RESUMO
PURPOSE: To evaluate changes in intraocular pressure (IOP) at different gaze positions before and after superior rectus muscle-lateral rectus muscle (SR-LR) loop myopexy in highly myopic strabismus (HMS). STUDY DESIGN: Nonrandomized clinical, prospective, interventional trial. METHODS: Fourteen patients with HMS (18 eyes) who underwent SR-LR loop myopexy were divided into 3 groups: < 100 prism diopters (PD) (mild esotropia [ET] group), > 100 PD (large ET group), and > 100 PD, and simultaneous recession of the medial rectus (MR) muscle was performed (large ET + MR group). Intraocular pressure was measured preoperatively and postoperatively at the primary, abduction, and adduction positions in each group. RESULTS: Intraocular pressure did not change after surgery in the mild ET group. Intraocular pressure significantly decreased in the abduction position (from 20.0 ± 2.1 to 16.0 ± 1.9 mmHg, P = 0.043) in the large ET group and in the abduction (from 22.2 ± 5.9 to 15.6 ± 4.3 mmHg, P = 0.048) and primary positions (from 15.8 ± 5.0 to 10.2 ± 2.8 mmHg, P = 0.043) in the large ET + MR group. The preoperative significant differences in IOP between the abduction and adduction positions in the large ET group (7.4 ± 3.4 mmHg) and the large ET + MR group (10.0 ± 5.5 mmHg) disappeared postoperatively (3.2 ± 2.8 mmHg and 3.6 ± 1.7 mmHg, respectively). The differences in IOP between abduction and adduction were similar in all the groups. CONCLUSION: SR-LR loop myopexy decreased IOP in patients with HMS in the abduction and primary positions.
Assuntos
Esotropia , Miopia , Estrabismo , Humanos , Esotropia/cirurgia , Pressão Intraocular , Miopia/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Estudos Prospectivos , Estrabismo/cirurgia , Resultado do TratamentoRESUMO
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. RPGRIP1-related LCA accounts for 5-6% of LCA. We performed whole-exome sequencing and whole-genome sequencing (WGS) on 29 patients with clinically suspected LCA and examined ophthalmic findings in patients with biallelic pathogenic variants of RPGRIP1. In addition to five previously reported cases, we identified five cases from four families with compound heterozygous RPGRIP1 variants using WGS. Five patients had null variants comprising frameshift variants, an Alu insertion, and microdeletions. A previously reported 1339 bp deletion involving exon 18 was found in four cases, and the deletion was relatively prevalent in the Japanese population (allele frequency: 0.002). Microdeletions involving exon 1 were detected in four cases. In patients with RPGRIP1 variants, visual acuity remained low, ranging from light perception to 0.2, and showed no correlation with age. In optical coherence tomography images, the ellipsoid zone (EZ) length decreased with age in all but one case of unimpaired EZ. The retinal structure was relatively preserved in all cases; however, there were cases with great differences in visual function compared to their siblings and a 56-year-old patient who still had a faint EZ line. Structural abnormalities may be important genetic causes of RPGRIP1-related retinal dystrophy in Japanese patients, and WGS was useful for detecting them.
Assuntos
Amaurose Congênita de Leber , Distrofias Retinianas , Humanos , Pessoa de Meia-Idade , População do Leste Asiático , Distrofias Retinianas/genética , Retina , Éxons , Mutação da Fase de Leitura , Amaurose Congênita de Leber/genética , Proteínas do CitoesqueletoRESUMO
PURPOSE: To describe clinical presentations of acquired comitant esotropia and digital device use in children, adolescents, and young adults without neurological problems. STUDY DESIGN: Multicenter prospective observational study. METHODS: Patients with acquired comitant esotropia, without intracranial diseases aged 5-35 years at the time of visit, who were seen at pre-registered facilities within 1 year of onset were enrolled. The duration from the onset of symptoms and the time of digital device usage approximately 1 month before onset and their lifestyles were surveyed. Visual acuity, cycloplegic refraction, and strabismus angles were measured. Data were analyzed in three age groups (Child: 5-12 years, Adolescent: 13-18 years, and Young adult: 19-35 years). RESULTS: Between November 2019 and December 2021, 218 patients were enrolled from 55 facilities, and 194 patients (including 62 children, 69 adolescents, and 63 young adults) were analyzed. The child group spent the least amount of time using digital devices (children: 159; adolescents: 210; young adults: 267 min/work day, p < 0.05; (mean time in the same order below) 229, 338, 314 min/holiday, p < 0.05) and had the largest strabismus angle (mean strabismus angle at near: 30, 22, 18 PD, p < 0.01; at far: 28, 26, 21 PD, p<0.05). CONCLUSION: The clinical features of acquired comitant esotropia and hand-held digital device usage differed between children aged ≤ 12 years and older patients. This report gives the current clinical characteristics of young patients with acquired esotropia and digital device usage.
