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

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*

OBJECTIVE: To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness. METHODS: The infant was subjected to genetic testing, and her clinical features were compared with syndromes associated with variants of the candidate gene. RESULTS: The patient has featured long fingers, long and overlapped toes, musk-like face, blepharophimosis, ptosis, and lacrimal duct anomaly. She was found to harbor a heterozygous de novo variant NM_012330.3: c.3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene. Her clinical phenotype and genotype have both conformed to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS). CONCLUSION The child was diagnosed with SBBYSS syndrome due to the c.3040C>T (p.Gln1014*) variant of the the KAT6B gene. Discovery of the unique features has expanded the phenotypic spectrum of this syndrome.
Female ; Humans ; Blepharophimosis/genetics* ; Blepharoptosis ; Genotype ; Histone Acetyltransferases ; Infant

A boy, aged 1 year and 7 months, was hospitalized due to weakness in both lower limbs and blepharoptosis, which showed progressive aggravation and developed into irregular breathing. Neurological examinations showed lethargy, blepharoptosis, grade 4 muscle strength of both upper limbs, grade 3 muscle strength of both lower limbs, and disappearance of tendon reflex. Laboratory tests revealed albuminocytological dissociation in cerebrospinal fluid, disappearance of H reflex, and positive serum anti-GD1b IgG. The boy was finally diagnosed with Guillain-Barré syndrome (GBS) overlapping with Miller-Fisher syndrome and Bickerstaff brainstem encephalitis. He recovered and was discharged after treatment including immunoglobulin, plasma exchange, and respiratory support. The GBS overlap syndromes in children have strong clinical heterogeneity due to the injury of both peripheral nerve and brainstem, among which anti-GD1b antibody-related GBS overlap syndromes have special clinical manifestations and complex neuroelectrophysiological changes and are thus difficult to diagnose. Nerve conduction velocity tests, especially H reflex test, should be performed for children with weakness in both lower limbs and blepharoptosis.
Blepharoptosis ; Child ; Encephalitis ; Guillain-Barre Syndrome ; Humans ; Lower Extremity ; Male ; Miller Fisher Syndrome

A boy, aged 2 years and 4 months, had a sudden onset of blepharoptosis of the right eyelid, accompanied by the mouth deviated to the right side, drinking cough, nystagmus, and developmental regression. Cranial MRI showed softening lesions formed after infarction of the right dorsolateral medulla oblongata, while head CT angiography showed no imaging of the proximal part of the V4 segment of the right vertebral artery. The child was diagnosed with dorsolateral medulla oblongata syndrome and was treated with gamma globulin to regulate immune function, with mannitol to reduce neuronal edema, with low-molecular-weight heparin sodium to improve local hypercoagulation of occluded blood vessels, with hyperbaric oxygen to improve local ischemia and hypoxia and promote the recovery of brain function, and with neuromuscular electrical stimulation to promote the recovery of neuromuscular function. Before discharge, only mild right ataxia and Horner syndrome remained. This article reports the first case of infantile dorsolateral medulla oblongata syndrome and provides experience for the diagnosis and treatment of the disease.
Blepharoptosis/etiology* ; Child, Preschool ; Dysarthria/etiology* ; Humans ; Lateral Medullary Syndrome/diagnosis* ; Magnetic Resonance Imaging ; Male ; Medulla Oblongata/diagnostic imaging*

BACKGROUND: Blepharoptosis is the drooping of the margin of the upper eyelid, which narrows the palpebral fissure and makes it difficult to open the eye. Various surgical methods are used to correct blepharoptosis and have been investigated in different studies. After surgery, blepharoptosis can relapse over time, which affects a patient’s satisfaction with the operation. However, few studies have investigated the long-term outcomes of patients after blepharoptosis surgery. METHODS: From 1991 to 2013, 325 patients (480 eyelids) underwent frontalis muscle transfer or Müller-aponeurosis composite flap advancement in our clinic. We analyzed 12 patients (13 eyelids) with severe ptosis who had been followed-up for more than 5 years. Six patients underwent frontalis muscle transfer for the correction of seven eyelids, while Müller-aponeurosis composite flap advancement was performed on six patients (six eyelids). The marginal reflex distance (MRD1), area of corneal exposure (ACE), and height of the eyebrow were used to analyze the objective outcomes, and the Glasgow Benefit Inventory questionnaire was used for the analysis of subjective patient satisfaction. RESULTS: There were no significant differences in the MRD1, ACE, and eyebrow height between the two methods used to correct ptosis. However, over the long-term (>5 years), the MRD1, ACE, and eyebrow height were better maintained in patients who underwent Müller-aponeurosis composite flap advancement than in patients who received frontalis muscle transfer. CONCLUSIONS: Both surgeries were effective for blepharoptosis correction. However, Müller-aponeurosis composite flap advancement was better for long-term maintenance after surgery than frontalis muscle transfer.
Blepharoplasty ; Blepharoptosis ; Eyebrows ; Eyelids ; Humans ; Patient Satisfaction ; Recurrence ; Reflex

