1.A family report on congenital fibrosis of extraocular muscles syndrome caused by TUBB3 gene mutation.
Min LI ; Xin QI ; Yunping LI ; Boding TONG
Journal of Central South University(Medical Sciences) 2025;50(7):1282-1288
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
2.Research progress of iatrogenic blepharoptosis repair after double eyelid surgery.
Chinese Journal of Reparative and Reconstructive Surgery 2023;37(6):732-735
OBJECTIVE:
To summarize the etiology mechanism and treatment of iatrogenic blepharoptosis after double eyelid surgery in Asia.
METHODS:
To extensively review the literature related to iatrogenic blepharoptosis after double eyelid surgery, and to summarize and analyze the related anatomical mechanism, existing treatment options, and indications.
RESULTS:
Iatrogenic blepharoptosis is a relatively common complication after double eyelid surgery, sometimes it is combined with other eyelid deformities such as sunken upper eyelid and wide double eyelid, which makes it difficult to repair. The etiology is mainly caused by improper adhesion of tissues and scars, improper removal of upper eyelid tissue, and injury of a link of levator muscle power system. Whether blepharoptosis occurs after double eyelid surgery by incision or suture, it should be repaired by incision. The principles of repair include surgical loosening of tissue adhesion, anatomical reduction, and repair of damaged tissues. The key is to use surrounding tissues or transplanted fat to prevent adhesion.
CONCLUSION
When repairing iatrogenic blepharoptosis clinically, appropriate surgical methods should be selected based on the causes and severity of the blepharoptosis, combined with treatment principles, in order to achieve better repair results.
Humans
;
Blepharoptosis/surgery*
;
Treatment Outcome
;
Retrospective Studies
;
Blepharoplasty/methods*
;
Eyelids/surgery*
;
Iatrogenic Disease
;
Oculomotor Muscles/surgery*
3.Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension.
Laurenz WEITGASSER ; Gottfried WECHSELBERGER ; Florian ENSAT ; Rene KAPLAN ; Michaela HLADIK
Archives of Plastic Surgery 2015;42(2):214-217
Blepharoptosis is a common indication for surgery in plastic surgery units, yet its possible underlying pathology frequently remains unidentified. A 52-year-old man with a 20-year history of progressive bilateral ptosis (right>left) presented with recurrent ptosis of both eyes; he had undergone an operation on the levator aponeurosis 12 years prior. Due to the suspicion of an underlying disease, he was evaluated further. Chronic progressive external ophthalmoplegia in transition to the more severe syndromic variant Kearns-Sayre syndrome, a mitochondrial disorder causing myopathy, was diagnosed. The patient was treated with coenzyme Q10, and he underwent ptosis surgery on both eyes. This case illustrates a potentially multi-systemic disease that was diagnosed by a further evaluation of a common symptom, in this case worsening blepharoptosis. Awareness of myopathic symptoms is necessary to prevent overlooking serious yet improvable conditions.
Blepharoplasty
;
Blepharoptosis*
;
Humans
;
Kearns-Sayre Syndrome*
;
Middle Aged
;
Mitochondrial Diseases
;
Muscular Diseases
;
Ophthalmoplegia, Chronic Progressive External
;
Pathology
;
Surgery, Plastic
4.The treatment of upper eyelid sulcus using the expanded polytetrafluoroethylene implanted in orbit.
Zhou XU ; Wei MIN ; Yu ZHEYUAN ; Wu JIENENG
Chinese Journal of Plastic Surgery 2015;31(4):284-287
OBJECTIVETo explore the feasibility of the treatment of upper eyelid sulcus using the expanded polytetrafluoroethylene implanted in orbit.
METHODSFrom July 2009 to April 2011, a total of 16 patients with upper eyelid sulcus were treated for recreating youthful periorbital appearance. To correct this kind of clinical characteristic, expanded polytetrafluoroethylene with different size were used as the orbital implant to restore the orbital contents and reinforce the bony support. upper eyelid sulcus was reversed effectively.
RESULTSWith average 2.5 year follow up, upper eyelid sulcus of 16 cases was reversed effectively. No postoperative complication related to globe or affected normal physical function was found.
CONCLUSIONSThe technique of orbital implantation with Expanded Polytetrafluoroethylene is beneficial for the treatment of the upper eyelid sulcus.
Blepharoptosis ; surgery ; Eyelids ; surgery ; Feasibility Studies ; Humans ; Orbit ; Polytetrafluoroethylene ; therapeutic use ; Postoperative Complications
5.Application and therapeutic effect of frontal muscle fascia compound flap suspension for congenital blepharoptosis in children.
Wang WEI ; Liu LINBO ; Wang XIMEI ; Zhai XIAMEI
Chinese Journal of Plastic Surgery 2014;30(5):343-345
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
6.Levator Resection in the Management of Myopathic Ptosis.