Assuntos
Esotropia , Estrabismo , Criança , Adolescente , Adulto Jovem , Humanos , Pré-Escolar , Adulto , Esotropia/diagnóstico , População do Leste Asiático , Estrabismo/diagnóstico , Acuidade Visual , Análise de Dados , Estudos Retrospectivos , Músculos Oculomotores , Doença AgudaRESUMO
Purpose: To report stereopsis after bilateral Yokoyama procedure in patients with highly myopic strabismus and good visual acuity. Observations: Five patients aged between 34 and 81 years with best-corrected visual acuity of 20/25 or better were operated on. The preoperative strabismus angle ranged from esotropia of 35-113 prism diopters (PD) at distance and esotropia of 40-113 PD at near. One patient had left hypotropia of 4 PD and excyclotorsion of 15°, and the other had left hypotropia of 10 PD. Their axial lengths were 27.65-33.07 mm, and the posterior globe dislocation angles were between 123 and 148° on coronal magnetic resonance imaging (MRI). Limitations of abduction were between -1 and -2. All patients complained of diplopia, and none of them showed stereopsis. The Yokoyama procedure was performed on both eyes. Postoperative alternate cover testing showed from esotropia of 2 PD to exophoria of 8 PD at distance and from exotropia of 12 PD to esophoria of 10 PD at near.Three patients recovered stereopsis of 100, 50, and 140 sec, respectively. Two cases required unilateral inferior rectus muscle recessions, and their postoperative stereopsis was 25 and 50 sec. Conclusions and Importance: The Yokoyama procedure is effective not only in cases of heavy eye syndrome but also in cases of myopic esotropia associated with a globe dislocation angle of 120° or with little abduction restriction. If visual acuity is good, stereopsis may be restored with improvement in eye deviation.
RESUMO
BACKGROUND: Axial spondylometaphyseal dysplasia(axial SMD) is associated with early-onset retinal dystrophy and various skeletal dysplasias of varying severity. NEK1 is the causative gene for short rib polydactyly syndrome and axial SMD. Here, we report a case of siblings with juvenile retinitis pigmentosa (RP) and NEK1 variants not associated with systemic disorders. MATERIALS AND METHODS: The patients were a 7-year-old-girl and a 9-year-old boy with RP, who were followed for 9 years. Whole exome sequencing (WES) was performed on the siblings and their parents, who were not consanguineous. RESULTS: The corrected visual acuity of the girl and the boy at first visit was binocular 20/63 and 20/100 OD and 20/63 OS, respectively. The siblings had narrowing of retinal blood vessels and retinal pigment epithelium atrophy in the fundus and showed an extinguished pattern in electroretinogram. On optical coherence tomography, there was a mottled ellipsoid band with progressive loss in the outer macular, the edges of which corresponded to the ring of hyperautofluorescence on fundus autofluorescence imaging. The siblings showed progressive visual field constriction. Radiological examination did not reveal any skeletal abnormalities. We identified two rare heterozygous NEK1 variants in the patients: c.240 G>A; p.(M80I) and c.634_639dup;p.(V212_L213dup). Heterozygous variants were recognized in the father and mother, respectively. According to the guidelines of the American College of Medical Genetics and Genomics, both variants were classified as likely pathogenic. CONCLUSION: This is the first report of RP patients with NEK1 variants not associated with skeletal abnormalities.
