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1.
Ophthalmic Physiol Opt ; 43(2): 212-219, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36504165

RESUMEN

PURPOSE: To evaluate the diagnostic performance of the Welch Allyn Spot Vision photoscreener in preschool children for detecting exotropia, the most prevalent type of strabismus among Asian children. METHODS: Children aged 3-6 years were screened using the Spot Vision photoscreener and then underwent a complete ophthalmologic examination on the same day. A child with exodeviation ≥8 Δ in the primary position using the cover-uncover test and the alternate prism cover test was confirmed to have exotropia. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of the photoscreener in detecting exotropia were calculated. Subgroup analyses were performed according to the angle of deviation (≥25 Δ vs. <25 Δ) and fusional control (good/fair vs. poor). RESULTS: Two hundred and ten children were included in this study. Among 80 exotropia-confirmed children, 23 needed referrals for exodeviation (screening-positive) and 57 were proven to be screening-negatives with the photoscreener. The overall sensitivity, specificity, PPV and NPV of the photoscreener for detecting exotropia were 28.8%, 95.4%, 79.3% and 68.5%, respectively. The positive and negative likelihood ratios were 6.26 and 0.75, respectively. Compared with the 57 children with false-negatives (71.3%), those with true-positive results with the photoscreener had significantly larger angles of exodeviation (p = 0.02) and a higher proportion of poor fusional control (p = 0.004). The photoscreener had low sensitivity even in detecting exotropia ≥25 Δ or those with poor fusional control (35.2% and 43.6%, respectively). Approximately 65% (42 out of 64) of the children with a significant exodeviation which needed strabismus surgery were not identified by the Spot Vision Photoscreener. CONCLUSIONS: The Spot Vision photoscreener has low sensitivity for detecting exodeviation. It should not be used alone for assessing exotropia in preschool-aged children.


Asunto(s)
Exotropía , Estrabismo , Humanos , Preescolar , Exotropía/diagnóstico , Estrabismo/diagnóstico , Valor Predictivo de las Pruebas , Músculos Oculomotores , Derivación y Consulta , Visión Binocular , Estudios Retrospectivos
2.
Graefes Arch Clin Exp Ophthalmol ; 259(11): 3453-3459, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34142187

RESUMEN

BACKGROUND: Enlarged optic disc cupping and interocular cup-to-disc ratio (CDR) asymmetry are often important indicators of glaucoma. Clinically, we occasionally encounter children with large CDR and interocular CDR asymmetry during vision screening. This study aimed to report longitudinal change of ocular parameters in children with large cup-to-disc ratio (CDR) and interocular CDR asymmetry. METHODS: This was a retrospective, observational case series of 160 eyes of 160 children with large CDR who visited a tertiary eye center from January 2010 to June 2016. Average CDR ≥ 0.6 were considered large CDR values, and CDR asymmetry was defined as an interocular difference ratio value greater than 0.2. All included patients showed interocular pressure (IOP) < 21 mmHg at least three ophthalmic examinations conducted at total intervals of at least 30 months. RESULTS: The mean age of children included in the study was 7.14 ± 2.42 years, with a follow-up period of 54.46 ± 19.82 months. Changes in refractive error and axial length were significantly different between initial and final examination (p < 0.001). However, optic nerve head (ONH) analysis and retinal nerve fiber layer (RNFL) and macular ganglion cell-inner plexiform layer (mGCIPL) thicknesses were not significantly different between initial and final examination. In interocular comparisons of patients with CDR asymmetry, changes of refractive error, axial length, ONH analysis, and RNFL and mGCIPL thickness were not significantly different between the two eyes. CONCLUSIONS: There were no significant differences in the changes of ONH analysis, and RNFL and mGCIPL thicknesses in children with large CDR, or those with interocular CDR asymmetry over the study period. Our results provide helpful information for the establishment of guidelines for managing children with large CDR and interocular CDR asymmetry.


