The Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is an uncommon genetic disorderwith a series of abnormalities affected the eyelids.
Chromosome location: 3q22-23
Gene affected: FOXL2
Inheritance: autosomal dominant, or sporadic
Key clinical features:
(1) blepharophimosis (shortening of the horizontal orbital fissure)
(2) congenital ptosis
(3) epicanthus inversus (vertical fold of skin from the lower eyelid up either side of the nose)
The epicanthus inversus results in lateral displacement of the inner canthi with normal interpupillary distance (telecanthus).
There are 2 types:
(1) Type I: with premature ovarian failure and female infertility
(2) Type II: without female infertility
Additional clinical features:
(1) developmental delay
(2) normal lifespan
(3) variable microcephaly
Additional abnormalities may be present if the genetic defect is greater.
