RESUMEN
There has been an increased understanding of the protective effect of two or more hours in high lux light on the development and progression of myopia. The aim of myopia management is to reduce the incidence of high myopia and sight-threatening myopic complications. Equally important are the sight-threatening complications of ultraviolet radiation (UVR) on the eye and adnexal structures. This review will analyze the literature for both these epidemics to help guide public health policy. Whilst increasing childhood high lux light exposure is important, consideration of a holistic eye health policy should ensure that UV eye diseases are also prevented. The advent of ultraviolet (UV) fluorescence photography has increased our understanding that significant UV eye damage occurs in childhood, with 81% of children aged 12-15 years having signs of UV eye damage. Hence, the need to reduce myopia and protect from UV-related eye diseases needs simultaneous consideration. Advocating for eye protection is important, particularly as the natural squint reflex is disabled with dark sunglasses lenses. The pathways UV reaches the eye need to be considered and addressed to ensure that sunglasses offer optimum UV eye protection. The design of protective sunglasses that simultaneously allow high lux light exposure and protect from UVR is critical in combating both these epidemics.
RESUMEN
PURPOSE: Identifying axial length growth rate as an indicator of fast progression before initiating atropine 0.01% for myopia progression in children. METHOD: From baseline, axial length growth over six months was measured prospectively. Subjects were then initiated on atropine 0.01% if axial length growth was greater than 0.1mm per 6 months (fast progressors), axial length and spherical equivalent change measurements recorded every six months. The rate of change was compared to the baseline pre-treatment rate. If axial length change was below the threshold, subjects received monitoring only. RESULTS: 73 subjects were identified as fast progressors and commenced atropine 0.01%, (mean baseline refraction of OD -2.9±1.6, OS -2.9±1.8 and a mean baseline axial length OD 24.62 ± 1.00 mm, OS 24.53 ± 0.99 mm). At six months, the mean paired difference of axial length growth rate was significantly reduced by 50% of baseline (all 73 subjects, p<0.05). 53 subjects followed to 12 months, and 12 to 24 months maintained a reduced growth rate. Change in mean spherical equivalent was significantly reduced compared to pre-treatment refractive error (mean paired difference p<0.05) and at each subsequent visit. 91 children were slow progressors and remained untreated. Their axial length growth rate did not change significantly out to 24 months. Spherical equivalent changed less than -0.5D annually in this group. CONCLUSION: Identifying fast progressors before treatment initiation demonstrated a strong treatment effect with atropine 0.01% reducing their individual rate of myopia progression by 50%. Another large group of myopic children, slow progressors, continued without medical intervention. A baseline axial length growth rate is proposed as a guideline to identify fast progressors who are more likely to benefit from atropine 0.01%.
Asunto(s)
Atropina , Miopía Degenerativa , Niño , Progresión de la Enfermedad , Humanos , Midriáticos , Refracción OcularRESUMEN
BACKGROUND: X-linked retinoschisis (XLRS) is a leading cause of juvenile macular degeneration associated with mutations in the RS1 gene. XLRS has a variable expressivity in males and shows no clinical phenotype in carrier females. DESIGN: Clinical and molecular characterization of male and female individuals affected with XLRS in a consanguineous family. PARTICIPANTS: Consanguineous Eastern European-Australian family METHODS: Four clinically affected and nine unaffected family members were genetically and clinically characterized. Deoxyribonucleic acid (DNA) analysis was conducted by the Australian Inherited Retinal Disease Register and DNA Bank. MAIN OUTCOME MEASURES: Clinical and molecular characterization of the causative mutation in a consanguineous family with XLRS. RESULTS: By direct sequencing of the RS1 gene, one pathogenic variant, NM_000330.3: c.304C > T, p. R102W, was identified in all clinically diagnosed individuals analysed. The two females were homozygous for the variant, and the males were hemizygous. CONCLUSION: Clinical and genetic characterization of affected homozygous females in XLRS affords the rare opportunity to explore the molecular mechanisms of XLRS and the manifestation of these mutations as disease in humans.
