What causes Blepharophimosis syndrome?
BPES is caused by a mutation in a gene called FOXL2, which controls the production of the FOXL2 protein. This protein, in turn, is involved in the development of the muscles in the eyelids as well as the growth and development of ovarian cells.
How common is blepharophimosis?
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare developmental condition affecting the eyelids and ovary. Typically, four major facial features are present at birth: narrow eyes, droopy eyelids, an upward fold of skin of the inner lower eyelids and widely set eyes.
What is Blepharophimosis syndrome?
Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes.
Does BPES affect vision?
In addition, there is an increased distance between the inner corners of the eyes (telecanthus ). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited. Other structures in the eyes and face may be mildly affected by BPES.
Does blepharitis run in families?
Blepharitis can begin at any age. One especially common time is pre-puberty and adolescence when hormones and oil glands are very active. Blepharitis often runs in families.
Can ptosis be hereditary?
There are numerous hereditary causes of acquired ptosis such as progressive external ophthalmoplegia (PEO), oculopharyngeal muscular dystrophy (OPMD), Kearns-Sayre syndrome (KSS), and myotonic dystrophy; however, the subject of this paper is congenital ptosis.
Can BPES be corrected?
Various surgical techniques have been described for treating BPES. They are as follows: V-Y procedure, Mustarde’s double Z-plasty, 5-flap technique, plication of medial palpebral ligaments and trans-nasal wire fixation for epicanthus and telecanthus correction [6–9].
Is BPES a disability?
Summary. Blepharophimosis intellectual disability syndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids ( ptosis ) and intellectual disability. Dr.
Which gene is known to be associated with BPES?
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) occurs via a loss-of-function mechanism (haploinsufficiency). FOXL2 is a small single-exon gene of 2.7 kb.
Is ptosis a disability?
Without significant interference of vision, under Diagnostic Code 6019 the ptosis would be rated on the basis of disfigurement. In regard to the left eyelid disfigurement, the descriptions of the disability do not suggest that it is severe or productive of unsightly deformity as would be needed for a 30 percent rating.