Congenital blepharophimosis

Congenital blepharophimosis

Description, Causes and Risk Factors:

Decrease in the width of the palpebral aperture without fusion of lid margins.

Congenital blepharophimosis syndrome, an autosomaldominant hereditary disease, is characterized by bilateral ptosis, shortening of the horizontal eyelid fissure, epicanthus inversus, and increased distance between the inner canthi. Although congenital blepharophimosis has been associated with many ophthalmic and systemic abnormalities, a review of the Pubmed database by us did not reveal any reported cases of alacrima and blepharophimosis syndrome. Alacrima or lacrimal gland agenesis is quite rare. There have been only a few reports in the literature of the complete absence of the lacrimal glands. In LADD syndrome patients have absence of lacrimal glands, NLD obstruction, temporal bone abnormalities, epilepsy, mild hearing loss, and agenesis of the salivary glands. There have also been reported cases of isolated alacrima, without the presence of associated ocular and systemic abnormalities.

So far, less than 30 patients have been reported worldwide. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases described two affected sisters and a first cousin, favoring autosomal recessive inheritance. Autosomal dominant, X-linked and mitochondrial inheritance have also been suggested.

Congenital blepharophimosis

Researchers believe the mutation responsible for congenital blepharophimosis occurs on a gene known as FOXL2 that is located on the long arm of chromosome 3 (3q23).

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 3q23" refers to band 23 on the long arm of chromosome 3. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Blepharophimosis syndrome affects males slightly more often than females. There are between 50 and 100 cases of this disorder reported in the medical literature.


    Small eyelids that are short in vertical dimensions in some cases causing ectropion (lower eyelid too short to adequately cover the eye).

  • Eyelids shorter from side to side.

  • Small opening for eyes to see through.

  • Eyes spread apart from each other (telecanthus) that can make the nose look like it is flattened.

  • Sagging of eyelids (ptosis).

  • Arching of eyebrows.

  • Bones above eyes (supraorbital ridges) slightly flattened.

  • Epicanthal folds (a fold of extra tissue near the central corner of the eye opening).


The diagnosis of congenital blepharophimosis depends on clinical findings, a good history and gene testing for abnormalities of the FOXL2 gene.


Eye surgery may be performed to reduce the epicanthus inversus, blepharophimosis and ptosis. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Surgical Options May Include:

    Lateral canthoplasty: The purpose was to enlarge the horizontal dimension of the palpebral aperture. The proposed site of the new lateral canthus was marked by gentian violet. The lateral canthotomy was done upto this mark. The conjunctiva was mobilized and was sutured with 6 o' black silk to this new canthal area. A double arm suture was then passed and the knot was tied over a rubber peg.

  • Repair of telecanthus and epicanthus in versus: Two methods were tried. The one was by Y-V procedure of Verwey and the other was by Mustarde's rectangular flap operation. In both the operations the shor­tening and medial shifting of the medial palpebral ligament was done. Merselene thread was used for fixing of the medial palpebral ligament without any use of stain­less steel wires and bone drill.

  • Levator resection by skin approach was done in all cases except one case in which fascia lata sling was done. All these steps were carried out at the interval of 4 to 6 weeks under general anesthesia.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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