Asunto(s)
Glaucoma , Disco Óptico , Niño , Preescolar , Humanos , Fibras Nerviosas , Células Ganglionares de la Retina , Tomografía de Coherencia Óptica
3.
Graefes Arch Clin Exp Ophthalmol ; 258(10): 2283-2290, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32506279

RESUMEN

PURPOSE: We sought to identify the phenotypic and genotypic characteristics of Korean children with genetically confirmed Leber's hereditary optic neuropathy (LHON). METHODS: The medical records of 64 genetically confirmed LHON patients were reviewed. Seventeen patients aged 13 years or younger with optic atrophy with positive mitochondrial DNA (mtDNA) mutations were considered to demonstrate childhood-onset LHON. The non-childhood-onset group included 47 patients with genetically confirmed LHON who experienced disease onset later than 13 years of age. The type of mtDNA mutation, visual acuity (VA), color vision, fundus photography, retinal nerve fiber layer (RNFL) thickness, and visual field were investigated. RESULTS: Sequence analysis of the mitochondrial genome revealed five different kinds of LHON-associated mtDNA mutations among our childhood-onset patients, including m.11778G>A (58.8%), m.3496G>T (11.8%), m.3497C>T (5.9%), m.11696G>A (5.9%), and m.14502T>C (5.9%). The mean final best-corrected VA in the childhood-onset group was better than that in the non-childhood-onset group with the value of logMAR 0.29 (0.09-0.75) vs. 0.55 (0.27-1.29) (expressed as median (interquartile range); p = 0.05). Spontaneous visual recovery was observed in 35.3% of the childhood-onset group but in only 12.8% of the non-childhood-onset group (p = 0.04). Eight patients (47.1%) showed interocular asymmetry of the disease, with two presenting true unilateral involvement of the optic nerve and the other six patients demonstrating unilateral subclinical manifestations with bilateral optic atrophy. CONCLUSION: Involvement of secondary mitochondrial mutations was confirmed in patients with childhood-onset LHON. Characteristic clinical features of childhood-onset LHON included a higher proportion of subacute or insidious onset of symptoms, better VA, higher spontaneous recovery, and asymmetrical ocular involvement.


Asunto(s)
Atrofia Óptica Hereditaria de Leber , ADN Mitocondrial/genética , Humanos , Mutación , Atrofia Óptica Hereditaria de Leber/diagnóstico , Atrofia Óptica Hereditaria de Leber/epidemiología , Atrofia Óptica Hereditaria de Leber/genética , República de Corea/epidemiología , Agudeza Visual , Campos Visuales
4.
Neuroophthalmology ; 44(6): 387-390, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33335345

RESUMEN

Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that leads to acute or subacute, painless, bilateral loss of vision, caused by degeneration of retinal ganglion cells that most affects men in their second or third decade of life. We describe a woman with compressive optic neuropathy with a concurrent LHON-associated mitochondrial mutation. Temporal hemifield defect connected to central scotoma and concurrent abduction limitation are diagnostic clues in identifying chiasmal compression with craniopharyngioma. This case emphasizes an awareness of the possible coexistence of compressive and hereditary optic neuropathy.

5.
Optom Vis Sci ; 94(4): 476-481, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-28009792

RESUMEN

PURPOSE: To describe clinical features in children diagnosed with posterior polymorphous corneal dystrophy (PPCD) in their first or second decade of life. METHODS: A retrospective study was performed with the medical records of seven unrelated Korean pediatric patients who were diagnosed with PPCD and were followed up for a minimum of 3 years. Thorough ocular examinations were performed, including best-corrected visual acuity, intraocular pressure, refractive and keratometric measurements, slit-lamp biomicroscopy, and specular microscopy at all visits. RESULTS: Slit-lamp examinations revealed vesicular lesions in one patient and horizontally parallel band-like endothelial lesions in six patients. Unilateral corneal involvement was displayed in 4 patients, yielding 10 eyes with deep corneal features characteristic of PPCD. Other corneal, iris, or fundus pathologic findings were not detected in all cases. Among four children who were examined in their visual development (approximately under 8 years of age), two cases demonstrated unilateral amblyopia at initial examination and exhibited improved visual acuity after refractive correction and occlusion therapy. Astigmatism more than 1.5D, which is generally considered amblyogenic, was found in 8 among 10 PPCD-affected eyes. A final visual acuity of more than 20/32 was achieved with appropriate refractive correction in all PPCD-affected eyes. There was a negative correlation between the corneal astigmatism and the mean endothelial cell density (ECD) (r = -0.655, P = .011). Initial specular microscopic examinations revealed reduced ECD (1733.0 ± 543.9 cells/mm) composed of enlarged cells (average cell area, 624.8 ± 182.1 µm/cell) in PPCD-affected eyes, compared with those in PPCD-unaffected eyes from our study subjects (P < .001 and P = .005, respectively). A statistically significant percent loss in ECD from initial to 3 years was noted in the PPCD-affected eyes (P = .03). CONCLUSIONS: The awareness and treatment of refractive error are important, especially in children with early-onset PPCD during the reversible period of amblyopia. Long-term monitoring of corneal endothelium is required in pediatric patients with early-onset PPCD based on a significant endothelial loss over 3 years in PPCD-affected eyes.


