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1.
Ophthalmic Physiol Opt ; 43(5): 972-984, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37334937

RESUMO

PURPOSE: To survey paediatric eye care providers to identify current patterns of prescribing for hyperopia. METHODS: Paediatric eye care providers were invited, via email, to participate in a survey to evaluate current age-based refractive error prescribing practices. Questions were designed to determine which factors may influence the survey participant's prescribing pattern (e.g., patient's age, magnitude of hyperopia, patient's symptoms, heterophoria and stereopsis) and if the providers were to prescribe, how much hyperopic correction would they prescribe (e.g., full or partial prescription). The response distributions by profession (optometry and ophthalmology) were compared using the Kolmogorov-Smirnov cumulative distribution function test. RESULTS: Responses were submitted by 738 participants regarding how they prescribe for their hyperopic patients. Most providers within each profession considered similar clinical factors when prescribing. The percentages of optometrists and ophthalmologists who reported considering the factor often differed significantly. Factors considered similarly by both optometrists and ophthalmologists were the presence of symptoms (98.0%, p = 0.14), presence of astigmatism and/or anisometropia (97.5%, p = 0.06) and the possibility of teasing (8.3%, p = 0.49). A wide range of prescribing was observed within each profession, with some providers reporting that they would prescribe for low levels of hyperopia while others reported that they would never prescribe. When prescribing for bilateral hyperopia in children with age-normal visual acuity and no manifest deviation or symptoms, the threshold for prescribing decreased with age for both professions, with ophthalmologists typically prescribing 1.5-2 D less than optometrists. The threshold for prescribing also decreased for both optometrists and ophthalmologists when children had associated clinical factors (e.g., esophoria or reduced near visual function). Optometrists and ophthalmologists most commonly prescribed based on cycloplegic refraction, although optometrists most commonly prescribed based on both the manifest and cycloplegic refraction for children ≥7 years. CONCLUSION: Prescribing patterns for paediatric hyperopia vary significantly among eye care providers.


Assuntos
Astigmatismo , Hiperopia , Optometria , Erros de Refração , Criança , Humanos , Hiperopia/tratamento farmacológico , Midriáticos
2.
Ophthalmology ; 129(6): 708-718, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35157951

RESUMO

PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). METHODS: Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans. MAIN OUTCOME MEASURES: Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS-), molecular diagnosis, and visual acuity (VA). RESULTS: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-square = 60.4, P < 0.0001). All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky-Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH. CONCLUSIONS: We characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms of FH. In typical FH, our data suggest that arrested retinal development occurs earlier in SLC38A8, OA, HPS, and AHR variants and later in FRMD7 variants. The defined time period of foveal developmental arrest for OCA and PAX6 variants seems to demonstrate more variability. Our findings provide mechanistic insight into disorders associated with FH and have significant prognostic and diagnostic value.


Assuntos
Albinismo Ocular , Albinismo Oculocutâneo , Albinismo , Defeitos da Visão Cromática , Albinismo Ocular/diagnóstico , Albinismo Ocular/genética , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/genética , Proteínas do Citoesqueleto , Fóvea Central/anormalidades , Humanos , Proteínas de Membrana , Transtornos da Visão/diagnóstico
4.
Optom Vis Sci ; 92(1): 107-14, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25415281

RESUMO

PURPOSE: To investigate the effect of an artificial scotoma on open-loop disparity vergence responses (DVRs) and vergence control mechanisms, we examined open-loop DVRs to disparity stimuli using monocular artificial scotomas in normal subjects. METHODS: Using a mirror haploscope with two computer monitors, we delivered disparity stimuli on a pair of random dot patterns subtending 40 by 30 degrees at 47 cm from each eye. The scotomas were black circles located in the center of a random dot pattern for the left eye. Eye movements of both eyes were recorded with a magnetic search coil system. RESULTS: We first found that the amplitudes of DVRs were gradually decreased and the latency of DVRs was moderately increased as the size of the scotomas was increased. Second, monocular responses from each eye were symmetrical although the stimuli to each eye were asymmetrical. CONCLUSIONS: The results suggest that the monocular eye movements in disparity vergence are controlled by a binocular central mechanism, not driven separately by monocular inputs in the open-loop window.