Ibrahim Bulent BUTTANRI ; Didem SERIN
Korean Journal of Ophthalmology 2014;28(6):431-435
PURPOSE: To evaluate the results of levator resection in patients with myopathic ptosis. METHODS: The medical records of consecutive patients who underwent levator resection surgery performed for myopathic ptosis between October 2009 and March 2013 were reviewed. Indications for surgery were ptosis obscuring the visual axis and margin-reflex distance < or =2 mm. Surgical success was defined as clear pupillary axis when the patient voluntarily opened his eye and margin-reflex distance > or =3 mm. We analyzed the effect of levator function and Bell's phenomenon on the rates of success and corneal complication. RESULTS: This series included six male and six female patients. Levator function was between 4 and 12 mm. We performed bilateral levator resection surgery in all patients. The mean follow-up time was 14.8 months (range, 6 to 36 months). No patient was overcorrected. Adequate lid elevation was achieved after the operation in 20 eyes. Ptosis recurred in three out of 20 eyes after adequate lid elevation was achieved. Our overall success rate was 70.8%. In three eyes with poor Bell's phenomenon, corneal irritation and punctate epitheliopathy that required artificial eye drops and ointments developed in the early postoperative period, although symptoms resolved completely within 2 months of the resection surgery. No patients required levator recession or any other revision surgery for lagophthalmos or corneal exposure after levator resection. CONCLUSIONS: Levator resection seems to be a safe and effective procedure in myopathic patients with moderate or good Bell's phenomenon and levator function greater than 5 mm.
Adult
;
Aged
;
Blepharoptosis/*surgery
;
Blinking/physiology
;
Female
;
Humans
;
Male
;
Middle Aged
;
Muscular Diseases/*surgery
;
Oculomotor Muscles/*surgery
;
*Ophthalmologic Surgical Procedures
;
Postoperative Complications
7.Blepharoptosis Repair through the Small Orbital Septum Incision and Minimal Dissection Technique in Patients with Coexisting Dermatochalasis.
Korean Journal of Ophthalmology 2013;27(1):1-6
PURPOSE: To describe a modified surgical technique for blepharoptosis repair through a small orbital septum incision and minimal dissection, along with the results obtained in patients with coexisting dermatochalasis. METHODS: A retrospective chart review included 33 patients (52 eyelids) with blepharoptosis coexisting with dermatochalasis, surgically corrected through a small orbital septum incision and minimal dissection after redundant upper lid skin excision, by placing a single fixation suture between the levator aponeurosis and the tarsal plate. Outcome measures included the pre- and postoperative marginal reflex distances (MRD1), eyelid contour, post-operative complications, and need for reoperation. RESULTS: The pre- and postoperative MRD1 averaged 1.1 +/- 0.8 mm and 2.8 +/- 1.1 mm, respectively. Of the 33 patients, 9 patients (9 eyelids) underwent surgery on one eyelid for unilateral blepharoptosis and dermatochalasis (Group I), 5 patients (5 eyelids) underwent a simple skin excision blepharoplasty of the contralateral eyelid (Group II), and 19 patients (38 eyelids) underwent bilateral blepharoptosis and dermatochalasis repair (Group III). Of the 14 eyelids that underwent unilateral ptosis repair (Groups I and II), 12 eyelids (85.7%) showed less than a 1-mm difference from the contralateral eyelid. Of the 38 eyelids that underwent bilateral ptosis repair (Group III), 27 eyelids (71.1%), 5 eyelids (13.1%), and 6 eyelids (15.8%) had excellent, good, and poor outcomes, respectively. Overall, 44 eyelids (84.6%) out of a total of 52 eyelids had successful outcomes; the remaining 8 eyelids demonstrated unsatisfactory eyelid contour was corrected by an additional surgery. CONCLUSIONS: Blepharoptosis repair through a small orbital septum incision and minimal dissection can be considered an efficient technique in patients with ptosis and dermatochalasis.
Aged
;
Aged, 80 and over
;
Blepharoplasty/*methods
;
Blepharoptosis/*surgery
;
Dissection/*methods
;
Eyelids/*surgery
;
Female
;
Follow-Up Studies
;
Humans
;
Male
;
Middle Aged
;
Oculomotor Muscles/surgery
;
Orbit/*surgery
;
Retrospective Studies
;
*Sutures
;
Treatment Outcome
8.Ptosis Repair Using Preserved Fascia Lata with the Modified Direct Tarsal Fixation Technique.
Korean Journal of Ophthalmology 2013;27(5):311-315
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
9.Outcomes of Levator Resection at Tertiary Eye Care Center in Iran: A 10-Year Experience.
Alireza ABRISHAMI ; Abbas BAGHERI ; Hossein SALOUR ; Maryam ALETAHA ; Shahin YAZDANI
Korean Journal of Ophthalmology 2012;26(1):1-5
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
10.One stage correction of sunken eyes combined with ptosis.
Cui-yun LIU ; Da ZHOU ; Kai LIU
Chinese Journal of Plastic Surgery 2012;28(6):424-427
OBJECTIVETo investigate the technique and therapeutic effect for correction of sunken eyes combined with ptosis.
METHODSIn order to adjust the levator muscle tension and the relationship between levator aponeurosis and tarsus plate, multiple individualized treatment was selected, including levator aponeurosis restoration, levator aponeurosis plication, or shorten, or combination. Then the orbital fat was transferred to the depressed area, or autologous fat particles were collected and injected into the depressed area within the orbital fat fascia. After the orbital septum fascia was restored, the incision was closed primarily.
RESULTS15 cases (30 eyes) were treated. 11 cases were followed up for 6-40 months (average, 9.5 months) with satisfactory cosmetic and functional result. No recurrence of ptosis happened.
CONCLUSIONSOne-stage correction of sunken eyes combined with ptosis can be achieved with autologous fat injection or orbital fat transposition. Good cosmetic and functional result can be achieved.
Adipose Tissue ; transplantation ; Aged ; Blepharoplasty ; methods ; Blepharoptosis ; surgery ; Eyelids ; Fasciotomy ; Humans ; Oculomotor Muscles ; surgery ; Orbit

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