Assuntos
Osteocondrodisplasias , Distrofias Retinianas , Retinose Pigmentar , Masculino , Feminino , Humanos , Criança , Irmãos , Retinose Pigmentar/genética , Tomografia de Coerência Óptica , Mutação , Quinase 1 Relacionada a NIMA/genéticaRESUMO
PURPOSE: To evaluate intraocular pressure (IOP) at different gaze positions in patients with highly myopic strabismus (HMS). STUDY DESIGN: Nonrandomized, prospective, observational study. METHODS: This study included 18 eyes of 14 patients with HMS and 51 eyes of 51 age-matched controls without strabismus; these were further divided into two groups based on refractive errors: > -6.00 diopter (D) (n = 22 eyes) and ≤ -6.00 D (n = 29 eyes). IOP was measured in primary and side gazes and compared within and among groups. The relationships between IOPs and axial length, angle of globe dislocation measured on magnetic resonance imaging, strabismus angle, and degree of abduction deficit were studied. RESULTS: The HMS group showed higher IOP in abduction (19.3 ± 4.9 mmHg) than in the primary (12.5 ± 4.3 mmHg) and adducting positions (13.0 ± 3.3 mmHg), (p < 0.001). The IOP in the adducting position in the HMS group (13.0 ± 3.3 mmHg) was lower than in the control groups both with (17.6 ± 3.5 mmHg) and without (16.9 ± 4.1 mmHg) high myopia, ; (p < 0.001 and = 0.003). The difference in IOP between abduction and adduction was significantly larger in the HMS group (6.4 ± 4.6 mmHg) compared to others (p < 0.001) and positively correlated with the strabismus angle and the angle of globe dislocation and negatively with abduction deficit. CONCLUSION: The IOP of patients with HMS changes dramatically on side gazes, therefore, care should be taken while measuring IOP.
Assuntos
Miopia , Estrabismo , Humanos , Pressão Intraocular , Estudos Prospectivos , Tonometria Ocular , Estrabismo/diagnóstico , Miopia/complicações , Miopia/diagnósticoRESUMO
PURPOSE: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. Although exophthalmos is not considered to be a common feature of CPEO, this study focused on the incidence of exophthalmos in patients with CPEO. STUDY DESIGN: Retrospective observational case series METHODS: We reviewed the clinical charts of patients who received a diagnosis of CPEO sometime during the period between January 2010 and December 2018. CPEO was diagnosed on the basis of detection of a deletion of mitochondrial DNA (mtDNA) from saliva, buccal mucosa, or extraocular muscle specimens obtained during strabismus surgery. Horizontal MRI/CT images or Hertel ophthalmometry was used in determining exophthalmos. RESULTS: Seven patients (4 males) were identified. The mean age at diagnosis was 32.6 years (range 13-53 years). mtDNA deletion mutations were detected in the buccal mucous membrane DNA in 5 patients and in the saliva and extraocular muscle DNA in 2 patients. MRI/CT was recorded in 6 patients, four of whom showed exophthalmos (cases 1-4), and case 5 was determined as exophthalmos on the basis of a Hertel ophthalmometer reading. Exophthalmos was bilateral in 4 of the patients (cases 1, 2, 4, and 5) and unilateral in 1 patient (case 3). Exophthalmos was the chief concern of 2 of the patients; however, it was not clinically significant in the other patients. CONCLUSIONS: Although exophthalmos may not be recognized by either the patient or the clinician, it may be one of the common features of CPEO. A large multiethnic study should be performed.