Assuntos
Convergência Ocular/fisiologia , Movimentos Oculares/fisiologia , Escotoma/fisiopatologia , Disparidade Visual/fisiologia , Adulto , Medições dos Movimentos Oculares , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Biológicos , Adulto Jovem
5.
Nat Genet ; 38(11): 1242-4, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17013395

RESUMO

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.


Assuntos
Proteínas do Citoesqueleto/genética , Genes Ligados ao Cromossomo X , Proteínas de Membrana/genética , Nistagmo Congênito/genética , Encéfalo/embriologia , Encéfalo/metabolismo , Mapeamento Cromossômico , Cromossomos Humanos X , Proteínas do Citoesqueleto/fisiologia , Movimentos Oculares/genética , Movimentos Oculares/fisiologia , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Ligação Genética , Humanos , Masculino , Proteínas de Membrana/fisiologia , Mutação/fisiologia , Linhagem , Retina/metabolismo
6.
Surg Radiol Anat ; 36(6): 605-6, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23975092

RESUMO

We report a case of bilateral bifid insertion of superior rectus muscles, in a patient with oculocutaneous albinism as an incidental intraoperative finding during eye muscle surgery. The muscle was successfully operated on and the patient did well postoperatively. To our knowledge, this is the first report of this anomaly.


Assuntos
Albinismo Oculocutâneo/cirurgia , Achados Incidentais , Músculos Oculomotores/anormalidades , Músculos Oculomotores/cirurgia , Criança , Feminino , Seguimentos , Humanos , Período Intraoperatório
7.
J Pediatr Ophthalmol Strabismus ; 60(6): 406-410, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36546778

RESUMO

PURPOSE: To characterize a large, international cohort of children with nystagmus. METHODS: Data were collected from a single-center, prospectively developed database on patients with nystagmus. Outcome variables for this study included: (1) demographic characteristics, (2) nystagmus type, (3) clinical characteristics, (4) associated ophthalmic conditions, (5) associated non-ophthalmic conditions, (6) special testing findings, and (7) treatments. RESULTS: Six hundred patients from 38 states and 30 countries were included. Age ranged from birth to younger than 18 years (mean: 15.2 years), 58% were female, 55% were race other than White, 75% had infantile nystagmus syndrome, 17% had neurologically significant nystagmus, 7% had fusion maldevelopment nystagmus syndrome, 64% had strabismus, 56% had an anomalous head posture, 94% had a significant refractive error, 64% had an associated ophthalmic abnormality (excluding ametropia), and 45% had an associated systemic condition. Special testing showed abnormalities in 67% and 95% had treatment directed at their nystagmus. CONCLUSIONS: The most common diagnosis in this cohort is neurologically non-significant infantile nystagmus syndrome. Eye movement recordings provide a path toward accurate diagnosis and classification. There was a high prevalence of underlying ocular and/or systemic conditions requiring ophthalmic special testing as part of a diagnostic routine. Clinical treatments are available to most patients. [J Pediatr Ophthalmol Strabismus. 2023;60(6):406-410.].


Assuntos
Anormalidades do Olho , Nistagmo Patológico , Erros de Refração , Estrabismo , Criança , Humanos , Feminino , Adolescente , Masculino , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/epidemiologia , Movimentos Oculares , Estrabismo/diagnóstico , Estrabismo/epidemiologia , Estrabismo/complicações , Anormalidades do Olho/complicações , Erros de Refração/complicações , Demografia
8.
Brain ; 134(Pt 3): 892-902, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21303855

RESUMO

Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280 s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted FRMD7 expression in neuronal tissue with strong hybridization signals within the afferent arms of the vestibulo-ocular reflex consisting of the otic vesicle, cranial nerve VIII and vestibular ganglia. Similarly within the afferent arm of the optokinetic reflex we showed expression in the developing neural retina and ventricular zone of the optic stalk. Strong FRMD7 expression was seen in rhombomeres 1 to 4, which give rise to the cerebellum and the common integrator site for both these reflexes (vestibular nuclei). Based on the expression and phenotypic data, we hypothesize that periodic alternating nystagmus arises from instability of the optokinetic-vestibular systems. This study shows for the first time that mutations in FRMD7 can cause idiopathic infantile periodic alternating nystagmus and may affect neuronal circuits that have been implicated in acquired forms.


