochondrial deletions.

What concept does this question test?

It tests Retina: pigmentary retinopathy with systemic disease in Ophthalmology. Treatment is dietary restriction of phytanic acid. Abetalipoproteinaemia causes pigmentary retinopathy with acanthocytes and fat malabsorption.

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: pigmentary retinopathy with systemic disease?

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.