Assuntos
Exoftalmia , Oftalmoplegia Externa Progressiva Crônica , Adolescente , Adulto , DNA Mitocondrial/genética , Exoftalmia/diagnóstico , Exoftalmia/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores , Oftalmoplegia Externa Progressiva Crônica/complicações , Oftalmoplegia Externa Progressiva Crônica/diagnóstico , Oftalmoplegia Externa Progressiva Crônica/genética , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: To compare conjunctival-scleral thickness measured with anterior segment optical coherence tomography before and after medial rectus muscle resection and plication for exotropia. METHODS: In this prospective observational study, patients with exotropia aged 5 years and older who underwent medial rectus muscle resection or plication through limbal incision of the conjunctiva between April 2016 and June 2018 were enrolled. Conjunctivalscleral thickness was measured with anterior segment optical coherence tomography before and 3 and 6 months after surgery at 1.5 mm (limbus), 4 mm (insertion), and 5.5 mm (tendon) posterior to the scleral spur. One examiner made measurements twice blinded for the initial data. Conjunctival-scleral thickness was compared between groups using the Mann-Whitney U test. RESULTS: Twenty participants were divided into two groups: resection (n = 11) and plication (n = 9). The respective conjunctival-scleral thicknesses before and 3 and 6 months after surgery in the resection group were as follows: 0.76, 0.90, and 0.86 mm at the limbus; 0.86, 1.18, and 1.12 mm at the insertion; and 1.04, 1.41, and 1.33 mm at the tendon. Corresponding values in the plication group were as follows: 0.74, 0.87, and 0.81 mm at the limbus; 0.84, 1.16, and 1.08 mm at the insertion; and 1.00, 1.39, and 1.27 mm at the tendon. No between-group differences were observed at any location or time. CONCLUSIONS: No differences in conjunctival-scleral thickness were observed between the resection and plication groups before surgery or at 3 months and 6 months postoperatively. [J Pediatr Ophthalmol Strabismus. 2022;59(4):274-278.].
Assuntos
Exotropia , Túnica Conjuntiva/cirurgia , Exotropia/cirurgia , Humanos , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: This study aimed to identify the characteristics of acute acquired comitant esotropia (AACE) in young patients from a single institution; and clarify their relationship with the excess use of digital devices. STUDY DESIGN: Retrospective, observational. METHODS: We extracted the clinical charts of patients aged between 5 and 35 years who presented at the Hamamatsu University Hospital with AACE symptoms from January 1, 2015 to December 31, 2018. The age of onset, angle of deviation, refractive errors, history of near work, including excess smartphone use, and treatment modality were retrieved. Patients were divided into three groups: CHILD (aged 5-12 years), JUNIOR (aged 13-17 years), and ADULT (aged 18-35 years) and statistically analyzed with Kruskal-Wallis test. RESULTS: Forty-one patients were retrieved, with a mean age at onset of 15.8 (5-28) years; eight in the CHILD group, 23 in the JUNIOR group, and 10 in the ADULT group. Refractive errors and age of patients were correlated, but were not significantly different among groups. The mean angle of deviation at distance was 28.0 ± 12.8 prism diopters (PD) and 28.6 ± 17.2 PD at near. The CHILD group showed the largest near-distant dissociation. History of excessive near work was found in all groups. CONCLUSION: AACE was most commonly found in the JUNIOR group, especially those aged 15-16 years. AACE may encompass multiple diseases; using common diagnostic criteria and asking common questions regarding digital device usage is necessary to clarify the influence of digital device usage, and a multicenter prospective study is recommended.
Assuntos
Esotropia , Erros de Refração , Doença Aguda , Adolescente , Adulto , Criança , Pré-Escolar , Esotropia/diagnóstico , Esotropia/epidemiologia , Humanos , Músculos Oculomotores , Estudos Prospectivos , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: To report two cases of acquired bilateral trochlea nerve palsy with large torsional deviation successfully treated by simultaneous bilateral inferior rectus muscle (IR) nasal transposition and inferior oblique muscle (IO) myectomy. OBSERVATIONS: Case 1 was of a 54-year-old man with torsional diplopia after a traffic accident. He showed 32° and 38° excyclotorsion in the primary and downward gazes, respectively. Case 2 was of a 56-year-old woman with torsional diplopia after a brain tumor operation. She showed 25° and 33° excyclotorsion in the primary and downward gazes, respectively. We simultaneously performed bilateral IR nasal transposition and IO myectomy in these two cases. Postoperatively, case 1 presented with improved excyclotorsion, with 2° and 7° excyclotorsion in the primary and downward gazes, respectively; case 2 similarly presented with improved excyclotorsion, with 4° and 12° excyclotorsion in the primary and downward gazes, respectively. CONCLUSIONS AND IMPORTANCE: Simultaneous bilateral IR nasal transposition and IO myectomy are effective for treating large-angle torsional deviations, especially in downward gaze, requiring only one operation. A new surgical approach is suggested for the successful treatment of large torsional deviations, requiring only one operation.