Assuntos
Proteínas do Citoesqueleto/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Proteínas de Membrana/genética , Mutação/genética , Nistagmo Patológico/genética , Encéfalo/embriologia , Encéfalo/metabolismo , Encéfalo/patologia , Estudos de Coortes , Análise Mutacional de DNA , Saúde da Família , Feminino , Feto , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Nistagmo Optocinético/genética , Nistagmo Optocinético/fisiologia , Nistagmo Patológico/patologia , Músculos Oculomotores/fisiopatologia , Fenótipo , Reflexo Vestíbulo-Ocular/genética , Canais Semicirculares/patologia , Canais Semicirculares/fisiopatologia
9.
J Binocul Vis Ocul Motil ; 72(3): 113-130, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35579534

RESUMO

The last 40 years of clinical experience and investigation of nystagmus in infancy and childhood have resulted in a clearer understanding and characterization of the disorder and provided guidelines for the beneficial effects of increased medical, optical, and surgical treatments. Our modern understanding is due to the results of contribution by scientists and clinicians representing vision, neurology, bioengineering, genetics, and pediatrics. From this group, a new classification system was developed. The routine use of eye-movement recordings (EMR) and its characteristics have made the largest contribution to this increased knowledge. The value of EMR is due to the observation of specific waveforms, which are the basis for classification, neuro-pathophysiology, effect on vision, and a measure of nystagmus response to treatment. Successful treatment of the visual system is now directed toward associated afferent system abnormalities (decreased acuity, amblyopia, ametropia, retinal and optic pathway disease, and photophobia), centrally at the neuronal level responsible for the oscillations (oral and topical medications) and peripherally to reduce the underlying oscillation (eye-muscle surgery and botulinum toxin). Evidence over the last 40 years has shown that these treatments result in increased spatial acuity, contrast sensitivity, visual recognition time, motion processing, gaze-dependent visual acuity, and anomalous head posturing. The hope of this review is that clinicians now provide hope for these patients and families and can be counseled that nystagmus treatment is available.


Assuntos
Ambliopia , Nistagmo Patológico , Criança , Movimentos Oculares , Humanos , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/terapia , Músculos Oculomotores , Acuidade Visual
10.
J Neuroophthalmol ; 31(3): 228-33, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21709585

RESUMO

BACKGROUND: Recent advances in infantile nystagmus syndrome (INS) surgery have uncovered the therapeutic importance of proprioception. In this report, we test the hypothesis that the topical carbonic anhydrase inhibitor (CAI) brinzolamide (Azopt) has beneficial effects on measures of nystagmus foveation quality in a subject with INS. METHODS: Eye movement data were taken, using a high-speed digital video recording system, before and after 3 days of the application of topical brinzolamide 3 times daily in each eye. Nystagmus waveforms were analyzed by applying the eXpanded Nystagmus Acuity Function (NAFX) at different gaze angles and determining the longest foveation domain (LFD) and compared to previously published data from the same subject after the use of a systemic CAI, contact lenses, and convergence and to other subjects before and after eye muscle surgery for INS. RESULTS: Topical brinzolamide improved foveation by both a 51.9% increase in the peak value of the NAFX function (from 0.395 to 0.600) and a 50% broadening of the NAFX vs Gaze Angle curve (the LFD increased from 20° to 30°). The improvements in NAFX after topical brinzolamide were equivalent to systemic acetazolamide or eye muscle surgery and were intermediate between those of soft contact lenses or convergence. Topical brinzolamide and contact lenses had equivalent LFD improvements and were less effective than convergence. CONCLUSIONS: In this subject with INS, topical brinzolamide resulted in improved-foveation INS waveforms over a broadened range of gaze angles. Its therapeutic effects were equivalent to systemic CAI. Although a prospective clinical trial is needed to prove efficacy or effectiveness in other subjects, an eyedrops-based therapy for INS may emerge as a viable addition to optical, surgical, behavioral, and systemic drug therapies.


