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1.
Korean J Ophthalmol ; 2024 Jul 03.
Article in English | MEDLINE | ID: mdl-38956746

ABSTRACT

Purpose: Strabismus in patients with craniosynostosis is common, but surgical correction of strabismus in these patients remains challenging. We report our findings in 6 patients (4 of whom were Korean) with craniosynostosis who underwent strabismus surgery to specifically address V-pattern horizontal strabismus with moderate-to-severe inferior oblique (IO) overaction, using IO myectomy at a single tertiary hospital between 2005 and 2016. Materials and. Methods: We recorded preoperative characteristics including sex, age, type of strabismus, versions grading, refractive error, and visual acuity. The grading of cyclorotation of horizontal rectus muscles by V-pattern categorized using coronal computed tomography (CT) imaging. Results: Of the six patients, exodeviation was found in four patients and vertical deviation in two patients in primary position. One patient had both horizontal and vertical strabismus. Available computed tomography imaging showed that V-patterns were category 1 (mild) in 2 patients, category 2 (moderate) in 1 patient, and category 3 (severe) in 2 patients. Complete success was defined as absence of IO overaction any more. Overall complete success rate of IO myectomy was 83.3 %. Conclusion: IO myectomy appeared to have some benefits in V-pattern horizontal strabismus with moderate-to-severe inferior oblique (IO) overaction in patients with craniosynostosis.

2.
Neurol Sci ; 45(3): 1173-1183, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37853292

ABSTRACT

PURPOSE: To investigate the rate of development of symptomatic central nervous system (CNS) demyelinating attacks or recurrent optic neuritis (ON) after the first episode of ON and its risk factors for Korean pediatric patients. METHODS: This multicenter retrospective cohort study included the patients under 18 years of age (n=132) diagnosed with ON without previous or simultaneous CNS demyelinating diseases. We obtained the clinical data including the results of neuro-ophthalmological examinations, magnetic resonance images (MRIs), antibody assays, and laboratory tests. We investigated the chronological course of demyelinating disease with respect to the occurrence of neurological symptoms and/or signs, and calculated the 5-year cumulative probability of CNS demyelinating disease or ON recurrence.  RESULTS: During the follow-up period (63.1±46.7 months), 18 patients had experienced other CNS demyelinating attacks, and the 5-year cumulative probability was 14.0±3.6%. Involvement of the extraorbital optic nerve or optic chiasm and asymptomatic lesions on the brain or spinal MRI at initial presentation were significant predictors for CNS demyelinating attack after the first ON. The 5-year cumulative probability of CNS demyelinating attack was 44.4 ± 24.8% in the AQP4-IgG group, 26.2±11.4% in the MOG-IgG group, and 8.7±5.9% in the double-negative group (P=0.416). Thirty-two patients had experienced a recurrence of ON, and the 5-year cumulative probability was 24.6±4.0%. In the AQP4-IgG group, the 5-year cumulative probability was 83.3±15.2%, which was significantly higher than in the other groups (P<0.001). CONCLUSIONS: A careful and multidisciplinary approach including brain/spinal imaging and antibody assay can help predict further demyelinating attacks in pediatric ON patients.


Subject(s)
Demyelinating Diseases , Neuromyelitis Optica , Optic Neuritis , Humans , Child , Adolescent , Retrospective Studies , Myelin-Oligodendrocyte Glycoprotein , Optic Neuritis/diagnostic imaging , Optic Neuritis/epidemiology , Brain/metabolism , Autoantibodies , Immunoglobulin G , Republic of Korea/epidemiology , Demyelinating Diseases/diagnostic imaging , Demyelinating Diseases/epidemiology , Aquaporin 4
3.
BMC Ophthalmol ; 23(1): 510, 2023 Dec 14.
Article in English | MEDLINE | ID: mdl-38098018

