Retina: choroideremia: 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: choroideremia

Sample item

A 15-year-old boy has night blindness and progressive loss of peripheral vision. Fundus examination shows widespread chorioretinal atrophy exposing white sclera with a spared macula. His maternal uncle is similarly affected and his mother has mild patchy pigment changes. What is the diagnosis?

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

The answer and the reasoning

B. Choroideremia

Choroideremia is an X-linked recessive degeneration of choroid, RPE and photoreceptors that causes night blindness in boys, with the macula preserved until late. Female carriers show mild mottled pigmentation.

Option by option

  • A. Stargardt disease

    Stargardt disease is a macular dystrophy with central vision loss and flecks.

  • B. Choroideremia (correct)

    Correct. X-linked inheritance with chorioretinal atrophy and a spared macula is characteristic.

  • C. Best disease

    Best disease is an autosomal dominant vitelliform macular lesion with a normal ERG and abnormal EOG.

  • D. Gyrate atrophy

    Gyrate atrophy is autosomal recessive with scalloped patches and raised plasma ornithine.

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, Choroideremia. Choroideremia is an X-linked recessive degeneration of choroid, RPE and photoreceptors that causes night blindness in boys, with the macula preserved until late.

Why is "Stargardt disease" not the answer?

Stargardt disease is a macular dystrophy with central vision loss and flecks.

Why is "Best disease" not the answer?

Best disease is an autosomal dominant vitelliform macular lesion with a normal ERG and abnormal EOG.

Why is "Gyrate atrophy" not the answer?

Gyrate atrophy is autosomal recessive with scalloped patches and raised plasma ornithine.

What concept does this question test?

It tests Retina: choroideremia in Ophthalmology. Female carriers show mild mottled pigmentation.

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: choroideremia?

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.