Asunto(s)
Distrofias Hereditarias de la Córnea/diagnóstico , Adolescente , Astigmatismo/patología , Recuento de Células , Niño , Preescolar , Distrofias Hereditarias de la Córnea/fisiopatología , Endotelio Corneal/patología , Femenino , Humanos , Presión Intraocular/fisiología , Masculino , Estudios Retrospectivos , Lámpara de Hendidura , Pruebas de Visión , Agudeza Visual/fisiología
6.
Graefes Arch Clin Exp Ophthalmol ; 254(1): 129-33, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26608581

RESUMEN

PURPOSE: We aimed to compare clinical characteristics between diplopia-free and diplopia-persistent patients after successful strabismus surgery, when patients complained of diplopia following secondary intraocular lens (IOL) implantation after prolonged aphakia accompanied by sensory strabismus. METHODS: Retrospective review of medical records of patients who complained of diplopia following secondary IOL placement with sensory strabismus after prolonged uncorrected monocular aphakia from isolated ocular trauma was done. We classified patients into two groups according to persistency of diplopia, 6 months after successful strabismus surgery. Clinical characteristics were compared between groups. RESULTS: A total of 31 patients were included. The diplopia-persistent group showed longer duration of uncorrected aphakia (p = 0.02), less severe corneal astigmatism (p = 0.04), a smaller exodeviation angle (p = 0.02), and more frequent vertical deviation (p = 0.015), extorsion (p = 0.022) and monocular nystagmus (p = 0.028) than the diplopia-free group. In all patients in the diplopia-free group, diplopia could be eliminated prior to strabismus surgery using loose prisms in free space, whereas seven patients in the diplopia-persistent group prior to surgery could not resolve diplopia. CONCLUSIONS: Our data will be helpful for ocular surgeons in determining whether to insert secondary IOL in prolonged aphakia with sensory strabismus, or whether strabismus surgery will eliminate diplopia that develops following secondary IOL placement in this situation.


Asunto(s)
Afaquia Poscatarata/cirugía , Diplopía/etiología , Implantación de Lentes Intraoculares/efectos adversos , Estrabismo/cirugía , Adulto , Afaquia Poscatarata/etiología , Afaquia Poscatarata/fisiopatología , Diplopía/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculos Oculomotores/cirugía , Estudios Retrospectivos , Factores de Riesgo , Estrabismo/etiología , Estrabismo/fisiopatología , Factores de Tiempo , Visión Monocular/fisiología , Agudeza Visual
7.
BMC Ophthalmol ; 16: 119, 2016 Jul 22.
Artículo en Inglés | MEDLINE | ID: mdl-27449491

RESUMEN

BACKGROUND: Cyclic strabismus is a very rare condition of ocular motility characterized by alternating strabismus and orthotropia. We report a patient with a 48-h cycle of vertical deviation associated with dysthyroid ophthalmopathy that spontaneously resolved. CASE PRESENTATION: A 40-year-old woman experienced sudden onset vertical double vision. She had already been diagnosed with hyperthyroidism. Asymmetric enlargement of the inferior and medial rectus muscles was demonstrated in her left eye on computed tomography, and was compatible with dysthyroid ophthalmopathy. She clearly described the "every-other-day" pattern of diplopia that spontaneously switched around 8 o'clock every night. She exhibited left hypotropia of 35 prism diopters on a bad day, and 7 prism diopters on a good day. CONCLUSIONS: This case illustrates that cyclic vertical deviation may spontaneously resolve along with the course of the underlying diseases that initiated the cyclic deviation, especially in patients with conditions involving motor component changes such as dysthyroid ophthalmopathy.