ABSTRACT

BACKGROUND: This study evaluate the efficacy of part-time patching in preventing recurrence after bilateral lateral rectus recession (BLR) in patients with intermittent exotropia (IXT). METHODS: A total of 190 children aged 3-13 years who experienced recurrence after BLR for IXT and received part-time patching were retrospectively reviewed. The patching was prescribed for 2 h per day for more than 6 months. Patients who had a recurrence of 18 PD or more underwent reoperation. Changes in exodeviation and reoperation ratio after part-time patching were analyzed. RESULTS: A total of 34 patients (17.9%) received reoperation after part-time patching, and the reoperation ratio after 2 years was 20.3% as per the Kaplan-Meier survival analysis. Patients with a recurrence of 7 to 10 PD showed a significantly better effect compared to those with a recurrence of more than 10 PD (p < 0.001), and the reoperation ratio was also lower in the survival analysis (p = 0.004). The factor associated with reoperation in patients with part-time patching was the duration between the operation and the initiation of part-time patching (hazard ratio [HR] = 1.006, p = 0.002). CONCLUSIONS: Part-time patching was effective in maintaining the efficacy of surgery and delaying the need of reoperation after BLR. This effect was better in patients with a recurrence of ≤ 10 PD.


Subject(s)
Exotropia , Child , Humans , Follow-Up Studies , Treatment Outcome , Exotropia/surgery , Exotropia/etiology , Retrospective Studies , Vision, Binocular , Ophthalmologic Surgical Procedures , Oculomotor Muscles/surgery , Chronic Disease , Recurrence
4.
Invest Ophthalmol Vis Sci ; 64(14): 37, 2023 Nov 01.
Article in English | MEDLINE | ID: mdl-38010696

ABSTRACT

Purpose: To evaluate the association of COVID-19 infection and vaccination with neuro-ophthalmic adverse events. Methods: In this nationwide population-based retrospective cohort study, 8,498,353 patients were classified into three groups: control, COVID-19 infection, and COVID-19 vaccination. We conducted separate analyses for the early phase (within 60 days) and late phases (61-180 days) to estimate the incidence rates and hazard ratio (HR) for each neuro-ophthalmic adverse event. The adverse events included in this analysis were optic neuritis, papilledema, ischemic optic neuropathy, third nerve palsy, fourth nerve palsy, sixth nerve palsy, facial palsy, nystagmus, ptosis, blepharospasm, anomalies of pupillary function, and Guillain-Barré syndrome/Miller Fisher syndrome (GBS/MFS). Results: Neuro-ophthalmic adverse events other than ptosis and GBS/MFS exhibited no significant increase after COVID-19, and their incidence was extremely low. The incidence rate of ptosis in both phases was significantly higher in patients administered COVID-19 vaccination (HR = 1.65 in the early phase and HR = 2.02 in the late phase) than in the control group. Additionally, BNT162b2 conferred a lower ptosis risk than ChAdOx1. GBS/MFS had a significantly higher incidence rate in the early phase (HR = 5.97) in patients with COVID-19 infection than in the control group. Conclusions: Ptosis was associated with COVID-19 vaccination, particularly with the ChAdOx1 vaccine, while GBS/MFS was associated with COVID-19 infection. In contrast, no association was found between other neuro-ophthalmic adverse events and COVID-19 infection or vaccination. These results may provide helpful insights for diagnosing and treating the neuro-ophthalmological adverse events after COVID-19.


Subject(s)
COVID-19 Vaccines , COVID-19 , Vaccines , Humans , BNT162 Vaccine , Cohort Studies , COVID-19/epidemiology , COVID-19/prevention & control , COVID-19 Vaccines/adverse effects , Retrospective Studies
5.
Sci Rep ; 13(1): 7200, 2023 05 03.
Article in English | MEDLINE | ID: mdl-37137972

ABSTRACT

Although several studies have reported about the relationship between the surgical correction of intermittent exotropia and myopic progression, it remains unclear, unlike the relationship between esotropia and hyperopia. Thus, this retrospective case control study evaluated the impact of bilateral lateral rectus recession in intermittent exotropia on myopic progression. This study included 388 patients with intermittent exotropia. The refractive errors and degree of exodeviation at each follow up period were analyzed. The rate of myopic progression was -0.46 ± 0.62 diopter (D)/year in patients who underwent surgery and -0.58 ± 0.78 D/year in patients who did not, with no significant difference between them (p = 0.254). Patients who had recurrences of more than 10 prism diopters were compared with patients who did not have. The rate of myopic progression was -0.57 ± 0.72 D/year in the recurrent group and -0.44 ± 0.61 D/year in the non-recurrent group, with no significant difference between them (p = 0.237). Patients with fast myopic progression had more recurrence than patients with slow progression (p = 0.042). Moreover, recurrence had a positive correlation with fast myopic progression (OR = 2.537, p = 0.021). Conclusively, the surgical correction of intermittent exotropia did not influence myopic progression.


