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1.
J AAPOS ; 25(4): 247-248, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34166818

RESUMO

We present the first case of rapid onset high myopia in early childhood as the presenting feature of Loeys-Dietz syndrome. The patient progressed from a normal degree of hyperopia (+2 diopter sphere [DS]) at 18 months of age to high myopia (-10 DS) 9 months later. Subsequent genetic testing revealed both her brothers and her father to carry the same TGFB3 pathogenic variant. This case aims to highlight the importance of considering systemic conditions in children with high myopia.


Assuntos
Hiperopia , Síndrome de Loeys-Dietz , Miopia , Criança , Pré-Escolar , Feminino , Humanos , Hiperopia/diagnóstico , Masculino , Miopia/diagnóstico , Miopia/genética
2.
BMC Ophthalmol ; 20(1): 76, 2020 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-32103740

RESUMO

BACKGROUND: The primary aim was to estimate the incidence of primary and secondary childhood glaucoma in Scotland over a 2-year period. The secondary aim was to gauge the confidence and experience of ophthalmologists in Scotland in managing these patients. METHODS: A 7 question electronic survey was distributed to all consultant members of the Scottish Paediatric Club and Scottish Glaucoma Club. Respondents were asked to report the number of cases and types of childhood glaucoma they had managed in the last 2 years. Respondents were also asked about experience and confidence in a range of glaucoma procedures, number of patients requiring referral to specialist centres and interest in the development of a centre of excellence in Scotland. RESULTS: The survey returned a 56% response rate, reporting 85 new cases of paediatric glaucoma in Scotland over the preceding 2 years. 11 (12.9%) had primary glaucoma and 74 (87.1%) had secondary glaucoma. The most common subtype of secondary glaucoma was uveitic glaucoma (n = 29). None of the respondents declared confidence or experience in trabeculotomy or goniotomy procedures. Eleven children required referral to a specialist unit outside Scotland. 85.7% of respondents felt Scotland would benefit from a specialist unit for paediatric glaucoma. CONCLUSIONS: This survey reflects an appetite for a specialist service for paediatric glaucoma in Scotland. However, further consideration is needed to determine if there is sufficient patient load to maintain such a service.


Assuntos
Glaucoma de Ângulo Aberto/epidemiologia , Hidroftalmia/epidemiologia , Criança , Pré-Escolar , Feminino , Implantes para Drenagem de Glaucoma , Glaucoma de Ângulo Aberto/diagnóstico , Glaucoma de Ângulo Aberto/terapia , Inquéritos Epidemiológicos , Humanos , Hidroftalmia/diagnóstico , Hidroftalmia/terapia , Incidência , Pressão Intraocular/fisiologia , Masculino , Padrões de Prática Médica/estatística & dados numéricos , Encaminhamento e Consulta , Escócia/epidemiologia , Inquéritos e Questionários , Trabeculectomia
3.
BMJ Case Rep ; 20182018 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-30115719

RESUMO

Paediatric cataracts can present a diagnostic dilemma to ophthalmologists. Next-generation DNA sequencing (NGS) has been promoted as a tool to expedite the diagnosis of an underlying cause in such cases.1 The authors present an unusual case of bilateral cataracts in an 11-year-old girl as the first presenting feature of new type 1 diabetes mellitus. Prompt diagnosis and subsequent management of this potentially life-threatening condition were achieved through careful history taking and targeted biochemical testing. The authors feel this case highlights the significance of simple measures such as thorough history taking in the assessment of paediatric cataracts. It is important that these skills are not lost through the availability of clinical tools such as NGS.


Assuntos
Catarata/etiologia , Diabetes Mellitus Tipo 1/complicações , Catarata/terapia , Extração de Catarata , Criança , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/diagnóstico , Feminino , Humanos , Anamnese
4.
Eye (Lond) ; 32(10): 1563-1573, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29880917

