RESUMO
Background: Congenital Stationary Night Blindness (CSNB) is a clinically and genetically heterogenous inherited retinal disorder associated with nystagmus, myopia, strabismus, defective dark adaptation, and decreased vision. Pathogenic variants in at least 17 genes have been associated with CSNB, where a hemizygous variant of NYX causing an X-linked form of the disorder is among the commonest causes.Materials and Methods: A retrospective chart review of a single pedigree was performed. Three pediatric patients underwent ophthalmic examinations, visual electrophysiology, and ocular imaging. Molecular genetic testing for CSNB was pursued where clinically indicated.Results: Two male siblings demonstrated clinical and electroretinographic evidence of complete CSNB. Genetic testing identified a NYX pathogenic, in-frame deletion in both children. Targeted variant analysis of the mother failed to identify the variant in two independent samples, most consistent with mosaicism.Conclusions: Clinical and molecular analyses within the described family demonstrate the possibility of maternal mosaicism in NYX-related CSNB. The importance of cascade molecular testing is highlighted. The prospect of somatic or germline mosaicism in NYX-related CSNB informs genetic counseling, genetic testing decisions, and risk assessment in affected families.
Assuntos
Oftalmopatias Hereditárias/genética , Deleção de Genes , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mosaicismo , Miopia/genética , Cegueira Noturna/genética , Proteoglicanas/genética , Adulto , Criança , Pré-Escolar , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Testes Genéticos , Genótipo , Humanos , Lactente , Masculino , Miopia/diagnóstico , Cegueira Noturna/diagnóstico , Linhagem , Estudos Retrospectivos , Irmãos , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To assess the outcome of early therapeutic penetrating keratoplasty (PKP) for corneal melt leading to perforation in children. METHODS: Case notes of all the consecutive patients presenting with acute corneal perforation that underwent urgent therapeutic PKP between 2000 and 2010 to the practice of one of the authors, both NHS at Great Ormond Street Hospital for Children and private, were retrospectively reviewed. Onset of perforation, underlying cause, medical and surgical treatment, pre- and post-operative visual acuity, graft clarity, length of follow-up, and post-operative complications were recorded. RESULTS: Four eyes of four consecutive patients (mean age of 9.5 years and median 8.5 years, range 4-17 years) were treated for acquired acute onset corneal perforations. There were three females and one male. Etiologies included herpes simplex keratitis secondary to immune recovery disease post bone marrow transplantation, acanthamoeba keratitis, recessive dystrophic epidermolysis bullosa, and blepharokeratoconjunctivitis with acne rosacea. Pre-operative visual acuity ranged from hand movements to 6/150. All the patients had severe anterior chamber inflammation. All eyes improved in visual acuity ranging from 6/9 to 6/18 with clear grafts at last follow-up. There was no recurrence of melt or perforation. Mean follow-up was 67 months (median 44 months). CONCLUSION: PKP during the acute phase together with aggressive medical therapy and close follow-up may achieve good visual outcomes in children with corneal melt with perforation and should be considered. Waiting may sometimes allow the marked inflammatory response seen in children to cause irreversible structural and/or functional damage.
Assuntos
Doenças da Córnea/cirurgia , Perfuração da Córnea/cirurgia , Ceratoplastia Penetrante , Ceratite por Acanthamoeba/etiologia , Ceratite por Acanthamoeba/cirurgia , Doença Aguda , Adolescente , Blefarite/etiologia , Blefarite/cirurgia , Criança , Pré-Escolar , Doenças da Córnea/etiologia , Perfuração da Córnea/etiologia , Epidermólise Bolhosa Distrófica/etiologia , Epidermólise Bolhosa Distrófica/cirurgia , Feminino , Seguimentos , Sobrevivência de Enxerto/fisiologia , Humanos , Ceratite Herpética/etiologia , Ceratite Herpética/cirurgia , Ceratoconjuntivite/etiologia , Ceratoconjuntivite/cirurgia , Masculino , Complicações Pós-Operatórias , Estudos Retrospectivos , Acuidade Visual/fisiologiaRESUMO
BACKGROUND/AIMS: To evaluate the safety and efficacy of punctal plugs in children with dry eye syndrome. METHODS: A retrospective case series of patients who had an insertion of silicone punctal plugs for dry eye syndrome. Data collected included presenting symptoms, signs, systemic disorders if present, type of anaesthesia and complications by the time of last follow-up. RESULTS: Twenty-five patients (median age at insertion 7 years, range 1.5-13.8 years) were identified. Median follow-up was 18 months. The commonest symptoms were photophobia, soreness and blepharospasm, and the commonest sign was punctate epithelial erosions. Concurrent systemic disease was present in 18/25 patients. Repeated procedures were carried out in eight of 25 patients. Twenty-four of 35 insertions were performed under general anaesthesia. A substantial improvement in ocular surface disease was noted in all cases: frequency of lubricant use was reduced in eight of 25 and visual acuity improved in 15/25 patients. Spontaneous extrusion was the commonest complication and occurred within 6 months in 19% of cases. CONCLUSION: Dry eye syndrome in children is often accompanied by systemic disease, so in a child with persistent symptoms this should be explored. Punctal plugs offer a safe and effective form of treatment especially as compliance of frequent lubrication is limited in children.
