A Rare Case of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome with Antimongloid Slant: Case Report
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https://doi.org/10.56692/upjo.2022100107Keywords:
Blepharophimosis, Epicanthus inversus syndrome, Ptosis, Antimongloid slantDimensions Badge
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Abstract
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare genetic condition caused by a mutation in the FOXL2 gene and it is inherited in an autosomal dominant pattern. Identification and diagnosis of BPES syndrome by an ophthalmologist are relatively easy, based on the characteristic ocular manifestations. The most common age group at the time of diagnosis is 4 to 8 years. Here, we present a case of BPES in a patient who presented to our OPD side with the syndrome at the age of 20 years. There is a need for increased awareness about this condition among ophthalmologists, as early diagnosis is the key factor in preventing long-term complications.
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