Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree.
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder. We report this condition affecting 4 members of a Pakistani family across three generations. A 2-year-old girl was brought to the clinic by her father for the correction of her shortened palpebral fissures. Examination findings were consistent with BPES. The girl's father, paternal grandfather and paternal aunt also had identical features. The distance between the medial canthi of the index case was 30 mm, and the lengths of vertical and horizontal palpebral fissure were 6 mm and 20 mm, respectively. BPES must be considered an important differential diagnosis in patients presenting with blepharoptosis and blepharophimosis.
Chaudhry
Tanveer Anjum
TA
Section of Ophthalmology, Department of Surgery, The Aga Khan University, Karachi. tanveer.chaudhry@aku.edu
Khalid
Mirza Umair
MU
Saleem
Taimur
T
Ahmad
Khabir
K
D016569:Blepharophimosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D001763:Blepharoptosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D002675:Child, Preschool; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005640:Follicle Stimulating Hormone; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D010154:Pakistan; D010375:Pedigree; D013577:Syndrome
D051858:Forkhead Transcription Factors; D005640:Follicle Stimulating Hormone