Subject(s)
Exotropia , Myopia , Humans , Child , Exotropia/surgery , Retrospective Studies , Case-Control Studies , Treatment Outcome , Follow-Up Studies , Ophthalmologic Surgical Procedures , Oculomotor Muscles/surgery , Chronic Disease , Myopia/surgery , Vision, Binocular/physiology
7.
Sci Rep ; 13(1): 1329, 2023 01 24.
Article in English | MEDLINE | ID: mdl-36693891

ABSTRACT

The Korean Intermittent Exotropia Multicenter Study (KIEMS) was a retrospective, cross-sectional and multicenter study for the investigation of intermittent exotropia involved 65 strabismus specialists from 53 institutions in Korea. Purpose of this study was to present ophthalmologic findings of intermittent exotropia from the KIEMS. Consecutive patients with intermittent exotropia of ≥ 8 prism diopters (PD) at distance or near fixation were included. Best-corrected visual acuity, cycloplegic refraction data, angles of deviation at several cardinal positions, ocular dominance, fusion control, oblique muscle function, and binocular sensory outcomes were collected. A total of 5385 participants (2793 females; age 8.2 years) were included. Non-dominant eye was more myopic than the dominant eye (- 0.60 vs. - 0.47 diopters, P < 0.001). Mean exodeviation angles were 23.5 PD at distance and 25.0 PD at near fixation. Basic type (86.2%) was the most, followed by convergence insufficiency (9.4%) and divergence excess (4.4%) types. Alternating ocular dominance and good fusion control were more common at near than at distance fixation. Good stereopsis at 40 cm was observed in 49.3% in Titmus stereo test (≤ 60 arcsec) and in 71.0% in Randot stereo test (≤ 63 arcsec). Intermittent exotropia was mostly diagnosed in childhood and patients with the condition showed relatively good binocular functions. This study may provide objective findings of intermittent exotropia in a most reliable way, given that the study included a large study population and investigated comprehensive ophthalmology examinations.


Subject(s)
Exotropia , Ophthalmology , Female , Humans , Child , Exotropia/surgery , Cross-Sectional Studies , Retrospective Studies , East Asian People , Ophthalmologic Surgical Procedures , Vision, Binocular/physiology
8.
Ophthalmic Genet ; 44(3): 286-290, 2023 06.
Article in English | MEDLINE | ID: mdl-35946466

ABSTRACT

BACKGROUND: Single-stranded DNA-binding protein 1 (SSBP1) plays an essential role in mitochondrial DNA (mtDNA) replication and maintenance, as well as development of retina. Here, we describe the clinical findings and genetic basis of a family with two members affected with bilateral optic atrophy. MATERIALS AND METHODS: Clinical data were retrospectively collected from an electronic medical record system. Genetic results were obtained using exome sequencing (ES) and genome sequencing (GS). RESULTS: A 36-year-old man presented with low vision in both eyes since early childhood, with a best-corrected visual acuity of 20/500 in both eyes. He exhibited generalized optic atrophy and diffuse retinal nerve fiber layer thinning without retinal degeneration in both eyes. The family history was consistent with autosomal dominant traits. ES was performed; however, we did not identify any pathogenic variants in the known dominant optic atrophy genes. Subsequently, GS was performed, and it revealed a novel heterozygous c.364A>G p.(Lys122Glu) variant in SSBP1. In silico prediction supported it as deleterious, while segregation analysis detected it in his affected mother and his unaffected sister. No foveopathy or retinal degeneration was observed in the patient's family members. CONCLUSIONS: We report a novel pathogenic heterozygous SSBP1 variant in a family with autosomal dominant optic atrophy and incomplete penetrance. Furthermore, we demonstrated that GS is advantageous over ES even for the discovery of coding variants, providing uniform coverage. Therefore, GS should be emphasized to improve the molecular diagnostic rate of inherited optic neuropathy.