Asunto(s)
Oftalmopatía de Graves/etiología , Adulto , Femenino , Humanos , Periodicidad , Remisión Espontánea , Estrabismo/etiología , Trastornos de la Visión/etiología
8.
BMC Ophthalmol ; 16(1): 177, 2016 Oct 08.
Artículo en Inglés | MEDLINE | ID: mdl-27717339

RESUMEN

BACKGROUND: We examined the effect of surgical repair on the pattern of refractive errors in Korean patients with congenital blepharoptosis. METHODS: We reviewed the clinical records of 54 patients with congenital blepharoptosis who attended our hospital from 2006 to 2012 and underwent a detailed refractive examination before and after ptosis repair surgery. Among them, 21 of the patients whose refractive data was available for both before and after the surgery were included in order to observe the effect of ptosis repair surgery on refractive error characteristics. The astigmatism groups were divided into three subgroups: with-the-rule (WTR), against-the-rule (ATR), and oblique astigmatism (OA). We also evaluated the severity of astigmatism. RESULTS: Before surgery, the ptotic eyes had more severe astigmatism and a greater percentage of OA than the fellow eyes. The changes in astigmatism magnitude before and after surgery were not significant, but the proportion of subjects with OA increased significantly. In ptotic eyes, amblyopia was found in 14 eyes (20.9 %). 3 eyes (4.5 %) were from solely occlusive visual stimulus deprivation due to severe ptosis, and 11 eyes were from refractive errors. Among refractive errors, amblyogenic astigmatism made up to the largest proportion of patients (8 patients, 11.9 %). CONCLUSIONS: Ptotic eyes had more severe astigmatism and more OA than fellow eyes. Amblyogenic astigmatism was more common in ptotic eyes. A change in astigmatism toward the OA axis was significantly detected after surgery, and that can be possible amblyogenic cause. Therefore, the correction of astigmatism before and after ptosis repair surgery is very important to prevent amblyopia.


Asunto(s)
Blefaroptosis/congénito , Blefaroptosis/cirugía , Procedimientos Quirúrgicos Oftalmológicos , Refracción Ocular/fisiología , Errores de Refracción/etiología , Adolescente , Adulto , Astigmatismo/etiología , Astigmatismo/fisiopatología , Blefaroptosis/complicaciones , Blefaroptosis/fisiopatología , Niño , Preescolar , Femenino , Humanos , Masculino , Procedimientos Quirúrgicos Oftalmológicos/efectos adversos , Errores de Refracción/fisiopatología , Pruebas de Visión , Agudeza Visual , Adulto Joven
9.
Mol Vis ; 21: 1201-9, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26604660

RESUMEN

PURPOSE: To identify the underlying genetic defect in Korean patients with macular corneal dystrophy (MCD). METHODS: Genomic DNA was isolated from peripheral blood leukocytes of seven patients from six unrelated families with MCD (three men and four women). Polymerase chain reaction was performed for coding regions of the carbohydrate sulfotransferase (CHST6), gene followed by bidirectional sequencing. Targeted mutational analysis (exons 4, 11-12, 14) of the transforming growth factor, beta-induced (TGFBI) gene was performed for all patients. RESULTS: All seven patients were found to have compound heterozygous mutations in the CHST6 gene. In addition to six previously reported mutations, c.95C>A (p.Ser32*), c.521A>G (p.Lys174Arg), c.557C>G (p.Pro186Arg), c.613C>T (p.Arg205Trp), c.820G>A (p.Glu274Lys), and c.1072T>C (p.Tyr358His), three novel mutations were identified in this study, including two missense mutations, c.353C>T (p.Ser118Phe) and c.922C>T (p.His308Tyr), and one frameshift mutation, c.786delC (p.L264Cfs*117). Among the three novel mutations, only the c.353C>T mutation had been reported in the Exon Aggregation Consortium database at an extremely low frequency of 0.00005072. In addition, these three novel mutations were absent from controls in 1,000 genomes, dbSNP, and the TIARA genome database, which is a Korean personal genome database. The most frequent mutation was c.613C>T (p.Arg205Trp), revealed in four unrelated Korean families, which has not previously been reported in other populations. No mutations were detected in the TGFBI gene. DISCUSSION: This is the first report on genetic analysis of Korean MCD patients. Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD.


Asunto(s)
Distrofias Hereditarias de la Córnea/genética , Proteínas de la Matriz Extracelular/genética , Mutación , Sulfotransferasas/genética , Factor de Crecimiento Transformador beta/genética , Adolescente , Adulto , Pueblo Asiatico , Secuencia de Bases , Estudios de Casos y Controles , Córnea/metabolismo , Córnea/patología , Distrofias Hereditarias de la Córnea/etnología , Distrofias Hereditarias de la Córnea/patología , Análisis Mutacional de ADN , Bases de Datos Genéticas , Femenino , Expresión Génica , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Carbohidrato Sulfotransferasas
10.
Korean J Ophthalmol ; 38(3): 194-202, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38584440