Assuntos
Ondas Encefálicas/efeitos dos fármacos , Ondas Encefálicas/fisiologia , Inibidores da Anidrase Carbônica/administração & dosagem , Nistagmo Patológico/tratamento farmacológico , Soluções Oftálmicas/uso terapêutico , Sulfonamidas/administração & dosagem , Tiazinas/administração & dosagem , Idoso , Humanos , Masculino , Nistagmo Patológico/congênito , Músculos Oculomotores/efeitos dos fármacos , Músculos Oculomotores/inervação , Nervo Oftálmico/efeitos dos fármacos , Resultado do Tratamento
11.
Clin Exp Ophthalmol ; 39(1): 37-46, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20662845

RESUMO

BACKGROUND: The study of the clinical and electrophysiological effects of eye muscle surgery on patients with infantile nystagmus has broadened our knowledge of the disease and its interventions. DESIGN: Prospective, comparative, interventional case series. PARTICIPANTS: Twenty-four patients with a vertical head posture because of electrophysiologically diagnosed infantile nystagmus syndrome. The ages ranged from 2.5 to 38 years and follow up averaged 14.0 months. METHODS: Thirteen patients with a chin-down posture had a bilateral superior rectus recession, inferior oblique myectomy and a horizontal rectus recession or tenotomy. Those 11 with a chin-up posture had a bilateral superior oblique tenectomy, inferior rectus recession and a horizontal rectus recession or tenotomy. MAIN OUTCOME MEASURES: Outcome measures included: demography, eye/systemic conditions and preoperative and postoperative; binocular, best optically corrected, null zone acuity, head posture, null zone foveation time and nystagmus waveform changes. RESULTS: Associated conditions were strabismus in 66%, ametropia in 96%, amblyopia in 46% and optic nerve, foveal dysplasia or albinism in 54%. Null zone acuity increased at least 0.1 logMAR in 20 patients (P < 0.05 group mean change). Patients had significant (P < 0.05) improvements in degrees of head posture, average foveation time in milliseconds and infantile nystagmus syndrome waveform improvements. CONCLUSIONS: This study illustrates a successful surgical approach to treatment and provides expectations of ocular motor and visual results after vertical head posture surgery because of an eccentric gaze null in patients with infantile nystagmus syndrome.


Assuntos
Nistagmo Congênito/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Postura , Adolescente , Adulto , Criança , Pré-Escolar , Movimentos Oculares , Cabeça , Humanos , Nistagmo Congênito/fisiopatologia , Músculos Oculomotores/fisiopatologia , Estudos Prospectivos , Tenotomia , Resultado do Tratamento , Visão Binocular/fisiologia , Acuidade Visual/fisiologia , Adulto Jovem
12.
Surv Ophthalmol ; 66(3): 531-542, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32918933

RESUMO

Medicine has a six-fold role to play in war, 1) selection of suitable military personnel, 2) to protect against disease, 3) to give medical attention and treatment to those who are ill and injured, 4) to assist in the rehabilitation of the disabled, 5) research to improve etiology and treatments of disease, and 6) the unit surgeon serves as a special staff officer to the military commander at all levels of a battalion and above, along with the attorney and chaplain, and supplies medical input into all plans whether it be training or combat operations. This article focuses on the realization by soldiers, since antiquity, the importance of the visual system in battle, how this was measured, and how modern military visual requirements have evolved along with the science of ophthalmology. Necessity and natural selection were the driving forces for recruitment and assignment in ancient and medieval armies. Since the advent of mechanized warfare, more soldiers can perform more tasks, more uniformly, radically changing the way soldiers are selected. Modern military duty eligibility requirements and assignments are now the result of special tests and documentation procedures resulting from a mixture of medical knowledge, science, and potential legal consequences. Nowhere is this more evident in the stringent visual system requirements for military service.