Asunto(s)
Proteínas del Ojo/genética , Mutación , Retinosquisis/genética , Niño , Consanguinidad , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Retinosquisis/diagnóstico , Adulto JovenRESUMEN
BACKGROUND: Several retinal dystrophies are associated with syndromic features including such conditions as Bardet-Biedl and Joubert syndromes. Cohen syndrome is an autosomal recessive disorder associated with multiple clinical manifestations including developmental delay, acquired microcephaly, myopia, pigmentary retinopathy, joint hypermobility, truncal obesity, friendly disposition and intermittent neutropenia. In young patients, diagnosis is difficult, because several of the characteristic features may not be present until school age or later years and the intermittent neutropenia is not always detectable. DESIGN: This was a prospective study using whole exome sequencing in syndromic retinal dystrophy. It was undertaken in a hospital and research institute setting. PARTICIPANTS: Participants in this study were members of a consanguineous Australian family of Lebanese ethnicity with two siblings with retinal dystrophy, microcephaly and developmental delay. METHODS: Detailed clinical evaluation was undertaken. Whole exome capture and sequencing of patient genomic DNA samples was followed by sequence alignment, variant detection, comparison and prioritization. MAIN OUTCOME MEASURES: Pathogenic variant identification in the disease-causing gene in affected individuals. RESULTS: We identified a novel homozygous deletion leading to a frameshift mutation in VPS13B, c.11327del, p.(Asn3776Thrfs*102), the disease gene associated with Cohen syndrome. CONCLUSIONS: This report emphasizes the value of a broad-based whole exome sequencing approach in disease gene identification in the syndromic retinal dystrophies, where all disease characteristics may not be present in young patients to allow a clinical diagnosis. This facilitates improved prognostic and genetic information for patients and families.
Asunto(s)
Exoma/genética , Dedos/anomalías , Mutación del Sistema de Lectura , Discapacidad Intelectual/diagnóstico , Microcefalia/diagnóstico , Hipotonía Muscular/diagnóstico , Miopía/diagnóstico , Obesidad/diagnóstico , Distrofias Retinianas/diagnóstico , Análisis de Secuencia de ADN , Proteínas de Transporte Vesicular/genética , Niño , Preescolar , Consanguinidad , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Masculino , Microcefalia/genética , Hipotonía Muscular/genética , Miopía/genética , Obesidad/genética , Linaje , Estudios Prospectivos , Degeneración Retiniana , Distrofias Retinianas/genética , Eliminación de Secuencia , HermanosRESUMEN
Scedosporium prolificans is an opportunistic fungus with a predilection for sepsis and endophthalmitis in immunocompromised patients. We report a case of endogenous S. prolificans endophthalmitis in a 9-year-old girl following chemotherapy for acute myeloid leukemia. She achieved an excellent visual outcome following intensive antifungal therapy.
Asunto(s)
Endoftalmitis/microbiología , Infecciones Fúngicas del Ojo/microbiología , Scedosporium/aislamiento & purificación , Antifúngicos/uso terapéutico , Niño , Endoftalmitis/tratamiento farmacológico , Infecciones Fúngicas del Ojo/tratamiento farmacológico , Femenino , Humanos , Huésped Inmunocomprometido , Resultado del TratamientoRESUMEN
To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Australia. Nystagmus or roving eye movements were the most common ophthalmologic manifestations as a presenting symptom of disease (13/20) and were the sole manifestation at presentation in 10/13 patients. Divergent strabismus was a presenting symptom in 5/20 patients and was the sole manifestation at presentation in 3/20 patients. Abnormal eye movements were noted in 6 patients and strabismus was noted in 4 patients with Leigh's or Leigh-like disease; in 9 of these 10 patients, Leigh's disease was the result of complex I deficiency. Altogether, ophthalmologic manifestations were noted at presentation in 12/35 patients with complex I deficiency. External ophthalmoplegia in conjunction with ptosis was the presenting symptom in 3/20 patients, all with Kearns-Sayers syndrome. Patients suspected of having oxidative phosphorylation disorders should be referred for ophthalmologic examination. Prospective studies are needed for a comprehensive elucidation of the ophthalmologic findings in these disorders.
Asunto(s)
Oftalmopatías/diagnóstico , Enfermedades Mitocondriales/diagnóstico , Niño , Estudios de Cohortes , ADN/genética , Oftalmopatías/etiología , Movimientos Oculares , Humanos , Recién Nacido , Síndrome de Kearns-Sayre/diagnóstico , Enfermedad de Leigh/diagnóstico , Enfermedades Mitocondriales/complicaciones , Enfermedades Mitocondriales/genética , Oftalmoplejía/diagnóstico , Oftalmoplejía/etiología , Población , Estudios Retrospectivos , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Estrabismo/etiología , Victoria/epidemiologíaRESUMEN
Carotid artery disease has long been implicated in ocular ischaemic syndrome. The classical changes of ocular ischaemic syndrome have not been described to resolve with carotid endarterectomy. Herein, a case of documented carotid artery disease presenting with anterior segment ischaemia and retinal artery emboli is described. Prompt carotid endarterectomy resulted in resolution of most of the anterior segment ischaemic signs within a few days.
