Congenital fibrosis of extraocular muscles (CFEOM) syndrome is a genetically determined congenital disorder characterized by non-progressive ophthalmoplegia, restrictive ocular fixation, and ptosis. Its estimated incidence is approximately 1 in 230 000 to 250 000. This paper reports a family with type 3 CFEOM diagnosed at the Second Xiangya Hospital of Central South University. The proband was a 10-year-old female who presented with right esotropia and right upper eyelid ptosis. Whole-exome sequencing revealed a heterozygous c.904G>A mutation in the TUBB3 gene. Genetic testing of family members identified that the proband's mother carried the same mutation and exhibited left eyelid ptosis. The child underwent strabismus correction followed by ptosis repair, both of which led to marked postoperative improvement. For children presenting with congenital extraocular movement restriction and ptosis, genetic testing plays a crucial role in confirming the diagnosis and guiding family analysis. Additionally, individualized surgical intervention can significantly improve both ocular function and cosmetic appearance.
Humans ; Female ; Child ; Ophthalmoplegia/congenital* ; Fibrosis/congenital* ; Blepharoptosis/surgery* ; Mutation ; Tubulin/genetics* ; Pedigree ; Male ; Esotropia/genetics* ; Congenital Cranial Dysinnervation Disorders

OBJECTIVETo investigate the application and therapeutic effect of frontal muscle fascia compound flap suspension for congenital blepharoptosis in children.

METHODSFrom July 2010 to March 2012, 21 children (23 eyes) with congenital blepharoptosis were treated with frontal muscle fascia compound flap suspension. The therapeutic effect was observed and followed up.

RESULTS17 patients were followed up for 3-6 months with relapse in one case. The ptosis was corrected in the other 1 cases.

CONCLUSIONThe frontal muscle fascia compound flap suspension is effective and practical with minimal morbidity and lower complication for the correction of congenital blepharoptosis.

Blepharoplasty ; methods ; Blepharoptosis ; congenital ; surgery ; Child ; Facial Muscles ; Fascia ; transplantation ; Frontal Bone ; Humans ; Oculomotor Muscles ; Recurrence ; Surgical Flaps ; transplantation

PURPOSE: To evaluate the clinical outcome of frontalis sling operation using preserved fascia lata with modified direct tarsal fixation in congenital ptosis patients. METHODS: Forty-seven congenital ptosis patients (60 eyes) who underwent a frontalis sling operation using preserved fascia lata with modified direct tarsal fixation method between March 2001 and December 2008 with a mean follow-up time of 52 months (range, 26 to 122 months) were included in this study. The medical records were reviewed retrospectively. RESULTS: A retrospective chart review was conducted in patients who were diagnosed with congenital ptosis and underwent frontalis suspension surgery using preserved fascia lata with modified direct tarsal fixation from 2001 through 2008 at Dong-A University Hospital. The patients were 34 males and 14 females. The age of the patients ranged from 1 to 18 years with an average age of 4.51 years. At a mean follow-up of 60 months, good final results were achieved in 46 eyes (76.6%), fair in 8 eyes (13.3%), and poor in 6 eyes (10%). The poor results consisted of undercorrection of 1 eye and recurrence in 5 eyes. The accumulative survival rate was 87.2%, with all recurrences occurring within 12 months postoperatively. CONCLUSIONS: Frontalis sling operation by preserved fascia lata with modified direct tarsal fixation appears to be an effective treatment for severe congenital ptosis, showing good long term results.
Adolescent ; Blepharoplasty/*methods ; Blepharoptosis/congenital/*surgery ; Child ; Child, Preschool ; Fascia Lata/*transplantation ; Female ; Follow-Up Studies ; Graft Survival ; Humans ; Infant ; Male ; Recurrence ; Retrospective Studies ; *Suture Techniques ; Transplantation, Autologous

PURPOSE: To assess outcomes of levator resection for the surgical correction of congenital and acquired upper lid ptosis in patients with fair to good levator function and evaluation of the relationship between demographic data and success of this operation. METHODS: In a retrospective study, medical records of patients with blepharoptosis who had undergone levator resection over a 10-year period and were followed for at least 3 months were reviewed. RESULTS: Overall, 136 patients including 60 (44.1%) male and 76 (55.9%) female subjects with a mean age of 20 +/- 13.8 years (range, 2 to 80 years) were evaluated, of whom 120 cases (88.2%) had congenital ptosis and the rest had acquired ptosis. The overall success rate after the first operation was 78.7%. The most common complication after the first operation was undercorrection in 26 cases (19.1%), which was more prevalent among young patients (p = 0.06). Lid fissure and margin reflex distance (MRD1) also increased after levator resection (p < 0.001). Age, sex, type of ptosis, amblyopia, levator function, MRD1, lid fissure and spherical equivalent were not predictive of surgical outcomes of levator resection. CONCLUSIONS: Levator resection has a high rate of success and few complications in the surgical treatment of congenital and acquired upper lid ptosis with fair to good levator function. Reoperation can be effective in most cases in which levator resection has been performed.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Blepharoplasty/methods ; Blepharoptosis/*congenital/*surgery ; Chi-Square Distribution ; Child ; Child, Preschool ; Eyelids/*abnormalities/*surgery ; Female ; Humans ; Infant ; Iran ; Logistic Models ; Male ; Middle Aged ; Oculomotor Muscles/*abnormalities/*surgery ; Retrospective Studies ; Treatment Outcome

OBJECTIVETo evaluate the clinical result of check ligament suspension for correction of congenital severe blepharoptosis.