Assuntos
Medicina Militar , Militares , Humanos , Medicina Militar/história , Medicina Militar/métodos , Militares/história , Guerra
13.
J AAPOS ; 25(3): 145.e1-145.e5, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34087474

RESUMO

PURPOSE: To investigate anomalous head posturing in patients with INS. METHODS: This was a prospective, cohort analysis of clinical and anomalous head posture (AHP) data in 34 patients with INS and an AHP. Particular outcome measures included measurement of AHP in three dimensions of pitch (anterior posterior flexion/extension), yaw (lateral rotation), and roll (lateral flexion) during best-corrected binocular acuity testing and during their subjective sense of straight. Patients were also queried as to their subjective sense of head posture in forced straight position and in their preferred AHP. The paired t test was used to determine significance in differences between measures. RESULTS: A total of 34 patients (19 males [56%]) 9-56 years of age (mean, 16.5 ± 6) were included. Associated systemic or ocular system deficits were present in 30 patients (88%). AHP during best-corrected visual acuity testing averaged 16.5° ± 8.20° (range, 10°-51°), which was significantly different from the mean voluntary "comfortable" position only in the pitch and roll directions (P < 0.001). There was a significant noncongruous response during subjective response to head posturing with most sensing their head as "crooked" (76.5%) when manually straightened (P = 0.001). CONCLUSIONS: The clinical AHP of patients with INS exists in all three spatial dimensions of pitch, yaw, and roll. Although the visual system may be causally related to the onset, amount, and direction of a compensatory AHP in patients with INS, its persistence over time or after surgical intervention is likely due to a combination of visual system (eg, nystagmus, strabismus) and nonvisual system (egocentric and musculo-skeletal) factors.


Assuntos
Nistagmo Patológico , Músculos Oculomotores , Cabeça , Humanos , Masculino , Nistagmo Patológico/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Estudos Prospectivos , Acuidade Visual
14.
J Pediatr Ophthalmol Strabismus ; 58(2): 93-104, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34038269

RESUMO

PURPOSE: To characterize the effects of eye muscle surgery on patients older than 18 years with infantile nystagmus syndrome (INS) who have had only optical treatment. METHODS: This was a prospective, single-center, interventional case series analysis of clinical and electro-phyisological data before and after surgery. Outcome measures included: clinical characteristics, surgical procedure, and preoperative and postoperative binocular best corrected visual acuity (BCVA) in the null position, anomalous head posture (AHP), contrast sensitivity, strabismic deviation, and nystagmus acuity function (NAFX). Postoperative data used were collected for a minimum of 12 months after surgery. Parametric and non-parametric statistical analysis of the outcome measures was performed. RESULTS: Ages ranged from 18 to 72 years (average: 36 years) and follow-up from 12 to 74 months (average: 26 months). A surgical algorithm of nine separate procedures involving at least two recti muscles on each eye was used for each patient. Most patients had associated systemic and/or ocular diagnoses, including albinism (35%), amblyopia (23%), optic nerve or retinal disorders (48%), refractive error (80%), AHP (44%), aperiodicity (27%), and strabismus (69%). There were no serious surgical complications, with a reoperation rate of 12%. There were significant group mean increases in BVCA, AHP, contrast sensitivity, strabismic deviation, and NAFX after surgery. Sixty percent of patients who were legally ineligible for driving prior to surgery became eligible after eye muscle surgery. CONCLUSIONS: Adult patients with INS showed sustained improvement in many afferent and efferent measures of visual function after eye muscle surgery. [J Pediatr Ophthalmol Strabismus. 2021;58(2):93-104.].