Subject(s)
Optic Atrophy, Autosomal Dominant , Optic Atrophy , Retinal Degeneration , Child, Preschool , Male , Humans , Adult , Retinal Degeneration/diagnosis , Retinal Degeneration/genetics , Exome Sequencing , Retrospective Studies , Optic Atrophy, Autosomal Dominant/pathology , DNA-Binding Proteins/genetics , Optic Atrophy/genetics , DNA, Mitochondrial/genetics , Mitochondrial Proteins/genetics
9.
J Ocul Pharmacol Ther ; 38(10): 703-708, 2022 12.
Article in English | MEDLINE | ID: mdl-36269657

ABSTRACT

Purpose: To evaluate the longitudinal changes of axial length (AL) and factors associated with AL growth in myopic children receiving 0.05% atropine. Methods: This single-center retrospective study included children aged 4-13 years with myopia of at least -0.5 diopters (D) treated with 0.05% atropine eye drops from November 2016 to May 2021. Predictive factors for AL change were evaluated using linear mixed models. Results: Among 109 patients (218 eyes), 58 (53.2%) were male and the mean age at treatment was 8.5 ± 2.0 years. At baseline measurement, the mean spherical equivalent was -4.05 ± 2.34 diopters (D), and AL was 25.00 ± 0.97 mm. The mean follow-up duration was 25.4 (12-58) months, and the mean AL elongation was 0.23 ± 0.17 mm/year during the follow-up periods. AL shortening of ≥0.05 mm at subsequent visit occurred in 18 patients (26 eyes). The mean AL change in the group without initial AL shortening was statistically larger than that in the group with initial AL shortening (0.26 ± 0.16 mm/year vs. 0.02 ± 0.17 mm/year, P < 0.001). In linear mixed model, the age at atropine treatment and initial AL shortening were significantly associated with respect to AL growth (beta coefficient: -0.032 and -0.122, respectively, P < 0.001 for both). Conclusions: Our study found that older age and initial AL shortening are predictors of favorable response after 0.05% atropine treatment. Children with AL shortening at initial subsequent visit may be associated with good long-term response, and younger children may require higher concentration of atropine for optimal response.


Subject(s)
Atropine , Child , Female , Humans , Male , Atropine/therapeutic use , Retrospective Studies
10.
Front Neurol ; 13: 978532, 2022.
Article in English | MEDLINE | ID: mdl-36071901

ABSTRACT

Aims: To evaluate the clinical characteristics and causative genetic variants in autosomal optic atrophy diagnosed using next-generation sequencing (NGS). Methods: A cohort of 57 unrelated families affected with bilateral optic atrophy were recruited from two university-based tertiary referral hospitals from May 2016 to April 2022. Genetic variants were detected using a target enrichment panel consisting of 429 or 595 genes and known deep intronic variants associated with inherited eye diseases, exome sequencing, or genome sequencing. The results of detailed clinical examinations, disease-causing variants, and clinical diagnoses were analyzed. Results: Among the 57 probands, 33 (57.9%) were men, and the median age at genetic testing was 19.1 years (interquartile range, 7.6-42.5 years). We identified 22 likely causative variants in 18 families and corresponding diagnostic yields of 31.6% (95% confidence interval, 21.0-44.5%). The diagnostic rate of NGS was higher in patients with infantile or early childhood onset optic atrophy than in those with late-onset or unknown optic atrophy (18/39, 46.2% vs. 0/18, 0%, P < 0.001). Among the 22 variants, 15 were novel in our cohort. The OPA1 variants (n = 7) were found to be the major genetic causes, followed by the NR2F1 variant (n = 4). The causative variants in PTPN23, TMEM126A, NBAS, and WFS1 genes were identified in 4 probands with a recessive form of optic atrophy. Conclusions: Based on the results of diagnostic NGS for optic atrophy, the causative variant could be detected in 31.6% of patients. Our study also demonstrated that NGS is unlikely to help identify molecular causes in late-onset unexplained optic atrophy.