RESUMO

PURPOSE: To determine the ability of Saccadic Vector Optokinetic Perimetry (SVOP) to detect and characterise visual field defects in children with brain tumours using eye-tracking technology, as current techniques for assessment of visual fields in young children can be subjective and lack useful detail. METHODS: Case-series study of children receiving treatment and follow-up for brain tumours at the Royal Hospital for Sick Children in Edinburgh from April 2008 to August 2013. Patients underwent SVOP testing and the results were compared with clinically expected visual field patterns determined by a consensus panel after review of clinical findings, neuroimaging, and where possible other forms of visual field assessment. RESULTS: Sixteen patients participated in this study (mean age of 7.2 years; range 2.9-15 years; 7 male, 9 female). Twelve children (75%) successfully performed SVOP testing. SVOP had a sensitivity of 100% and a specificity of 50% (positive predictive value of 80% and negative predictive value of 100%). In the true positive and true negative SVOP results, the characteristics of the SVOP plots showed agreement with the expected visual field. Six patients were able to perform both SVOP and Goldmann perimetry, these demonstrated similar visual fields in every case. CONCLUSION: SVOP is a highly sensitive test that may prove to be extremely useful for assessing the visual field in young children with brain tumours, as it is able to characterise the central 30° of visual field in greater detail than previously possible with older techniques.


Assuntos
Neoplasias Encefálicas/complicações , Movimentos Sacádicos/fisiologia , Transtornos da Visão/diagnóstico , Testes de Campo Visual/métodos , Campos Visuais/fisiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Sensibilidade e Especificidade , Transtornos da Visão/fisiopatologia , Testes de Campo Visual/instrumentação
5.
Br J Ophthalmol ; 98(1): 124-8, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24158845

RESUMO

BACKGROUND/AIMS: Melanopsin-expressing photosensitive retinal ganglion cells form a blue-light-sensitive non-visual system mediating diverse physiological effects including circadian entrainment and cognitive alertness. Reduced blue wavelength retinal illumination through cataract formation is thought to blunt these responses while cataract surgery and intraocular lens (IOL) implantation have been shown to have beneficial effects on sleep and cognition. We aimed to use the reaction time (RT) task and the Epworth Sleepiness Score (ESS) as a validated objective platform to compare non-visual benefits of UV- and blue-blocking IOLs. METHODS: Patients were prospectively randomised to receive either a UV- or blue-blocking IOL, performing an RT test and ESS questionnaire before and after surgery. Optical blurring at the second test controlled for visual improvement. Non-operative age-matched controls were recruited for comparison. RESULTS: 80 participants completed the study. Those undergoing first-eye phacoemulsification demonstrated significant improvements in RT over control (p=0.001) and second-eye surgery patients (p=0.03). Moreover, reduced daytime sleepiness was measured by ESS for the first-eye surgery group (p=0.008) but not for the second-eye group (p=0.09). Choice of UV- or blue-blocking IOL made no significant difference to magnitude of cognitive improvement (p=0.272). CONCLUSIONS: Phacoemulsification, particularly first-eye surgery, has a strong positive effect on cognition and daytime alertness, regardless of IOL type.


Assuntos
Catarata/fisiopatologia , Cognição/fisiologia , Lentes Intraoculares , Opsinas de Bastonetes/fisiologia , Sono/fisiologia , Idoso , Ritmo Circadiano/fisiologia , Feminino , Humanos , Implante de Lente Intraocular , Luz , Masculino , Facoemulsificação , Estudos Prospectivos , Tempo de Reação/fisiologia , Análise de Regressão , Inquéritos e Questionários
7.
BMJ Case Rep ; 20122012 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-22669878

RESUMO

We report a case of re-activation of Toxoplasma gondii as a cause of atypical retinal necrosis in an immunocompetent individual. The rapid development of necrotising confluent retinochoroiditis and vitreous inflammation necessitated urgent aqueous humor PCR analysis, which was positive for T gondii. The patient was treated with two intravitreal injections of clindamycin, along with oral sulphadiazine, pyrimethamine, folinic acid and prednisolone. He developed central retinal arterial occlusion, as a complication of toxoplasmic retinochoroiditis, and immediate anterior chamber paracentesis was performed with visual recovery. The injection of intravitreal clindamycin with concomitant oral therapy was associated with control of toxoplasmic retinochoroiditis and resolution of vitreous inflammation.


