Page 35 - Plasticos-Vol-3

V O L 3 2019 I S S U E

STRANGER THINGS: CASE REPORT ON BPES

KEY WORDS:

Blepharophimosis, Ptosis, Epicanthus Inversus ,

BPES, C-U plasty, Cosmetic surgery.

Introduction Case Report

Blepharophimosis ptosis epicanthus A 23 year young unmarried lady belonging
inversus syndrome (BPES) is a relatively to an Asian Indian family presented
rare congenital disorder, which usually to our institute with complaints of -
affects development of the eyelids & usually
presents with classical eye manifestations. In 1. Bilateral ptosis,
some cases, it is associated with premature 2. Absence of eyefold crease in upper eyelid.
ovarian failure (POF). BPES is of two types, [ Fig. 1]
type I and type II. Type I is associated with
POF along with eyelid malformations,
while Type 2 has only eyelid malformations.

Genetics - Mutations of the forkhead
transcription factor 2 (FOXL2) gene,
located on chromosome 3q23 [1]. Both are
associated with FOXL2 gene mutation,
while Type 1 having complete loss of FOXL2
protein and Type 2 having partial loss. It is
usually Autosomal Dominant inheritance.
Fig. 1 (pre-op)
Incidence : 1 in 50,000 live births [2].
Due to lack of case reports available in On thorough examination –
literature about this disease, no standard 1. Visual acuity is normal (VA – 6/6 bilat
treatment protocol is established. eral eye without spectacles),
2. Colour vision is normal,
3. Depressed nasal root,
4. No eyefold crease in the upper eye
lid (Asian Eyelid),
5. Shortened horizontal palpebral fis
sure – Blepharophimosis.
6. Impaired (Poor) function of levator
palpebrae superioris of upper eyelid
– Ptosis.
7. A vertical skin fold arising from the
lower eyelid that inserts medially
into the upper eyelid - Epicanthus 35
Inversus.