11.
J Ophthalmol ; 2022: 4281772, 2022.
Article in English | MEDLINE | ID: mdl-36119139

ABSTRACT

Purpose: To analyze the clinical characteristics and prognosis of optic neuritis (ON) in pediatric patients aged <19 years in South Korea. Methods: This multicenter retrospective cohort study included 127 pediatric patients (median age: 10.3 (IQR: 7.3-14.2) years; female, 62.2%) who experienced ON for the first time between January 2004 and January 2018, with data obtained from five tertiary university-based hospitals in Korea. When ON was bilateral, the worse eye was selected for analysis. The baseline clinical characteristics and prognoses of patients, as well as the associations between these parameters, were analyzed. Results: The baseline clinical characteristics of the patients were as follows: best-corrected visual acuity (BCVA) < 20/200, 65.9%; pain on eye movement, 47.2%; optic disc swelling, 66.9%; and bilateral involvement, 41.7%. Among 101 patients who were followed up for ≥6 months, 48 (47.5%), 12 (11.9%), 19 (18.8%), 13 (12.9%), and 9 (8.9%) had been diagnosed with isolated ON, recurrent ON, multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and acute disseminated encephalomyelitis (ADEM)-related ON, respectively. At the latest visit, 81.9% and 71.1% had achieved BCVA of ≥20/40 and ≥ 20/25, respectively. Only disc swelling at presentation was associated with poor baseline BCVA (coefficient: 0.31, P=0.004) and greater improvement in BCVA (coefficient: 0.49, P = 0.001P=0.001); there were no significant associations between the baseline factors and final BCVA. Conclusions: This study demonstrated pediatric ON-related clinical characteristics and visual outcomes in South Korea. Within this cohort, in about 40.6% of patients, ON was associated with other demyelinating diseases, namely, MS, NMOSD, and ADEM.

13.
Genes (Basel) ; 12(4)2021 04 15.
Article in English | MEDLINE | ID: mdl-33921132

ABSTRACT

Variants in the TUBB3 gene, one of the tubulin-encoding genes, are known to cause congenital fibrosis of the extraocular muscles type 3 and/or malformations of cortical development. Herein, we report a case of a 6-month-old infant with c.967A>G:p.(M323V) variant in the TUBB3 gene, who had only infantile nystagmus without other ophthalmological abnormalities. Subsequent brain magnetic resonance imaging (MRI) revealed cortical dysplasia. Neurological examinations did not reveal gross or fine motor delay, which are inconsistent with the clinical characteristics of patients with the M323V syndrome reported so far. A protein modeling showed that the M323V mutation in the TUBB3 gene interferes with αß heterodimer formation with the TUBA1A gene. This report emphasizes the importance of considering TUBB3 and TUBA1A tubulinopathy in infantile nystagmus. A brain MRI should also be considered for these patients, although in the absence of other neurologic signs or symptoms.


Subject(s)
Amino Acid Substitution , Malformations of Cortical Development/diagnostic imaging , Nystagmus, Congenital/diagnostic imaging , Tubulin/genetics , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Malformations of Cortical Development/genetics , Nystagmus, Congenital/genetics , Pedigree , Phenotype , Tubulin/metabolism
15.
Medicine (Baltimore) ; 99(36): e21401, 2020 Sep 04.
Article in English | MEDLINE | ID: mdl-32898992

ABSTRACT

To compare the surgical outcomes of medial rectus advancement and lateral rectus recession in postoperative consecutive exotropia with single-stage adjustable suture surgery.Among 1003 patients who underwent bilateral medial rectus recession between November 1996 and March 2013, the patients who required surgery for consecutive exotopia were retrospectively reviewed. Nineteen patients underwent medial rectus advancement and 15 patients underwent lateral rectus recession. All patients underwent single-stage adjustable surgery under topical anesthesia and were followed up for at least 12 months.The mean follow-up duration was 2.4 years. At final follow-up, a successful surgical outcome was found in 12 patients (63.0%) in the medial rectus advancement group and 14 patients (93.3%) in the lateral rectus recession group (P = .039). The change in ocular deviation was correlated with the amount of recession (P = .008) and preoperative angle (P < .001) in the lateral rectus recession group.Lateral rectus recession showed a higher success rate with predictable and easily performed procedure than medial rectus advancement for the treatment of postoperative consecutive exotropia with adjustable suture.