RESUMEN

PURPOSE: To determine subjective symptoms and medical history of patients with intermittent exotropia in a large study population. METHODS: The Korean Intermittent Exotropia Multicenter Study (KIEMS) is a nationwide, observational, cross-sectional, multicenter study conducted by the Korean Association for Pediatric Ophthalmology and Strabismus including 5,385 patients with intermittent exotropia. Subjective symptoms and medical history of patients with intermittent exotropia were extracted by a comprehensive survey based on a self-administered questionnaire according to the study protocol of the KIEMS. RESULTS: The mean age of symptom onset was 5.5 years. The most common symptom reported in patients with intermittent exotropia was photophobia (52.1%), followed by diplopia at near fixation (7.3%) and distance fixation (6.2%). Preterm birth was found in 8.8%, and 4.1% had perinatal complications. A family history of strabismus was present in 14.9%, and 5.5% of patients had a family member who underwent strabismus surgery. CONCLUSIONS: The KIEMS is one of the largest clinical studies on intermittent exotropia. Intermittent exotropia frequently caused photophobia and diplopia, and patients with a family history was not uncommon.


Asunto(s)
Exotropía , Autoinforme , Humanos , Exotropía/fisiopatología , Exotropía/diagnóstico , Exotropía/cirugía , Masculino , Femenino , Estudios Transversales , República de Corea/epidemiología , Niño , Preescolar , Encuestas y Cuestionarios , Adolescente , Adulto , Adulto Joven , Persona de Mediana Edad , Lactante
11.
Graefes Arch Clin Exp Ophthalmol ; 251(5): 1399-403, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23250483

RESUMEN

BACKGROUND: To compare unilateral lateral rectus (LR) advancement with medial rectus (MR) recession with bilateral MR recession for patients with consecutive esotropia (ET). METHODS: Twenty-nine patients who developed consecutive ET of 30-35 PD following bilateral LR recession for intermittent exotropia were retrospectively reviewed. LR advancement into the original insertion site with 4.5 mm (30 PD ET) and 5.0 mm (35 PD ET) MR recession in the chiefly deviating eye was performed in 14 patients (A&R group). For 15 patients (BMR group), 4.5 and 5.0 mm bilateral MR recession was performed for 30 and 35 PD esodeviation respectively. As the primary outcome measure, postoperative ocular alignment between 5 PD of esophoria and 10 PD exophoria was considered a success. RESULTS: At 12 months postoperatively, successful surgical outcome was noticed in 12 patients (85.7%) in the A&R group and 11 patients (73.3%) in the BMR group. There was no statistically significant difference of final success rate between the A&R group and BMR group (p = 0.411). At 12 months after surgery for consecutive ET, seven (50%) and eight patients (53.3%) acquired binocular fine stereopsis ≤100 s of arc in the A&R and BMR groups respectively CONCLUSIONS: Advancement of the previously recessed LR with recession of the MR in the chiefly deviating eye has a high success rate comparable to that of bilateral MR recession, with the advantage of preserving one MR muscle for potential future intervention.


Asunto(s)
Esotropía/cirugía , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos , Niño , Esotropía/fisiopatología , Femenino , Humanos , Masculino , Músculos Oculomotores/fisiopatología , Estudios Retrospectivos , Resultado del Tratamiento , Visión Binocular/fisiología , Agudeza Visual/fisiología
12.
Neuroophthalmology ; 37(4): 172-174, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-28167984

RESUMEN

Anterior communicating artery aneurysm is the most common form of intracranial aneurysm and subarachnoid haemorrhage (SAH) is the common presenting feature of anterior communicating artery aneurysms. In general, patients with SAH from anterior communicating artery aneurysm present with neurological deficit. We report an interesting case of a 60-year-old man who presented with acute monocular vision loss accompanied by periorbital pain without any neurological deficit, finally diagnosed with SAH from ruptured anterior communicating artery aneurysm. Five months after immediate craniotomy with aneurysm neck clipping, his visual acuity was improved to 20/63 with a pale optic disc appearance. Acute retrobulbar optic neuropathy may be the sole manifestation of SAH from ruptured anterior communicating artery aneurysm. Unilateral decrease of visual acuity with periorbital pain, in the absence of other neurological change, may be the initial and isolated sign.