RESUMO
PURPOSE: To investigate the effect of the gaze fixation position on measurement of the limbus and extraocular muscle (EOM) insertion site distance using anterior segment optical coherence tomography (AS-OCT). METHODS: Patients undergoing horizontal EOM surgeries were enrolled in this prospective experimental study. The distance between the angle recess and the muscle insertion site was measured using AS-OCT while patients fixed their gaze laterally or medially at inner or outer gaze fixation. The distance between the limbus and muscle insertion was intraoperatively measured using calipers. RESULTS: A total of 46 lateral rectus muscles and 36 medial rectus muscles of 44 patients were evaluated. Significant differences were observed between intra-operative measurements (6.3 ± 0.7 mm) and AS-OCT measurements (5.8 ± 0.7 mm) for the lateral rectus muscle at inner gaze fixation (P = .0017) and medial rectus muscle at outer gaze fixation (P = .0003); no difference was observed when the lateral rectus (6.4 ± 0.5 mm) and medial rectus (4.9 ± 0.6 mm) muscles were measured at outer and inner gaze fixation, respectively. Bland-Altman plots showed better consistency at outer gaze fixation than at inner gaze fixation for the lateral rectus muscle; the opposite was observed for the medial rectus muscle. More than 80% of the AS-OCT measurements were within 1 mm of the intraoperative measurements at outer gaze fixation for the lateral rectus muscle and inner gaze fixation for the medial rectus muscle. CONCLUSIONS: Gaze fixation at outer gaze fixation for the lateral rectus muscle and inner gaze fixation for the medial rectus muscle was an appropriate technique to assess limbus and EOM insertion using AS-OCT. [J Pediatr Ophthalmol Strabismus. 2021;58(1):28-33.].
Assuntos
Oftalmologia , Estrabismo , Humanos , Músculos Oculomotores/diagnóstico por imagem , Músculos Oculomotores/cirurgia , Estudos Prospectivos , Estrabismo/cirurgia , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To report the diagnosis of three childhood patients with blue-cone monochromatism (BCM) using S-cone electroretinograms (ERG) recorded with RETeval® Complete. STUDY DESIGN: Prospective clinical study. METHODS: We examined three boys initially suspected of having rod monochromatism. S-cone ERG was performed with red background and blue flashed light stimulation using two different intensities: 0.25 cd × s/m2 and 1 cd × s/m2. RESULTS: Case 1 was a 12-year-old boy with a visual acuity of 0.1 OU. Case 2 was an 8-year-old boy with a visual acuity of 0.3 OD and 0.2 OS. Both cases showed a myopic fundus and nystagmus without any other ocular abnormalities. Case 3 was a 6-year-old boy with a visual acuity of 0.3 OD and 0.4 OS. He also showed myopic fundus changes, but nystagmus was not observed. Rod and maximal responses recorded with RETeval® were likely to be within normal range; however, cone responses were absent in all cases. S-cone ERGs showed positive responses at 40 ms with 0.25 cd × s/m2 intensity in Case 2, and at approximately 30-40 ms with 1.0 cd × s/m2 intensity in all three cases. These ERG findings led to a diagnosis of BCM. CONCLUSIONS: S-cone ERG of RETeval® was helpful in diagnosing with minimal invasion BCM in childhood patients.