Subject(s)
Exotropia/surgery , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures/methods , Postoperative Complications/surgery , Adolescent , Child , Exotropia/etiology , Female , Humans , Male , Ophthalmologic Surgical Procedures/adverse effects , Postoperative Period , Reoperation , Retrospective Studies , Treatment Outcome
16.
Korean J Ophthalmol ; 34(3): 227-234, 2020 06.
Article in English | MEDLINE | ID: mdl-32495531

ABSTRACT

PURPOSE: To compare refractive error measured by hand-held wavefront aberrometers with postcycloplegic autorefraction (AR) and cycloplegic refraction (CR). METHODS: The medical records of patients who received refractive measurements using the wavefront aberrometer, postcycloplegic AR, and CR between January 2014 and January 2016 were retrospectively analyzed. The mean differences, 95% confidence intervals, and limits of agreement (LOA) were calculated for the refractive vector components (M, J0, and J45 ). RESULTS: Fifty-one patients (9.0 ± 5.5 years, male 41.2%) were enrolled in this study, and only the right eye of each was included. Refractive errors ranged from -9.25 to +7.25 diopters (D) for spherical equivalent (median, 0.75 D). The M component was not significantly different among the three methods (p = 0.080). However, the J0 vector component was significantly different (p < 0.001). After post hoc analysis, the wavefront aberrometer obtained more positive values for J0 compared to the other methods. The J45 component was not significantly different among the three methods (p = 0.143). The mean difference between the wavefront aberrometer and postcycloplegic AR was -0.115 D (LOA, -1.578 to 1.348 D) for M, 0.239 D (LOA, -0.371 to 0.850 D) for J0, and -0.015 D (LOA, -0.768 to 0.738 D) for J45 . The mean difference between the wavefront aberrometer and CR was -0.220 D (LOA, -1.790 to 1.350 D) for M, 0.300 D (LOA, -0.526 to 1.127 D) for J0, and -0.079 D (-0.662 to 0.504 D) for J45 . CONCLUSIONS: The wavefront aberrometer showed good agreement with postcycloplegic AR and CR in spherical equivalents, but tended to produce slightly myopic results. The wavefront aberrometer also overestimated with-the-rule astigmatism. Therefore, we recommend that the device be used for estimations of refractive error, which may be useful for patients who have postural difficulties, live in undeveloped countries, or are bedridden.


Subject(s)
Aberrometry/instrumentation , Refraction, Ocular/physiology , Refractive Errors/diagnosis , Child , Equipment Design , Female , Humans , Male , Refractive Errors/physiopathology , Reproducibility of Results , Retrospective Studies
17.
Mol Vis ; 26: 26-35, 2020.
Article in English | MEDLINE | ID: mdl-32165824

ABSTRACT

Purpose: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype-phenotype correlation in a Korean cohort. Methods: This single-center retrospective case series included 50 Korean patients with LCA between June 2015 and March 2019. Molecular analysis was conducted using targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing. The molecular diagnosis was made based on the inheritance pattern, zygosity, and pathogenicity. Results: Among the 50 patients, 27 patients (54%) were male, and 11 (22%) showed systemic features. Genetic variants highly likely to be causative were identified in 78% (39/50) of cases and segregated into families. We detected two pathogenic or likely pathogenic variants in a gene linked to a recessive trait without segregation analysis in three cases (6.0%). GUCY2D (20%), NMNAT1 (18%), and CEP290 (16%) were the most frequently mutated genes in Korean LCA. Copy number variations were found in three patients, which accounted for 6% of LCA cases. A possible dual molecular diagnosis (Senior-Løken syndrome along with Leigh syndrome, and Joubert syndrome with transposition of the great arteries) was made in two patients (4%). Three of 50 patients were medically or surgically actionable: one patient for RPE65 gene therapy and two patients with WDR19 Senior-Løken syndrome for early preparation for kidney and liver transplantations. Conclusions: This study demonstrated that approximately 4% of patients may have dual molecular diagnoses, and 6% were surgically or medically actionable in LCA. Therefore, accurate molecular diagnosis and careful interpretation of next-generation sequencing results can be of great help in patients with LCA.


