Lids: blepharophimosis 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 · Lids: blepharophimosis syndrome

Sample item

A child has ptosis, telecanthus, epicanthus inversus and small palpebral fissures. This is the typical presentation of which condition?

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

The answer and the reasoning

C. Blepharophimosis syndrome

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is autosomal dominant due to FOXL2 mutations. Type I is associated with female infertility from premature ovarian failure. Surgical correction is done in stages.

Option by option

  • A. Congenital myasthenia

    Congenital myasthenia has fatigable ptosis without the dysmorphic features.

  • B. Marcus Gunn jaw-winking syndrome

    Marcus Gunn shows ptosis that elevates on jaw movement.

  • C. Blepharophimosis syndrome (correct)

    Correct. The four features define BPES.

  • D. Horner syndrome

    Horner syndrome has ptosis with miosis and anhidrosis.

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 C, Blepharophimosis syndrome. Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is autosomal dominant due to FOXL2 mutations.

Why is "Congenital myasthenia" not the answer?

Congenital myasthenia has fatigable ptosis without the dysmorphic features.

Why is "Marcus Gunn jaw-winking syndrome" not the answer?

Marcus Gunn shows ptosis that elevates on jaw movement.

Why is "Horner syndrome" not the answer?

Horner syndrome has ptosis with miosis and anhidrosis.

What concept does this question test?

It tests Lids: blepharophimosis syndrome in Ophthalmology. Type I is associated with female infertility from premature ovarian failure. Surgical correction is done in stages.

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 Lids: blepharophimosis 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.