Assuntos
Defeitos da Visão Cromática , Criança , Defeitos da Visão Cromática/diagnóstico , Eletrorretinografia , Humanos , Masculino , Estudos Prospectivos , Células Fotorreceptoras Retinianas Cones , Acuidade VisualRESUMO
Background: Chromosomal deletion involving the 6p25 region results in a clinically recognizable syndrome characterized by anterior eye chamber anomalies with risk of glaucoma and non-ocular malformations (6p25 deletion syndrome). We report a newborn infant case of childhood glaucoma with a combination of partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.Materials and methods: The patient was a 0-year-old girl. Both eyes showed aniridia and left eye Peters anomaly with multiple malformations. To identify the chromosomal aberrations in the patient with clinically suspected 6p25 deletion syndrome, we performed cytogenetic analysis (G-banding and multicolor fluorescent in-situ hybridization) and array-based comparative genomic hybridization (array-CGH) analysis.Results: Cytogenetic analyses revealed a derivative chromosome 6 with its distal short arm replaced by an extra copy of the short arm of chromosome 18. Array-CGH analysis detected a 4.6-Mb deletion at 6pter to 6p25.1 and 8.9-Mb duplication at 18pter to 18p11.22. To determine the breakpoint of the unbalanced rearrangement at the single-base level, we performed a long-range PCR for amplifying the junctional fragment of the translocation breakpoint. By sequencing the junctional fragment, we defined the unbalanced translocation as g.chr6:pter_4594783delinschr18:pter_8911541.Conclusions: A phenotype corresponding to combined monosomy 6p25 and trisomy 18p11 presented as childhood glaucoma associated with non-acquired (congenital) ocular anomalies consist of aniridia and Peters anomaly and other systemic malformations. To the best of our knowledge, this is the first report which demonstrated the breakpoint sequence of an unbalanced translocation in a Japanese infant with childhood glaucoma.
Assuntos
Cromossomos Humanos Par 6/genética , Glaucoma/patologia , Monossomia , Translocação Genética , Trissomia/genética , Cromossomos Humanos Par 18/genética , Feminino , Glaucoma/complicações , Glaucoma/genética , Humanos , Recém-Nascido , FenótipoRESUMO
PURPOSE: To evaluate changes in conjunctival-scleral thickness following strabismus surgery with anterior segment optical coherence tomography (AS-OCT). STUDY DESIGN: Prospective, observational, consecutive case series. METHODS: Distances between the conjunctival epithelium and inner scleral wall were measured with AS-OCT before and 3-5 months after strabismus surgery. The measurements were performed at 1.5 mm (limbus), 7.0 mm (insertion), and 8.0 mm (tendon) posterior to the scleral spur on the lateral rectus muscle (LR); and 1.5 mm (limbus), 4.0 mm (insertion), and 5.5 mm (tendon) posterior to the scleral spur on the medial rectus muscle (MR). Thirty-three extraocular muscles (20 LRs and 13 MRs) from 23 subjects were studied. RESULTS: Thicknesses were significantly less at the insertion (0.95-0.78 mm; p < 0.001) and tendon (0.99-0.78 mm; p < 0.001) after LR recession and at the tendon (1.21-0.92 mm; p = 0.02) after MR recession. Thicknesses were significantly greater at the insertion (0.82-1.07 mm; p = 0.01) and tendon (0.95-1.28 mm; p = 0.01) after MR resection or plication and at the limbus, insertion, and tendon (0.75-0.90 mm, 0.94-1.19 mm, 1.03-1.28 mm, respectively; all p = 0.04) after LR resection or plication. CONCLUSION: Conjunctival-scleral thicknesses showed various changes after recession and resection or plication. These findings may help detect previous surgical operations when conjunctival scarring and ciliary vessel changes are unclear.
