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

Objectives: Staphylococcal blepharitis is a common ocular condition that can cause significant visual morbidities due to corneal complications. This study described the clinical profile of patients with staphylococcal blepharitis seen in a tertiary referral eye center, and determined the frequency and the type of corneal complications, the possible reasons for the delay in diagnosis, and the management prior to the consult. Methods: This study was a single-center, five-year retrospective case series design. The charts of all patients from January 2016 to December 2021 with the diagnosis of staphylococcal blepharitis seen at the External Disease and Cornea Clinic of the Philippine General Hospital that have fulfilled the inclusion and exclusion criteria were included. The data extracted were age, sex, chief complaint, laterality, time of onset of symptoms to consult, previous consults, lid and lid margin findings, conjunctival and corneal findings, pre- and post-treatment uncorrected distance visual acuity, duration of follow-up, and treatments received. Results: Fifty-five (55) charts out of 107 charts with a diagnosis of staphylococcal blepharitis were included. Eighty percent (80%) or 44 patients had bilateral disease. Ninety-nine (99) eyes of 55 patients were analyzed. The median age of the study population was 19 years. Sixty-seven percent (67%) were female, and 33% were male. The mean duration of follow-up at the External Disease and Cornea Clinic was 10.8 ± 14.61 months. Corneal opacity, eye redness, and blurring of vision comprised 70% of the reasons for consult. The mean time from the onset of symptoms to consult was 18.36 ± 25.69 months. Sixty-seven percent (67%) had prior consults elsewhere and 45% came in with a different diagnosis. Seventy-eight (78) eyes had fibrin or crust on the lashes. Fifty percent (50%) of the eyes had concomitant conjunctivitis, while 30% had meibomitis. Fifty-eight percent (58%) of patients had corneal complications. Seventy-two percent (72%) of eyes had bilateral involvement. The median age of patients with corneal complications subgroup was 13 years. The most common corneal complications noted were neovascularization, phlyctenulosis, pannus formation, and marginal infiltrates or ulcers. Twenty-two percent (22%) of all study eyes had visually disabling corneal complications like corneal ulcer, descemetocele, corneal perforation, and corneal scar. Ninety percent (90%) of the patients received standard medical treatment and three patients underwent penetrating keratoplasty. The mean uncorrected distance visual acuity at initial consult of eyes with corneal complication was 20/55 (LogMAR 0.43 ± 0.51) and 20/35 (LogMAR 0.25 ± 0.40) after treatment (p = 0.032). Conclusion Staphylococcal blepharitis was most prevalent among young female patients, and it affected both eyes. Almost all patients manifested the typical lid margin lesions. Nearly 60% of the patients presented with corneal complications and 22% had corneal lesions that were potentially blinding. Close to 50% had delay in treatment due to misdiagnosis.
blepharitis ; staphylococcus ; cornea ; blindness

OBJECTIVE: To evaluate the effect of intense pulsed light (IPL) in the treatment of chronic hordeolum. METHODS: Patients with chronic hordeolum who underwent IPL treatment were enrolled in this study. According to the severity of hordeolum, the patients were treated with IPL 3 to 5 times. Patients' satisfaction and visual analog scale scores for ocular discomfort symptoms before and after treatment were collected. The number, congestion, long diameter, short diameter and area of nodules were also recorded and measured. Finally, eyelid margin signs, meibum quality, meibomian gland expressibility, meibomian gland dropout, tear meniscus height, and corneal fluorescein staining were scored. RESULTS: 20 patients were enrolled in this study. The eyelid margins were congestive and swollen, with blunt rounding or irregularity. The meibum was cloudy or toothpaste-like. The meibomian gland expressibility, meibomian gland dropout and tear meniscus height were reduced. The cornea showed scattered fluorescein staining. After treatment, score of visual analog scale, congestion and size of nodules were significantly reduced. Eyelid margin signs, meibum quality, meibomian gland expressibility, tear meniscus height and corneal fluorescein staining scores were improved. Meibomian gland dropout had no significant change. No side effects occurred during treatment. CONCLUSIONS IPL is beneficial for the treatment of chronic hordeolum.
Humans ; Hordeolum ; Meibomian Glands ; Tears ; Fluoresceins