Assuntos
Movimentos Oculares , Nistagmo Patológico , Adulto , Criança , Pré-Escolar , Humanos , Lactente , Nistagmo Patológico/cirurgia , Músculos Oculomotores/cirurgia , Estudos Prospectivos , Acuidade Visual
15.
Binocul Vis Strabismus Q ; 25(2): 72-93, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20608897

RESUMO

PURPOSE: To report a systematic approach to, and the visual and electrophysiological effect of, eye muscle surgery in 100 patients with infantile nyustagmus syndrome (INS). METHODS: Prospective, interventional case cohort analysis of clinical and eye movement data in 100 patients with INS who had virgin extraocular eye muscles operated on for nystagmus with or without combinations of strabismus and an anomalous head posture. All patients were followed at least 9 months after surgery. Outcome measures, part of an IRB approved study, included binocular visual acuity, head position, strabismic deviation, and eye movement recordings, from which waveform types and an Automated Nystagmus Acuityn Function (ANAF) was calculated. Computerized parametric and non-parametric statistical analysis of data were performed using standard software on both individual and group data. RESULTS: There were 9 consistent surgical procedures used with the most common being that for a horizontal head posture alone (22%). Age at surgery averaged 14 years with 11 months followup. Sixty-eight percent had associated eye disease (optic nerve, retinal, amblyopia, cataracts). Group means in binocular acuity, strabismic deviation, head posture, abd ANAF measures from eye improved for all procedures. There were 12 (12%) reoperations without any serious surgical complications. Individual analysis revealed only age and head posture differences in outcome measures between the 9 procedures. CONCLUSIONS: Using this approach, surgery on the extraocular muscles in patients with INS results in improvements in multiple aspects of ocular motor and visual function.


Assuntos
Nistagmo Congênito/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Adolescente , Adulto , Criança , Pré-Escolar , Movimentos Oculares , Feminino , Seguimentos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Nistagmo Congênito/fisiopatologia , Músculos Oculomotores/fisiopatologia , Postura , Estudos Prospectivos , Estrabismo/fisiopatologia , Visão Binocular/fisiologia , Acuidade Visual/fisiologia , Adulto Jovem
16.
Indian J Ophthalmol ; 68(10): 2190-2195, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32971638

RESUMO

PURPOSE: To determine the ocular and systemic safety of using topical Lambda-Cyhalothrin (LCL) in a canine model of infantile nystagmus syndrome (INS). The rationale for this proposal is based on a case study of a patient whose INS improved after inadvertent ocular exposure to a pyrethroid pesticide containing LCL. METHODS: After in-vitro safety testing and IUCAC approval, we studied increasing concentrations of topical LCL drops (0.002% to 0.07%) in canines with a purposely bred defect in the RPE65 gene resulting in both retinal degeneration and INS. We collected data on ocular and systemic effects and performed eye-movement recordings (EMR). RESULTS: At the 0.07% concentration dose of LCL, there was minimal, reversible, conjunctival hyperemia. There was no other ocular or systemic toxicity. At the 0.06% dose, there was a visible decrease in the INS and EMR showed a 153%-240% increase in the nystagmus acuity function and a 30%-70% decrease in amplitude across gaze. There was also a 40%-60% decrease in intraocular pressure while on the drop in both eyes. CONCLUSION: This animal study suggests this new pharmacological agent has potential for topical treatment of both INS and diseases with raised intraocular pressure. Further, this new treatment approach confirms the importance of extraocular muscle proprioception in ocular motor diseases and their treatment.


Assuntos
Nistagmo Congênito , Nistagmo Patológico , Piretrinas , Animais , Cães , Movimentos Oculares , Humanos , Nitrilas , Nistagmo Congênito/tratamento farmacológico , Nistagmo Patológico/tratamento farmacológico
17.
J Pediatr Ophthalmol Strabismus ; 46(2): 93-103, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19343971