Assuntos
Segmento Anterior do Olho/diagnóstico por imagem , Túnica Conjuntiva/diagnóstico por imagem , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Esclera/diagnóstico por imagem , Estrabismo/cirurgia , Tomografia de Coerência Óptica/métodos , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Estudos Prospectivos , Estrabismo/diagnóstico , Adulto JovemRESUMO
Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease, and represents the most severe form of inherited retinal dystrophy (IRD). The present study reports the mutation spectra and frequency of known LCA and IRD-associated genes in 34 Japanese families with LCA (including three families that were previously reported). A total of 74 LCA- and IRD-associated genes were analysed via targeted-next generation sequencing (TS), while recently discovered LCA-associated genes, as well as known variants not able to be screened using this approach, were evaluated via additional Sanger sequencing, long-range polymerase chain reaction, and/or copy number variation analyses. The results of these analyses revealed 30 potential pathogenic variants in 12 (nine LCA-associated and three other IRD-associated) genes among 19 of the 34 analysed families. The most frequently mutated genes were CRB1, NMNAT1, and RPGRIP1. The results also showed the mutation spectra and frequencies identified in the analysed Japanese population to be distinctly different from those previously identified for other ethnic backgrounds. Finally, the present study, which is the first to conduct a NGS-based molecular diagnosis of a large Japanese LCA cohort, achieved a detection rate of approximately 56%, indicating that TS is a valuable method for molecular diagnosis of LCA cases in the Japanese population.
Assuntos
Amaurose Congênita de Leber/diagnóstico , Amaurose Congênita de Leber/genética , Adolescente , Adulto , Idoso , Criança , Proteínas do Citoesqueleto , Variações do Número de Cópias de DNA , Análise Mutacional de DNA , Exoma , Proteínas do Olho/genética , Proteínas do Olho/metabolismo , Família , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Japão , Masculino , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Mutação/genética , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Nicotinamida-Nucleotídeo Adenililtransferase/genética , Nicotinamida-Nucleotídeo Adenililtransferase/metabolismo , Linhagem , Proteínas/genética , Proteínas/metabolismo , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genéticaRESUMO
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the characteristics of a Japanese patient with BBS caused by BBS10 mutations. PATIENT AND METHODS: The patient was a 22-year-old Japanese woman. Comprehensive ophthalmic examinations, including visual acuity measurements, perimetry, electroretinography (ERG), fundus autofluorescence imaging, and optical coherence tomography, were performed. Trio-based whole-exome sequencing was performed to identify potential pathogenic mutations, confirmed by Sanger sequencing. RESULTS: The patient showed neither renal malformation nor dysfunction, and visual impairment seemed to be relatively mild for BBS. The fundus examination revealed diffuse retinal degeneration without pigmentary deposits, and ERG scans showed undetectable responses. She had a history of surgically corrected polydactyly, and displayed symptoms of obesity. There was also a menstrual irregularity that could require progestin administration. Genetic analysis revealed compound heterozygous BBS10 mutations in the patient: a novel missense mutation c.98G>A [p.(G33E)], and a novel nonsense mutation c.2125A>T [p.(R709*)]. CONCLUSION: To our knowledge, this is the first description of a Japanese patient with BBS caused by BBS10 mutations. The clinical characteristics of our patient were mild, as neither renal impairment nor legal blindness was observed. Early diagnosis would play a role in providing counseling, and in some cases, therapeutic interventions for BBS patients.
Assuntos
Síndrome de Bardet-Biedl/genética , DNA/genética , Chaperoninas do Grupo II/genética , Mutação , Retina/diagnóstico por imagem , Síndrome de Bardet-Biedl/diagnóstico , Síndrome de Bardet-Biedl/metabolismo , Chaperoninas , Análise Mutacional de DNA , Eletrorretinografia , Feminino , Chaperoninas do Grupo II/metabolismo , Humanos , Japão , Oftalmoscopia , Retina/fisiopatologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Tomografia de Coerência Óptica , Adulto JovemRESUMO
PURPOSE: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2). METHODS: Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included. Their complete history and medical records were collected using standard procedures. Visual fields and acuity were compared with those of patients with EYS mutations. Clinical analyses were based on ophthalmic and otolaryngologic examinations. RESULTS: In all patients, the fundus displayed changes typical of RP. Most patients showed relatively well-preserved visual acuity in their thirties or forties, with rapid deterioration in their fifties. Concentric constriction started in the twenties or thirties, and no effective residual visual field was observed after the fifties. CONCLUSIONS: The visual outcome for non-syndromic RP or USH2 patients with USH2A mutations is consistent with that for RP patients with EYS mutations.