13.
Sci Rep ; 13(1): 22474, 2023 12 18.
Artículo en Inglés | MEDLINE | ID: mdl-38110469

RESUMEN

We investigated changes in refraction and ocular biometrics in preschool children with early-onset high myopia. Sixty eyes of 60 children with a mean follow-up time of 58.5 months were included in this study. At baseline, mean age of children was 55.6 ± 13.1 months, mean spherical equivalent (SE) was - 8.59 ± 2.66 D, and 25.64 ± 1.16 mm for axial length (AL). The total annual rate of myopic progression and axial elongation were - 0.37 ± 0.39 D/year and 0.33 ± 0.18 mm/year, respectively. During follow-up period, there was a trend toward less myopic progression and axial elongation over time. Of the total participants, 24 children (40%) were in the myopia progression group and the remaining 36 children (60%) were in the myopia stability group. In multiple linear regression analysis, baseline SE and AL were independently associated with myopic progression, while age, sex, and baseline AL-to-CR ratio were not related to myopic progression. According to the model, more myopic SE (ß = - 0.186, P = 0.035) and longer AL (ß = - 0.391, P = 0.008) at baseline were significantly associated with myopic progression. Myopia progression in preschoolers with high myopia tended to be relatively modest, with 60% of subjects exhibited myopic stability. Higher myopic SE, and longer AL at baseline were associated with myopic progression in preschool children with high myopia.


Asunto(s)
Ojo , Miopía , Humanos , Preescolar , Refracción Ocular , Pruebas de Visión , Miopía/diagnóstico , Miopía/epidemiología , Biometría , Progresión de la Enfermedad , Longitud Axial del Ojo
14.
Mol Vis ; 18: 488-94, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22393275

RESUMEN

PURPOSE: To analyze the paired box gene 6 (PAX6) in Korean patients with congenital aniridia. METHODS: Genomic DNA was isolated from peripheral blood leukocytes of 22 aniridia patients in 18 unrelated families. Polymerase chain reaction was performed for all 14 exons of PAX6 followed by bidirectional sequencing. RESULTS: Fourteen different kinds of mutations were detected in 16 of 18 unrelated families (mutation detection rate: 88.9%), including four novel mutations; c.658G>T (p.Glu220*), c.464delG (p.Ser155Thrfs*52), c.87_90dupTGTA (p.Glu31Cysfs*26), and c.642A>C (p.Arg214Ser), among which the former three mutations induce premature termination of PAX6 protein translation. Approximately 92.9% of identified mutations lead to the premature termination of the protein resulting from 7 nonsense mutations (50.0%), 3 splicing errors (21.4%), 2 deletions (14.3%), and 1 insertion (7.1%). CONCLUSIONS: Most of the mutations identified in Korean aniridia patients lead to the premature truncation of the PAX6 protein, supporting that PAX6 protein haploinsufficiency causes the classic aniridia phenotype. We also found four novel PAX6 mutations associated with aniridia.


Asunto(s)
Aniridia/genética , Pueblo Asiatico/genética , Proteínas del Ojo/genética , Proteínas de Homeodominio/genética , Mutación , Factores de Transcripción Paired Box/genética , Proteínas Represoras/genética , Adolescente , Adulto , Secuencia de Bases , Niño , Preescolar , Exones , Femenino , Estudios de Asociación Genética , Genotipo , Haploinsuficiencia , Humanos , Intrones , Masculino , Datos de Secuencia Molecular , Factor de Transcripción PAX6 , Linaje , Fenotipo , República de Corea , Análisis de Secuencia de ADN
15.
Can J Ophthalmol ; 57(5): 337-343, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-34126060

RESUMEN

OBJECTIVE: To report the clinical features of premature twin babies showing intersibling asymmetry in their severity of retinopathy of prematurity (ROP) and analyze risk factors associated with development of severe ROP between twin siblings with discordant ROP severity. METHODS: A retrospective study of records of 105 premature twin pairs was conducted. The criteria for discordant ROP with an intersibling difference in ROP severity were as follows: (i) two or more stages of difference in ROP between siblings, (ii) one sibling having treatment-requiring ROP and the other having no ROP or ROP that regressed spontaneously, or (iii) one sibling having aggressive posterior ROP and the other having staged or no ROP. Twin siblings were classified into two groups according to the severity of ROP (no or less ROP and more severe ROP). We examined ocular features in twins having intersibling asymmetry of ROP and analyzed perinatal risk factors for ROP. RESULTS: Of 105 twin pairs, 32 pairs (30.5%) showed intersibling asymmetry of ROP severity, and 15 pairs (14.3%) showed ROP asymmetry in terms of need for ROP treatment. The development of more severe ROP was associated with longer duration of oxygen supplementation and greater frequency of total blood and packed red blood cell transfusion (p = 0.020, p = 0.045, and p = 0.036, respectively). Longer duration of oxygen supplementation remained a statistically independent risk factor of severe ROP using multivariate logistic regression analysis. CONCLUSIONS: Ophthalmologists caring for premature infants should be aware of the variable courses and progressions of ROP between twin babies. Longer duration of oxygen supplementation and greater frequency of blood transfusions were associated with higher ROP severity in twins.