RESUMO

BACKGROUND: This study identifies the clinical and ocular motility characteristics of the periodic and aperiodic forms of infantile alternating nystagmus (IAPAN) and establishes the range of electrophysiological and clinical characteristics while providing clues to its presence and pathophysiology. METHODS: Seventy-eight patients with ocular oscillations consistent with IAPAN were reported. Outcome variables were: age, follow-up in months, vision, strabismus, other eye and systemic abnormalities, head position, periodicity, cycle and null period duration, foveation time, waveforms, and cycle symmetry. RESULTS: Age range was 1 to 67 years, 50% had pure periodic and aperiodic forms, 46% had albinism, 26% had binocular acuity of 20/40 or greater, 72% had strabismus, 35% had amblyopia, 31% had other eye disease, 14% had systemic disease, 87% had an anomalous head posture, and 65% had binocular directional asymmetry. The periodic cycle averaged 224 seconds and the aperiodic cycle ranged from 2 to more than 300 seconds. One in three patients with strabismus and nystagmus periodicity had a static head posture. CONCLUSION: Fifteen percent of the infantile nystagmus syndrome population had either the periodic or aperiodic form. A changing null period is often clinically missed because of long or irregular cycles, decreased acuity, associated strabismus, and either a nonexistent or inconsistent head posture. The changing null period is easier to recognize using eye movement recordings or if the non-preferred eye is occluded and the preferred eye is examined with the head straight and gaze in primary position for at least 5 to 7 minutes. The recognition of this variant has profound treatment implications.


Assuntos
Nistagmo Patológico/complicações , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Eletronistagmografia , Potenciais Evocados Visuais/fisiologia , Movimentos Oculares/fisiologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/fisiopatologia
18.
Indian J Ophthalmol ; 67(1): 109-115, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30574904

RESUMO

PURPOSE: To test the hypothesis that eye muscle surgery in treatment of patients with acquired downbeat nystagmus results in improvement measures of visual and ocular motor function. METHODS: This is a prospective, interventional case series analysis of clinical and electrophyisological data before and after eye muscle surgery in 17 patients with acquired downbeat nystagmus who did not respond to medical treatments. Outcome measures included: 1) routine demography and clinical characteristics, 2) subjective oscillopsia (SO), 3) binocular best-corrected visual acuity in the null position (BVA), 3) primary position strabismic deviation (SD), 5) anomalous head posture (AHP), 6) contrast sensitivity function (CS), and 7) nystagmus slow phase velocity (SPV). All patients were followed at least 12 months. Parametric and non-parametric statistical analysis of outcome measure data above pre- and post-treatment were perfomed using standard software on grouped data using computerized software. RESULTS: Patients' age ranged from 5 to 85 years (average 27 years). About 59% were male. Follow up ranged from 1-10 years (average 2.0 years). Around 70% had an associated central nervous systemic diagnosis, 100% had an AHP, oscillopsia and decreased CS, 53% had other eye disease, and 59% had strabismus. There were no complications from surgery. There were signficant post-treatment improvements in mean/median group BVA, SO, SD, AHP, CS, and SPV. CONCLUSION: This study supports the hypothesis that eye muscle surgery as treatments for patients with acquired downbeat nystagmus can result in improvements in multiple aspects of ocular motor and visual functions.


Assuntos
Fenômenos Eletrofisiológicos/fisiologia , Movimentos Oculares/fisiologia , Nistagmo Patológico/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Visão Binocular/fisiologia , Acuidade Visual , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/fisiopatologia , Músculos Oculomotores/fisiopatologia , Estudos Prospectivos , Adulto Jovem
19.
J Refract Surg ; 35(8): 534-537, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31393992

RESUMO

PURPOSE: To describe a patient with chronic periocular pain after bilateral photorefractive keratectomy (PRK) and ocular neuralgia that was controlled with regular orbital steroid and anesthetic injections. METHODS: Case report. RESULTS: A 21-year-old man presented 3 months following bilateral PRK surgery in severe bilateral orbital pain. Previous treatments included topical (artificial tears, corticosteroids, and nonsteroidal anti-inflammatory drugs [NSAIDs) and oral (NSAIDs, opioids, and pregabalin) therapies with minimal pain relief. A bilateral orbital triamcinolone acetonide 40 mg/cc and 0.25% bupivacaine injection was done after a successful, diagnostic unilateral 0.25% bupivacaine injection. Following bilateral bupivacaine and triamcinolone acetonide injections, pain intensity improved from 7 of 9 to 1 of 3 out of 10. Repeat injections have been regularly performed over the past 3 years, allowing the patient to experience improved symptoms lasting from 4 to 9 months. CONCLUSIONS: In this case, orbital nerve blocks provided relief and may be considered as a potential treatment for orbital neuralgia after refractive surgery. [J Refract Surg. 2019;35(8):534-537.].