Subject(s)
Abnormalities, Multiple/genetics , Cerebellum/abnormalities , Ciliopathies/genetics , DNA Copy Number Variations/genetics , Eye Abnormalities/genetics , Kidney Diseases, Cystic/genetics , Leber Congenital Amaurosis/diagnosis , Leber Congenital Amaurosis/genetics , Leigh Disease/genetics , Optic Atrophies, Hereditary/genetics , Retina/abnormalities , Abnormalities, Multiple/diagnosis , Adolescent , Adult , Antigens, Neoplasm/blood , Antigens, Neoplasm/genetics , Cell Cycle Proteins/blood , Cell Cycle Proteins/genetics , Child , Child, Preschool , Ciliopathies/diagnosis , Cytoskeletal Proteins/blood , Cytoskeletal Proteins/genetics , Eye Abnormalities/diagnosis , Female , Genetic Association Studies , Genetic Therapy , Guanylate Cyclase/blood , Guanylate Cyclase/genetics , High-Throughput Nucleotide Sequencing , Humans , Infant , Intracellular Signaling Peptides and Proteins/genetics , Kidney Diseases, Cystic/diagnosis , Leber Congenital Amaurosis/diagnostic imaging , Leber Congenital Amaurosis/therapy , Leigh Disease/diagnosis , Male , Mutation , Nicotinamide-Nucleotide Adenylyltransferase/blood , Nicotinamide-Nucleotide Adenylyltransferase/genetics , Optic Atrophies, Hereditary/diagnosis , Organ Transplantation , Pedigree , Receptors, Cell Surface/blood , Receptors, Cell Surface/genetics , Republic of Korea , Retrospective Studies , Transposition of Great Vessels/genetics , cis-trans-Isomerases/genetics
18.
Graefes Arch Clin Exp Ophthalmol ; 258(2): 445-450, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31741045

ABSTRACT

PURPOSE: To describe characteristics of recurrent intermittent exotropia after bilateral lateral rectus (BLR) recession, and identify factors associated with poor outcome after unilateral medial rectus (MR) resection for recurrent intermittent exotropia. METHODS: We retrospectively reviewed 124 patients who have undergone unilateral MR resection for recurrent intermittent exotropia after BLR recession. Patients were followed for at least 2 years after MR resection. Clinical characteristics and risk factors associated with poor outcome after unilateral MR resection were evaluated. Successful outcome was defined as distant deviation within the range of 4 prism diopters (PD) esotropia and 10 PD exotropia at last visit after MR resection. RESULTS: Among 124 patients, 50 patients (41.1%) were male, and the mean age at the time of MR resection was 9.5 ± 3.1 years. The average follow-up period after MR resection was 43.8 ± 23.7 months. Forty-seven patients (37.9%) were classified to have poor outcome at last visit, and 29 patients (23.4%) underwent third operation. None of the patients was overcorrected after MR resection. Multiple logistic regression analyses showed that distant deviation at post-operative 3 months and male gender were associated with poor outcome (OR 1.49; 95% CI 1.27-1.73; P < 0.001, and OR 5.19; 95% CI 1.42-18.98; P = 0.013, respectively). CONCLUSION: Ocular deviation at 3 months after unilateral MR resection for recurrent intermittent exotropia may play a valuable role in anticipating poor outcome. Patients whose exotropia exceeded 9 PD at distance at 3 months' follow-up tended to recur while those whose exotropia remained below 9 PD at distance showed a stable disease course.