Asunto(s)
Retinopatía de la Prematuridad , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Oxígeno , Embarazo , Retinopatía de la Prematuridad/diagnóstico , Retinopatía de la Prematuridad/cirugía , Estudios Retrospectivos , Factores de Riesgo
16.
PLoS One ; 17(8): e0272369, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35930578

RESUMEN

PURPOSE: To analyze ocular biometric changes following unilateral cataract surgery in children. METHODS: A total of 57 children aged under 13 years who underwent unilateral cataract surgery were analyzed. Groups were classified according to their age at surgery: group I (age <3), II (3≤ age <6), III (6≤ age <9), and IV (age ≥9). The myopic shift, axial growth, and corneal curvature changes were compared between the pseudophakic eyes and the fellow phakic eyes. RESULTS: During 7.81 ± 4.39 years, the overall myopic shift (D) and the rate of myopic shift (D/year) were significantly higher at -3.25 ± 3.21 D and -0.45 ± 0.44 D/year in the pseudophakic eyes than -1.78 ± 2.10 D and -0.22 ± 0.29 D/year in the fellow phakic eyes (P = 0.01, 0.004). Group I (-1.14 ± 0.66 vs -0.02 ± 0.45 D/year) and group II (-0.63 ± 0.37 vs -0.31 ± 0.29 D/year) showed significantly higher rate of myopic shift in the pseudophakic eyes than in the phakic eyes. The rate of myopic shift in the pseudophakic eyes decreased in the older age groups (P = 0.001). There was no significant between-eye difference in the changes in axial length and keratometric values postoperatively. CONCLUSION: Following unilateral cataract surgery, a significant postoperative myopic shift was noticed in the pseudophakic eyes compared to the fellow phakic eyes in groups under 6 years old. Postoperative myopic shift and the resultant anisometropia should be considered when selecting the optimal power of IOL in young children requiring unilateral cataract surgery.


Asunto(s)
Extracción de Catarata , Catarata , Miopía , Anciano , Biometría , Niño , Preescolar , Córnea , Estudios de Seguimiento , Humanos , Implantación de Lentes Intraoculares , Miopía/cirugía , Refracción Ocular
17.
Ophthalmol Retina ; 6(12): 1122-1129, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35659941

RESUMEN

PURPOSE: To assess changes in retinopathy of prematurity (ROP) diagnosis in single and serial retinal images. DESIGN: Cohort study. PARTICIPANTS: Cases of ROP recruited from the Imaging and Informatics in Retinopathy of Prematurity (i-ROP) consortium evaluated by 7 graders. METHODS: Seven ophthalmologists reviewed both single and 3 consecutive serial retinal images from 15 cases with ROP, and severity was assigned as plus, preplus, or none. Imaging data were acquired during routine ROP screening from 2011 to 2015, and a reference standard diagnosis was established for each image. A secondary analysis was performed using the i-ROP deep learning system to assign a vascular severity score (VSS) to each image, ranging from 1 to 9, with 9 being the most severe disease. This score has been previously demonstrated to correlate with the International Classification of ROP. Mean plus disease severity was calculated by averaging 14 labels per image in serial and single images to decrease noise. MAIN OUTCOME MEASURES: Grading severity of ROP as defined by plus, preplus, or no ROP. RESULTS: Assessment of serial retinal images changed the grading severity for > 50% of the graders, although there was wide variability. Cohen's kappa ranged from 0.29 to 1.0, which showed a wide range of agreement from slight to perfect by each grader. Changes in the grading of serial retinal images were noted more commonly in cases of preplus disease. The mean severity in cases with a diagnosis of plus disease and no disease did not change between single and serial images. The ROP VSS demonstrated good correlation with the range of expert classifications of plus disease and overall agreement with the mode class (P = 0.001). The VSS correlated with mean plus disease severity by expert diagnosis (correlation coefficient, 0.89). The more aggressive graders tended to be influenced by serial images to increase the severity of their grading. The VSS also demonstrated agreement with disease progression across serial images, which progressed to preplus and plus disease. CONCLUSIONS: Clinicians demonstrated variability in ROP diagnosis when presented with both single and serial images. The use of deep learning as a quantitative assessment of plus disease has the potential to standardize ROP diagnosis and treatment.