METHODSSince Jan. 2010 to Nov. 2010, 15 eyes in 15 cases with congenital severe blepharoptosis were treated with the check ligament suspension. Palpebral aponeurosis was exposure by opening fascia palpebral during blepharoplasty. Palpebral aponeurosis was cut off about 5 mm above the tarsus. The check ligament was seen in the intermuscular space between the segment of levator and the anterior one third of superior rectus attached to the conjunctival fornix. Congenital blepharoptosis could be corrected by suturing the check ligament and levator palpebrae superior to the upper margin of tarsal plate with 3-0 silk thread. Double eyelid plasty was carried out in the end.

RESULTSThe follow-up period was 3-11 months with good cosmetic result. All the cases could close their eyes in 15 to 30 days with no complication.

CONCLUSIONSIn conclusion, this technique is quite successful in raising the level of the upper eyelid in severe congenital blepharoptosis. The check ligament moves in a similar direction as the natural movement of levator muscle, so both the postoperative static and dynamic appearance of the upper lid is more natural.

Adolescent ; Adult ; Blepharoplasty ; methods ; Blepharoptosis ; congenital ; surgery ; Female ; Humans ; Ligaments ; surgery ; Male ; Oculomotor Muscles ; surgery ; Young Adult

OBJECTIVETo investigates the surgical treatment for congenital anophthalmia.

METHODSThe operation was performed in two steps. At first, the orbit was enlarged and the tarsus was reconstructed with cartilage transplantation. At the second step, blepharoptosis was corrected with levator shortening or frontalis muscle suspension.

RESULTSFive cases have been treated successfully with this method and satisfactory results were obtained.

CONCLUSIONOrbit amplification and tarsus reconstruction along with ptosis correction is an effective treatment for anophthalmia both aesthetically and functionally.

Anophthalmos ; surgery ; Blepharoplasty ; Blepharoptosis ; congenital ; surgery ; Cartilage ; transplantation ; Facial Muscles ; surgery ; Humans ; Oculomotor Muscles ; surgery ; Orbit ; surgery ; Reconstructive Surgical Procedures ; Surgical Flaps ; Treatment Outcome

OBJECTIVETo investigate the role of releasing the fibrous bundles across the levator muscle between the medial canthus and lateral canthsus near the top of tarsus in the correction of the congenital blepharoptosis.

METHODSTwenty-seven patients with 40 eyes of blepharoptosis were undergoing the treatment. It was performed by releasing the fibrous bundles across the levator muscle between the medial canthus and lateral canthsus near the top of tarsus to correct the mild and moderate blepharoptosis. A further procedure can also be added to by folding the levator aponeurosis if necessary. In the severe blepharoptosis, the frontalis aponeurose flap may be applied for the suspension as well during the operation.

RESULTSOf the 40 eyes in 27 cases with mild, moderate and severe blepharoptosis were treated by using this method, with 38 eyes corrected satisfactorily and 2 eyes corrected mostly in the following-ups from 3 months to 1 year.

CONCLUSIONThe above mentioned technique may be a good, simple and effect method to corret congenital blepharoptosis.

Adolescent ; Blepharoplasty ; methods ; Blepharoptosis ; congenital ; surgery ; Child ; Eyelids ; surgery ; Facial Muscles ; Humans ; Oculomotor Muscles ; surgery ; Surgical Flaps

Lyodura(R) is a commercial name of a cleaned, desantigenized, desenzymatized, rendered free of pyogenics, sterilized by gamma rays, and lyophilized dura. Frontalis suspension with Lyodura(R) was performed on a total of 16 patients (21 lids) of congenital ptosis with levator muscle function of 3mm or less in the ptotic lid. The follow-up period ranged from 2 to 39 weeks with a mean of 19.6 weeks. Postperative lid levels were judged good, fair, and poor. Good results occurred in 12 of 21 procedures (57.1%) and fair results in 6 of 21 procedures (28.6%). The summation of these two indicates an over all satisfactory result of 18 of 21 cases (85.7%).
Blepharoptosis/*congenital/therapy ; Child ; Child, Preschool ; Collagen/*therapeutic use ; Eyelids/surgery ; Humans ; Infant