Retina: Leber congenital amaurosis: 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: Leber congenital amaurosis

Sample item

An infant has roving eye movements, a poor pupillary response, an oculodigital sign and a flat ERG. What is the diagnosis?

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

The answer and the reasoning

B. Leber congenital amaurosis

Leber congenital amaurosis is the earliest and most severe inherited retinal dystrophy, with a nonrecordable ERG. Gene therapy is available for RPE65-associated disease.

Option by option

  • A. Albinism

    Albinism shows iris transillumination and foveal hypoplasia.

  • B. Leber congenital amaurosis (correct)

    Correct. Early nystagmus, poor vision and a flat ERG fit LCA.

  • C. Achromatopsia

    Achromatopsia causes photophobia and absent colour vision.

  • D. Congenital stationary night blindness

    CSNB has normal fundus and a negative ERG with stable night blindness.

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, Leber congenital amaurosis. Leber congenital amaurosis is the earliest and most severe inherited retinal dystrophy, with a nonrecordable ERG.

Why is "Albinism" not the answer?

Albinism shows iris transillumination and foveal hypoplasia.

Why is "Achromatopsia" not the answer?

Achromatopsia causes photophobia and absent colour vision.

Why is "Congenital stationary night blindness" not the answer?

CSNB has normal fundus and a negative ERG with stable night blindness.

What concept does this question test?

It tests Retina: Leber congenital amaurosis in Ophthalmology. Gene therapy is available for RPE65-associated disease.

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: Leber congenital amaurosis?

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.