Assuntos
Coriorretinite/diagnóstico , Clindamicina/administração & dosagem , Pirimetamina/administração & dosagem , Toxoplasma/isolamento & purificação , Toxoplasmose Ocular/diagnóstico , Adulto , Antibacterianos/administração & dosagem , Antimaláricos/administração & dosagem , Humor Aquoso/microbiologia , Coriorretinite/tratamento farmacológico , Coriorretinite/microbiologia , DNA Bacteriano/análise , Diagnóstico Diferencial , Quimioterapia Combinada , Humanos , Injeções Intravítreas , Masculino , Reação em Cadeia da Polimerase , Toxoplasma/genética , Toxoplasmose Ocular/tratamento farmacológico , Toxoplasmose Ocular/microbiologia
8.
Retin Cases Brief Rep ; 6(1): 1-3, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-25390696

RESUMO

PURPOSE: The purpose of this study was to describe a patient with an untreated rhegmatogenous retinal detachment, first diagnosed during pregnancy, that underwent spontaneous resolution after normal labor and childbirth. METHODS: Descriptive case report. RESULTS AND DISCUSSION: It has been extensively documented that normal labor and childbirth are safe in the context of rhegmatogenous retinal detachment. Although exudative retinal detachment is a well-known complication of preeclampsia, spontaneous reattachment of a rhegmatogenous retinal detachment is a rare phenomenon. In this case, labor-induced physiologic changes may have contributed to the resolution of the detachment.

9.
Br J Ophthalmol ; 95(12): 1656-9, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21951571

RESUMO

BACKGROUND/AIMS: Since 2002 the discovery of a novel population of intrinsically photosensitive retinal ganglion cells, expressing the photopigment melanopsin, has attracted broad interest in human blue-light mediated non-visual effects including circadian regulation and cognitive function. Ageing is associated with insomnia and cognitive decline. It has been postulated that reduced blue-light transmission through the formation of cataract impairs melanopsin dependant non-visual brain responses mediated by intrinsically photosensitive retinal ganglion cells. We aimed to establish if any objective improvement in cognition could be demonstrated using a reaction time task (RTT) following cataract surgery and intraocular lens implantation. METHODS: Following strict inclusion and exclusion criteria, 15 patients (age range 59-87, mean 75.4 years) with bilateral cataract performed the RTT before and after surgery on one eye. The mean and the SD of two modalities of reaction time, namely complex reaction time and simple reaction time, were measured and analysed. RESULTS: Responses became both quicker and more consistent following surgery, with statistically significant improvements in the complex reaction time (p=0.016) and the complex reaction time SD (p=0.055), which were not due to a learning effect or improved vision. CONCLUSION: The results suggest that improved blue-light transmission following cataract surgery has a beneficial effect on cognitive function. We advocate the RTT as an objective platform for exploring these benefits in large sample randomised controlled trials.


Assuntos
Extração de Catarata/métodos , Catarata/fisiopatologia , Cognição , Luz , Tempo de Reação , Idoso , Idoso de 80 Anos ou mais , Catarata/psicologia , Catarata/reabilitação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Inquéritos e Questionários , Acuidade Visual
10.
Sleep Med Rev ; 15(2): 107-13, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21036633

RESUMO

The process of photoentrainment, through the activation of photoreceptor transduction cascades, influences the circadian physiology of many life forms from primitive invertebrates to primates. In humans, a population of intrinsically photosensitive retinal ganglion cells (ipRGC's) is responsible for mediating the circadian rhythm and is susceptible to primary dysfunction affecting this cell population specifically, or disorders influencing light activation of retinal ganglion photoreceptors. The former may arise through cell depletion in conditions such as inherited or acquired optic neuropathies or conditions like Parkinson's disease which may alter retinal dopamine-mediated neurotransmission, and the latter, secondary to common causes of light transmission reduction associated with ageing and cataract. This review examines the current evidence linking ocular pathology and the resultant reduction in retinal phototransduction with circadian disturbances and sleep disorders, with downstream effects on our overall physiological integrity. As our understanding of the effects of light pathways on circadian biology develops, therapeutic modalities based upon the underlying pathophysiological processes are emerging, although the direct measurement, consequences and treatment of relative or absolute ipRGC dysfunction remain to be fully and clearly elucidated in man.


Assuntos
Retina/fisiopatologia , Transtornos do Sono do Ritmo Circadiano/etiologia , Humanos , Fotoperíodo , Células Fotorreceptoras de Vertebrados/fisiologia , Retina/metabolismo , Células Ganglionares da Retina/metabolismo , Células Ganglionares da Retina/patologia , Células Ganglionares da Retina/fisiologia , Opsinas de Bastonetes/metabolismo , Transtornos do Sono do Ritmo Circadiano/metabolismo , Transtornos do Sono do Ritmo Circadiano/fisiopatologia , Visão Ocular/fisiologia
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