Assuntos
Anestésicos Locais/uso terapêutico , Bupivacaína/uso terapêutico , Dor Ocular/tratamento farmacológico , Glucocorticoides/uso terapêutico , Neuralgia/tratamento farmacológico , Doenças Orbitárias/tratamento farmacológico , Ceratectomia Fotorrefrativa/efeitos adversos , Triancinolona Acetonida/uso terapêutico , Dor Ocular/etiologia , Humanos , Injeções Intraoculares , Masculino , Neuralgia/etiologia , Doenças Orbitárias/etiologia , Adulto Jovem
20.
J Glaucoma ; 28(7): 655-659, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30950965

RESUMO

PRECIS: Glaucoma suspect was the most prevalent category in this study followed by glaucoma associated with acquired ocular anomaly and juvenile open-angle glaucoma. Primary congenital glaucoma was diagnosed in only 3% of the population studied. PURPOSE: To describe the prevalence and clinical characteristics of childhood glaucoma diagnosed over a 10-year period among patients aged 18 years or below who were seen at a tertiary care children's hospital using the new Childhood Glaucoma Research Network classification system. METHODS: Medical records of all patients aged 18 years or below (n=108) who were diagnosed with glaucoma between January 1, 2008 through September 30, 2018 were reviewed. Data collected included demographics (age at diagnosis, sex, and family history of glaucoma), intraocular pressure, disc-to-cup ratio, retinal nerve fiber layer thickness, and refractive errors. Clinical characteristics of each patient were evaluated according to the criteria established by Childhood Glaucoma Research Network. Categorical distributional equivalence comparisons were performed using the Pearson χ test. A P-value <0.05 was defined as statistically significant. RESULTS: A total of 108 patients with a diagnosis of childhood glaucoma or glaucoma suspect were included in this study. Sixty-four percent of these patients were males (P<0.0001). The mean age at the time of diagnosis was 7.07±5.4 years. "Glaucoma suspect" was the most prevalent category (46%, P=0.0002), followed by glaucoma associated with the acquired ocular anomaly (20%) and juvenile open-angle glaucoma (16%). Primary congenital glaucoma represented 3% and all these patients were males. Sixty-nine percent of the patients had bilateral involvement (P=0.0073). The highest intraocular pressure recorded in the study was 57 mm Hg, the largest cup-to-disc ratio was 0.96, and the lowest retinal nerve fiber layer measurement was 39 µm. Ninety-two percent of the patients had refractive errors and 85% of them had astigmatism. CONCLUSIONS: Establishing a pattern and the associated clinical characteristics of childhood glaucoma at tertiary care children's hospitals will help in developing collaborative research efforts and effective treatment/management strategies for children with these rare groups of disorders.


Assuntos
Glaucoma/diagnóstico , Glaucoma/epidemiologia , Adolescente , Idade de Início , Astigmatismo/complicações , Astigmatismo/diagnóstico , Astigmatismo/epidemiologia , Astigmatismo/terapia , Criança , Pré-Escolar , Feminino , Glaucoma/complicações , Glaucoma/terapia , Humanos , Lactente , Masculino , Hipertensão Ocular/complicações , Hipertensão Ocular/diagnóstico , Hipertensão Ocular/epidemiologia , Hipertensão Ocular/terapia , Prevalência , Erros de Refração/complicações , Erros de Refração/diagnóstico , Erros de Refração/epidemiologia , Erros de Refração/terapia , Estudos Retrospectivos , Atenção Terciária à Saúde , Tonometria Ocular , Resultado do Tratamento
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