Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is characterised by all of the following EXCEPT:
- A Good levator function with a high lid crease ✓
- B Epicanthus inversus
- C Telecanthus
- D Short horizontal palpebral fissures
Correct answer: A. Good levator function with a high lid crease
Explanation
BPES comprises blepharophimosis, ptosis, epicanthus inversus, and telecanthus, inherited as autosomal dominant due to mutations in the FOXL2 gene. The ptosis is congenital, usually severe, and always accompanied by poor levator function requiring frontalis sling surgery. D good levator function with a high crease describes aponeurotic ptosis and is incompatible with this syndrome.
Reference: Kanski's Clinical Ophthalmology, 9th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.