Asunto(s)
Segmento Anterior del Ojo/irrigación sanguínea , Arteria Carótida Interna/cirugía , Estenosis Carotídea/cirugía , Endarterectomía Carotidea , Isquemia/fisiopatología , Anciano , Arteria Carótida Interna/patología , Estenosis Carotídea/diagnóstico , Edema Corneal/fisiopatología , Humanos , Imagen por Resonancia Magnética , Masculino , SíndromeRESUMEN
PURPOSE: To document the presentation and management of congenital III nerve palsy and monocular elevation deficiency to single ophthalmologist over a 14-year period. Surgical management was reviewed and visual outcome was analysed. METHODS: A retrospective study was conducted of all patients presenting during a period between 1992 and 2006 to the private practice of a paediatric ophthalmologist, with either congenital III or monocular elevation deficiency. For patients requiring surgical intervention pre- and post-surgical data were documented and analysed. RESULTS: A total of 19 congenital III and 13 monocular elevation deficiency patients were identified. There were eight surgical patients in each congenital III nerve palsy group and in the monocular elevation deficiency group. The congenital III group had a preoperative mean exotropia for near of -36 prism dioptres (PD) compared with postoperative mean exotropia for near -16 PD. Preoperative mean hypotropia for near of -19 PD was improved to postoperative mean hypotropia of -5 PD. The monocular elevation deficiency group had preoperative mean esotropia for near of +6 PD compared with postoperative mean exotropia for near -5 PD. Preoperative mean hypotropia for near of -15 PD was improved to postoperative mean hypotropia of -7 PD. At last follow up both groups had a majority of mild or no amblyopia noted. CONCLUSION: Superficially, congenital III and monocular elevation deficiency may appear similar, both frequently having ptosis and hypotropia as features. Careful clinical assessment of the horizontal alignment and the result of forced duction testing will usually allow them to be distinguished. Congenital III more frequently requires surgery for exotropia as well as surgery for hypotropia and monocular elevation deficiency more often requires surgery just for hypotropia. The ptosis surgery is similar for either diagnosis in this study. Significant cosmetic improvement, as well as excellent visual acuity outcomes can be achieved.
Asunto(s)
Enfermedades del Nervio Oculomotor/complicaciones , Enfermedades del Nervio Oculomotor/cirugía , Oftalmoplejía/etiología , Oftalmoplejía/cirugía , Visión Monocular , Niño , Preescolar , Diagnóstico Diferencial , Esotropía/etiología , Exotropía/etiología , Estudios de Seguimiento , Humanos , Lactante , Músculos Oculomotores/cirugía , Enfermedades del Nervio Oculomotor/congénito , Enfermedades del Nervio Oculomotor/diagnóstico , Procedimientos Quirúrgicos Oftalmológicos , Oftalmoplejía/congénito , Oftalmoplejía/diagnóstico , Periodo Posoperatorio , Estudios RetrospectivosRESUMEN
PURPOSE: A comparison of axial length estimates using applanation A-scan ultrasound and the Zeiss IOLMaster was conducted. The accuracy in predicting postoperative refraction determined by each method was also compared. METHODS: A cross-sectional study was performed on 51 eyes in 46 patients presenting to clinical practice for cataract surgery assessment. Preoperative measurement of axial length was performed with applanation ultrasound and the IOLMaster. The IOLMaster measurements were used to determine the intraocular lens power based on the SRK/T formula. Postoperative refractive outcomes were obtained and spherical equivalent calculated and compared to the predicted refractive error with each biometric method. RESULTS: On average the axial lengths measured by the IOLMaster were longer by 0.15 mm compared to ultrasound biometry (P < 0.01). Using the IOLMaster over applanation ultrasound biometry significantly improved the postoperative refractive outcome from 0.65 D to 0.42 D (P = 0.011). CONCLUSIONS: The IOLMaster provides an accurate axial length measurement and results in accurate intraocular lens power calculation based on the SRK/T formula. It is quick and easy to use and provides a non-contact technique with no risk of infection or corneal abrasion.