Lens and cataract: oculocerebrorenal 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 · Lens and cataract: oculocerebrorenal syndrome

Sample item

A boy has bilateral congenital cataracts, glaucoma, hypotonia, intellectual disability and renal tubular acidosis with aminoaciduria. What is the likely diagnosis?

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

The answer and the reasoning

D. Lowe syndrome

Lowe (oculocerebrorenal) syndrome is an X-linked recessive disorder with congenital cataract, glaucoma, hypotonia and Fanconi-type renal tubular dysfunction. Female carriers may show punctate lens opacities.

Option by option

  • A. Marfan syndrome

    Marfan syndrome causes ectopia lentis and aortic root disease.

  • B. Wilson disease

    Wilson disease causes liver and neurological disease with sunflower cataract later.

  • C. Alport syndrome

    Alport syndrome causes haematuria, deafness and lenticonus.

  • D. Lowe syndrome (correct)

    Correct. Cataract, glaucoma, hypotonia and tubular disease define Lowe 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, Lowe syndrome. Lowe (oculocerebrorenal) syndrome is an X-linked recessive disorder with congenital cataract, glaucoma, hypotonia and Fanconi-type renal tubular dysfunction.

Why is "Marfan syndrome" not the answer?

Marfan syndrome causes ectopia lentis and aortic root disease.

Why is "Wilson disease" not the answer?

Wilson disease causes liver and neurological disease with sunflower cataract later.

Why is "Alport syndrome" not the answer?

Alport syndrome causes haematuria, deafness and lenticonus.

What concept does this question test?

It tests Lens and cataract: oculocerebrorenal syndrome in Ophthalmology. Female carriers may show punctate lens opacities.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. 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 Lens and cataract: oculocerebrorenal 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.