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

OBJECTIVE: To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis. RESULTS: The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3). CONCLUSION The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.
Blepharophimosis ; Child ; Congenital Hypothyroidism ; Facies ; Female ; Heart Defects, Congenital ; Histone Acetyltransferases/genetics* ; Humans ; Intellectual Disability ; Joint Instability ; Mutation ; Phenotype

OBJECTIVE: To analyze the clinical manifestations and gene variants of patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). METHODS: Clinical data of 7 pedigrees affected with BPES were collected, and genomic DNA was extracted from peripheral blood samples of the probands and their relatives. All exons of the FOXL2 gene were subjected to Sanger sequencing. Those with negative findings were further screened by targeted capture and next generation sequencing (NGS) and microarray analysis. Pathogenicity of candidate variants were predicted by search of PubMed and related databases, and the impact of the variants was interpreted by protein prediction software. Diagnosis was confirmed by clinical phenotype, medical history and mutation analysis. RESULTS: A pathogenic variant was identified in six of the 7 pedigrees, which included four known pathogenic variants and one novel FOXL2 c.299dupA variant. A heterozygous 3q22.3q23 deletion, which encompassed the FOXL2 gene, was identified in another pedigree.As predicted, the c.299dupA frameshift mutation of FOXL2 gene can lead to the premature termination of protein translation, which is pathogenic. CONCLUSION A novel and 5 known pathogenic variants have been identified in six pedigrees affected with BPES by the combined Sanger sequencing, target capture NGS and microarray analysis. Above findings have enabled genetic counseling and prenatal diagnosis for these pedigrees.
Blepharophimosis/genetics* ; Forkhead Box Protein L2/genetics* ; Forkhead Transcription Factors/genetics* ; Humans ; Mutation ; Pedigree ; Phenotype ; Skin Abnormalities ; Urogenital Abnormalities

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*

PURPOSE: The Ocular Surface Disease Index (OSDI) and the Standardized Patient Evaluation of Eye Dryness (SPEED) which are standard questionnaires of dry eye syndrome were used to determine the associations between clinical dry eye tests and meibomian gland dysfunctions (MGD).METHODS: Forty-one patients with MGD were enrolled in this study. The score of the dry eye syndrome questionnaire and the degree of blepharitis (score: 0–4), Schirmer test results, degree of fluorescence staining of cornea (Oxford Grading System), tear break-up time (TBUT), Pentacam imaging, and anterior segment optical coherence tomography results were used to compare and analyze the results of each test for possible correlations with the dry eye questionnaire answers.RESULTS: There was a significant correlation between OSDI and SPEED (R = 0.278, p = 0.011). SPEED was correlated with the Oxford grade (R = 0.478, p < 0.001) and MGD grade (R = 0.280, p = 0.011) while there was no significant correlation with corneal aberrations, tear meniscus height, tear meniscus area, Schirmer test results, or TBUT. The OSDI correlated with the MGD grade (R = 0.651, p < 0.001), TBUT (R = −0.360, p = 0.001), and age (R = −0.230, p = 0.037). Using multiple regression analyses, the MGD grade affected the OSDI (β = 0.580, p < 0.001) and the Oxford grade significantly influenced the SPEED (β = 0.447, p < 0.001).CONCLUSIONS: In Koreans, the OSDI questionnaire answers were associated with the MGD grade and SPEED questionnaire answers were associated with the corneal surface status. The OSDI questionnaire was therefore clinically useful in patients with meibomian gland dysfunction.
Blepharitis ; Cornea ; Dry Eye Syndromes ; Fluorescence ; Humans ; Meibomian Glands ; Tears ; Tomography, Optical Coherence