Assuntos
DNA/genética , Proteínas da Matriz Extracelular/genética , Mutação , Retinose Pigmentar/genética , Síndromes de Usher/genética , Acuidade Visual , Campos Visuais/fisiologia , Adolescente , Adulto , Criança , Análise Mutacional de DNA , Éxons , Proteínas da Matriz Extracelular/metabolismo , Feminino , Genótipo , Humanos , Incidência , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Linhagem , Prognóstico , Retinose Pigmentar/epidemiologia , Retinose Pigmentar/metabolismo , Síndromes de Usher/epidemiologia , Síndromes de Usher/metabolismo , Adulto JovemRESUMO
PURPOSE: To clarify the efficacy of a surgical strategy based on the superior oblique tendon traction test. METHODS: A retrospective chart review was performed between January 2002 and June 2015. During that period, a single inferior oblique muscle (IO) myectomy and a combined IO myectomy and superior oblique muscle (SO) tuck procedure were performed based on SO tendon looseness as revealed by a traction test. The surgical effects of both procedures and the number of operations were analyzed. RESULTS: Sixty-five cases were retrieved. Seventy-four surgeries were required. The IO myectomy and simultaneous groups included 48 and 17 cases, respectively. Pre-operative vertical deviation was significantly lower in the IO myectomy (11.8 prism diopters) than in the simultaneous (27.2 prism diopters; Mann-Whitney U-test, P < 0.001) group. The mean induced changes were 9.4 prism diopters and 21.6 prism diopters in the IO myectomy and simultaneous groups, respectively, and the postoperative vertical deviation was not significantly different. On average, 1.13 and 1.18 surgeries per patient were performed in the IO myectomy and simultaneous groups, respectively. CONCLUSION: The simultaneous surgery of inferior oblique myectomy and superior oblique tuck is safe and effective for treating large angle of congenital/idiopathic superior oblique palsy with a lax superior oblique tendon, as determined by the traction test.
Assuntos
Monitorização Intraoperatória/métodos , Nervo Oculomotor/fisiologia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Tendões/fisiologia , Tração , Doenças do Nervo Troclear/congênito , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Humanos , Lactente , Pessoa de Meia-Idade , Contração Muscular , Músculos Oculomotores/fisiologia , Músculos Oculomotores/cirurgia , Nervo Oculomotor/cirurgia , Estudos Retrospectivos , Tendões/cirurgia , Doenças do Nervo Troclear/cirurgia , Adulto JovemRESUMO
PURPOSE: To investigate the surgical results for consecutive exotropia with or without insertion abnormalities on the basis of the position of the lateral rectus muscle at surgery. METHODS: Patients with consecutive exotropia who had undergone medial rectus recession as a primary procedure or advancement of previously recessed medial rectus muscles from 2002 to 2012 were included in the study. The characteristics, postoperative courses, and final results were compared among 3 patient groups. The patients' characteristics including sex, refractive error, and age at the initial surgery were compared. The main outcome measures were the angles of deviation in the primary position and the average divergent drift per month after the exotropia surgery. RESULTS: Twenty-four eyes of 23 patients were investigated. The patients were divided into 3 groups according to insertion status: with normal muscle insertion (4 men, 4 women), slipped muscles (9 women), and stretched scars (2 men, 4 women). The preoperative angles of deviation at near differed significantly between the slipped muscle group and the normal muscle insertion group (P = 0.02). Only patients with normal insertions had significantly greater hyperopia in the nondominant eye (0.95 D) than in the dominant eye (0.53 D). The postoperative divergent shift per month was similar among the groups (0.3, 0.1, and 0.2 prism diopters per month in the slipped muscle, stretched scar, and normal muscle insertion groups, respectively; P = 0.70). CONCLUSIONS: Hyperopic anisometropia is an important factor in the natural course of outward drift. The postoperative course of advancement of the medial rectus muscle was equally stable in all 3 patient groups.