Asunto(s)
Retinopatía de la Prematuridad , Telemedicina , Recién Nacido , Humanos , Retinopatía de la Prematuridad/diagnóstico , Estudios de Cohortes , Reproducibilidad de los Resultados , Diagnóstico por Imagen/métodos , Telemedicina/métodos
18.
PLoS One ; 16(9): e0257480, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34520481

RESUMEN

PURPOSE: The outbreak of coronavirus disease 2019 (COVID-19) has caused many children to stay indoors. Increased near work and insufficient outdoor activities are considered important risk factors for myopic progression. This study aimed to compare the changes in myopic progression before and after COVID-19 in children treated with low-concentration atropine. METHODS: The records of 103 eyes of 103 children who were treated with low-concentration atropine eye drops were retrospectively reviewed. We classified children according to the concentration of atropine eye drops and children's age. The beginning of the pre-COVID-19 period was set from January 2019 to May 2019, and the endpoint was set in March 2020. The beginning of the post-COVID-19 period was set in March 2020, and the endpoint was set from January 2021 to March 2021. We evaluated the questionnaires administered to children's parents. RESULTS: A significant myopic progression was observed in the post-COVID-19 period compared to the pre-COVID-19 period in the 0.05% and 0.025% atropine groups (P < 0.001 and P = 0.020, respectively). For children aged 5 to 7 and 8 to 10 years, the axial elongations were significantly faster in the post-COVID-19 period than in the pre-COVID-19 period (P = 0.022 and P = 0.005, respectively). However, the rates of axial elongation and myopic progression were not significantly different between pre- and post-COVID-19 in children aged 11 to 15 years (P = 0.065 and P = 0.792, respectively). The average time spent using computers and smartphones and reading time were significantly increased, and the times of physical and outdoor activity were significantly decreased in the post-COVID-19 period compared to the pre-COVID-19 period. CONCLUSIONS: The rates of myopic progression have increased substantially after the spread of COVID-19 with an increase in the home confinement of children. Therefore, it is necessary to control the environmental risk factors for myopia, even in children undergoing treatment for the inhibition of myopic progression.


Asunto(s)
Atropina/administración & dosificación , COVID-19/prevención & control , Miopía/tratamiento farmacológico , Adolescente , Atropina/uso terapéutico , COVID-19/epidemiología , Niño , Control de Enfermedades Transmisibles , Computadores , Humanos , Miopía/epidemiología , Soluciones Oftálmicas , Pandemias , República de Corea/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Teléfono Inteligente
19.
Sci Rep ; 11(1): 23934, 2021 12 14.
Artículo en Inglés | MEDLINE | ID: mdl-34907246

RESUMEN

Extraocular muscle movement during strabismus surgery causes changes in eyeball shape. Because extraocular muscle insertion is in front of the equator, it is thought that changes due to strabismus surgery mainly occur in the anterior segment. However, changes in the posterior segment of eye may also occur, which may also result in changes in refractive error after strabismus surgery. Using a 3-dimensional reconstruction technique (en face imaging) of the swept source optical coherence tomography, we determined and quantitatively measured the posterior polar change. The deepest interface between Bruch's membrane and the choroid could be identified as the deepest point of the eyeball (DPE), and the location of the DPE relative to the optic disc and the fovea was measured. After lateral rectus muscle recession, the DPE moved away from the fovea, but after medial rectus muscle recession, the DPE moved toward the fovea. The amount of DPE movement differed by age and preoperative refractive error. Our findings suggest that the positional shift of the rectus muscle in horizontal strabismus surgery causes a structural change in the posterior segment of the eye, and the postoperative refractive changes may be related to this shift.


Asunto(s)
Músculos Oculomotores , Procedimientos Quirúrgicos Oftalmológicos , Estrabismo , Tomografía de Coherencia Óptica , Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculos Oculomotores/diagnóstico por imagen , Músculos Oculomotores/fisiopatología , Músculos Oculomotores/cirugía , Estrabismo/diagnóstico por imagen , Estrabismo/fisiopatología , Estrabismo/cirugía
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