Subject(s)
Exotropia/surgery , Eye Movements/physiology , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures/adverse effects , Postoperative Complications , Refraction, Ocular/physiology , Child , Child, Preschool , Exotropia/physiopathology , Female , Follow-Up Studies , Humans , Male , Oculomotor Muscles/physiopathology , Prognosis , Retrospective Studies
19.
Ophthalmic Genet ; 40(4): 359-361, 2019 08.
Article in English | MEDLINE | ID: mdl-31393201

ABSTRACT

Background: Nuclear hormone receptor gene, NR2F1, plays a key role in brain and eye development. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS, MIM #615772) is an autosomal dominant hereditary disorder caused by mutations in this gene. However, there have been few studies describing fundus and optical coherence tomography findings on BBSOAS. Materials and methods: The patient underwent a detailed clinical evaluation and ophthalmic imaging followed by targeted panel next-generation sequencing analysis. Results: A 7-year-old Korean boy, with a history of delayed development and borderline intellectual functioning, was referred to our clinic for evaluation of low vision. He was born full-term with no perinatal insults. Best-corrected visual acuity was 20/100 in both eyes, and latent nystagmus was noted. Dilated fundus examinations revealed optic atrophy in both eyes, and optical coherence tomography showed diffuse thinning of retinal nerve fiber layers. Targeted panel next-generation sequencing showed novel c.513C>G; p.Tyr171Ter (NM_005654.4) in NR2F1 gene. This stop-gain mutation was predicted to be deleterious by in silico prediction programs, and was absent in the current population genomic database. Conclusions: We highlighted the value of genetic testing in definite diagnosis of BBSOAS in patients with unexplained optic atrophy.


Subject(s)
COUP Transcription Factor I/genetics , Developmental Disabilities/diagnosis , High-Throughput Nucleotide Sequencing/methods , Intellectual Disability/diagnosis , Mutation , Optic Atrophy/diagnosis , Vision, Low/diagnosis , Child , Developmental Disabilities/genetics , Genetic Testing , Humans , Intellectual Disability/genetics , Male , Optic Atrophy/genetics , Prognosis , Vision, Low/genetics
20.
Korean J Ophthalmol ; 33(3): 272-278, 2019 Jun.
Article in English | MEDLINE | ID: mdl-31179659

ABSTRACT

PURPOSE: To compare long-term refractive outcomes associated with intravitreal anti-vascular endothelial growth factor (VEGF) versus laser photocoagulation treatment for retinopathy of prematurity (ROP). METHODS: A total of 52 eyes from 27 ROP patients treated at two tertiary referral-based hospitals from August 2006 to December 2013 were reviewed. The primary outcome was refractive error measured at the age of 4 years, accounting for within-patient inter-eye correlation. Secondary outcomes included the recurrence rate and treatment complications. RESULTS: The mean age at refraction was 4.7 ± 0.3 years in the laser group (n = 30) and 4.4 ± 0.3 years in the anti-VEGF group (n = 22). No significant differences were noted in gestational age, birthweight, post-menstrual age at treatment, or ROP stage/zone distribution between groups. Mean spherical equivalent was also not significantly different (-1.0 diopters in the laser group and -0.3 diopters in the injection group, p = 0.603). Clustered regression analysis revealed that only gestational age was significantly correlated with mean spherical equivalent (p < 0.001; 95% confidence interval, -0.007 to -0.002). Recurrence was noted in four eyes (13.3%) in the laser group, but this difference was not significant (p = 0.128). There were no major systemic complications reported in either group. CONCLUSIONS: Treatment type, whether laser or anti-VEGF injection, does not appear to influence long-term refractive outcomes in ROP. Concern regarding refractive outcomes should not be the most important factor when selecting ROP treatment modality.


Subject(s)
Bevacizumab/administration & dosage , Laser Coagulation/methods , Ranibizumab/administration & dosage , Refraction, Ocular/physiology , Retinopathy of Prematurity/therapy , Angiogenesis Inhibitors/administration & dosage , Child, Preschool , Female , Follow-Up Studies , Humans , Intravitreal Injections , Male , Ophthalmoscopy , Retinopathy of Prematurity/diagnosis , Retinopathy of Prematurity/physiopathology , Retrospective Studies , Time Factors , Treatment Outcome , Vascular Endothelial Growth Factor A/antagonists & inhibitors , Vision Tests
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