No abstract available.
Blepharoptosis ; Headache ; Sinusitis

BACKGROUND: To present the outcomes of the tarsal switch procedure using an anterior approach to correct severe ptosis with poor levator muscle function ( < 4 mm) with absent or poor Bell’s phenomenon. METHODS: This retrospective case series included 11 patients with severe neurogenic or acquired myogenic palpebral ptosis. All patients underwent the tarsal switch procedure through an anterior approach from 2012 to 2015. Margin reflex distance (MRD1 and MRD2) and the palpebral fissure were evaluated preoperatively and postoperatively. Data were compared using the Wilcoxon signed-rank test. P-values < 0.05 were considered to indicate statistical significance. RESULTS: Surgery was performed on 18 eyelids (11 patients). The median age at surgery was 57 years (range, 29-86 years). Four patients had unilateral ptosis and seven had bilateral ptosis. Nine patients had myogenic ptosis and two had neurogenic ptosis. Postoperatively, the chin-up position improved in all patients. The MRD1 increased statistically significantly, from 0 mm preoperatively to 1.0 mm postoperatively (P=0.001). The MRD2 decreased statistically significantly, from 4.5 mm preoperatively to 3.0 mm postoperatively (P=0.001). The palpebral fissure did not change (4.0 mm preoperatively to 4.0 mm postoperatively) (P=0.13). CONCLUSIONS: The tarsal switch procedure through an anterior approach is an effective alternative for correcting severe ptosis, especially neurogenic or acquired myogenic ptosis. This procedure can be performed with minimal risk of ocular surface exposure and provides stable outcomes.
Blepharoptosis ; Eyelids ; Humans ; Reflex ; Retrospective Studies ; Transplantation

PURPOSE: To describe the demographics, relative incidence of subtypes, and clinical characteristics of blepharoptosis in Korean patients. METHODS: This is a retrospective, observational case series consisting of 2,328 patients who underwent ptosis surgery from 1991 to 2014 at a tertiary referral hospital in Korea. The patients were classified according to the type of ptosis and the evaluation of clinical characteristics including levator muscle function (LF) and degree of ptosis. RESULTS: Of the 2,328 patients, 1,815 (78%) had congenital ptosis and 513 (22%) had acquired ptosis. Simple congenital ptosis is the most common type overall (73.7%), and aponeurotic ptosis is the most common acquired type. More than three-quarters of eyes with congenital ptosis were affected in a moderate (34.4%) to severe degree (41.3%), and most of these eyes had fair (33.7%) to poor LF (60.1%). Among eyes with acquired ptosis, approximately three-quarters were affected in a mild (33.3%) to moderate degree (41.0%), with 63.3% of these eyes having good LF. The most widely used surgical technique was frontalis suspension (55.1%), followed by levator resection (29.0%) and aponeurosis repair (14.8%). At 3 years after the first surgery, 15.7% of patients with congenital ptosis and 10.4% of patients with acquired ptosis underwent reoperation. CONCLUSIONS: Although the prevalence has decreased from previous years, the proportion of cases with congenital ptosis was higher in this study than has been shown in research conducted in the West. The majority of eyes with congenital ptosis was affected to a severe degree and had poor LF, while those with acquired ptosis were affected to a moderate degree and had good LF. More cases with acquired ptosis presented with fair to poor LF, and frontalis suspension surgery was performed more commonly compared to previous studies. The reoperation rate was higher in congenital ptosis compared to acquired ptosis.
Blepharoptosis* ; Classification ; Demography ; Humans ; Incidence ; Korea* ; Prevalence ; Reoperation ; Retrospective Studies ; Tertiary Care Centers

Performing rhinoplasty using filler injections, which improve facial wrinkles or soft tissues, is relatively inexpensive. However, intravascular filler injections can cause severe complications, such as skin necrosis and visual loss. We describe a case of blepharoptosis and skin necrosis caused by augmentation rhinoplasty and we discuss the patient's clinical progress. We describe the case of a 25-year-old female patient who experienced severe pain, blepharoptosis, and decreased visual acuity immediately after receiving a filler injection. Our case suggests that surgeons should be aware of nasal vascularity before performing an operation, and that they should avoid injecting fillers at a high pressure and/or in excessive amounts. Additionally, filler injections should be stopped if the patient complains of severe pain, and appropriate measures should be taken to prevent complications caused by intravascular filler injections.
Adult ; Blepharoptosis ; Dermal Fillers ; Female ; Humans ; Hyaluronic Acid* ; Necrosis* ; Oculomotor Nerve Diseases* ; Oculomotor Nerve* ; Rhinoplasty ; Skin* ; Surgeons ; Visual Acuity