Assuntos
Síndromes do Olho Seco/cirurgia , Aparelho Lacrimal/cirurgia , Complicações Pós-Operatórias , Próteses e Implantes/efeitos adversos , Próteses e Implantes/normas , Adolescente , Anestesia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Falha de Prótese , Estudos Retrospectivos , Silicones , Resultado do TratamentoRESUMO
Congenital corneal opacification (CCO) encompasses a broad spectrum of disorders that have different etiologies, including genetic and environmental. Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridocorneal adhesions. This is not only confusing but also unhelpful in determining valid genotype-phenotype correlations, and thereby revealing clues for pathogenesis. We undertook a systematic review of the literature focusing on CCO as part of anterior segment developmental anomalies (ASDA), and analyzed its association specifically with chromosomal abnormalities. Genes previously identified as being associated with CCO are also summarized. All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed.
Assuntos
Córnea , Opacidade da Córnea , Proteínas do Olho/genética , Aberrações Cromossômicas , Cromossomos Humanos/química , Cromossomos Humanos/genética , Córnea/anormalidades , Córnea/metabolismo , Opacidade da Córnea/classificação , Opacidade da Córnea/congênito , Opacidade da Córnea/diagnóstico , Opacidade da Córnea/genética , Bases de Dados Bibliográficas , Diagnóstico Diferencial , Proteínas do Olho/metabolismo , Feminino , Estudos de Associação Genética , Ligação Genética , Loci Gênicos , Humanos , Masculino , MutaçãoAssuntos
Amidas/efeitos adversos , Anti-Hipertensivos/efeitos adversos , Cloprostenol/análogos & derivados , Descolamento Retiniano/induzido quimicamente , Síndrome de Sturge-Weber/complicações , Adolescente , Bimatoprost , Cloprostenol/efeitos adversos , Feminino , Humanos , Hipertensão Ocular/tratamento farmacológico , Resultado do Tratamento , Acuidade VisualRESUMO
BACKGROUND: Current patterns of practice relating to primary intraocular lens (IOL) implantation in children < or =2 years old in the UK and Ireland are investigated. METHODS: National postal questionnaire surveys of consultant ophthalmologists in the UK and Ireland. RESULTS: 76% of 928 surveyed ophthalmologists replied. 47 (7%) of the respondents operated on children aged < or =2 with cataract. 41 (87%) of respondents performed primary IOL implantation, but 25% would not implant an IOL in a child under 1 year old. 88% of surgeons used limbal wounds, 80% manual capsulotomies, 98% posterior capsulotomies and 100% hydrophobic acrylic lenses. The SRK/T formula was most commonly used (70%). Exclusion criteria for primary IOL implantation varied considerably and included microphthalmos (64% of respondents), anterior and posterior segment anomalies (53%, 58%), and glaucoma (19%). DISCUSSION: Primary IOL implantation in children < or =2 has been widely adopted in the UK and Ireland. There is concordance of practice with regards to surgical technique and choice of IOL model. However, there is some variation in eligibility criteria for primary IOLs: this may reflect a lack of consensus on which children are most likely to benefit. Thus, there is a need for systematic studies of the outcomes of primary IOL implantation in younger children.
Assuntos
Extração de Catarata/métodos , Implante de Lente Intraocular/métodos , Oftalmologia , Prática Profissional/organização & administração , Consultores , Humanos , Lactente , Irlanda , Lentes Intraoculares , Prática Profissional/estatística & dados numéricos , Inquéritos e Questionários , Reino UnidoRESUMO
AIMS: To determine the incidence of glaucoma, with onset within 1 year after the date of cataract surgery (early onset) performed in the first year of life, with or without intraocular lens (IOL) implantation. METHODS: A retrospective review of a single surgeon's cohort from 1999 to 2006. Glaucoma onset risk, comparison of aphakic/pseudophakic eyes and IOL type were analysed together with microcornea, persistent fetal vasculature (PFV) and age < or =4 weeks at surgery. RESULTS: Ninety-eight eyes (62 patients; mean age 2.88 months) were included with 61 eyes (36 patients) aphakic (57 planned and four failed implantations), and 37 eyes (26 patients) pseudophakic. At a mean follow-up of 2.51 years,15.3% (12.2% within 1 year) of all eyes, 9.8% of eyes (6.6% within 1 year) in the planned aphakic group, all four eyes with failed implantation and 13.5% of the pseudophakic eyes (10.8% within 1 year) developed glaucoma. Glaucoma incidence stratified by absence or presence of IOL showed no statistically significant difference, but eyes in the rigid polymethylmethacrylate group had an increased glaucoma risk compared with the Acrysof group (p = 0.002). Microcornea, PFV and age < or =4 weeks at surgery were not significant predictors of early-onset glaucoma. CONCLUSIONS: In this single surgeon study of infant cataract surgery only, age < or =4 weeks at surgery was not a predictor of early-onset glaucoma. The rate of aphakic and pseudophakic early-onset glaucoma was not found to be statistically different, but we found a statistically different rate of glaucoma between the two IOL types which needs further evaluation, given that this is a retrospective review. Excessive surgical trauma influences incidence of glaucoma.
Assuntos
Afacia Pós-Catarata/complicações , Extração de Catarata/efeitos adversos , Glaucoma/etiologia , Implante de Lente Intraocular , Idade de Início , Afacia Pós-Catarata/epidemiologia , Feminino , Glaucoma/epidemiologia , Humanos , Incidência , Lactente , Pressão Intraocular/fisiologia , Implante de Lente Intraocular/efeitos adversos , Masculino , Estudos RetrospectivosRESUMO
Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the "cerebroretinal microangiopathy with calcification and cysts" (CRMCC) phenotype.
Assuntos
Calcinose/diagnóstico , Transtornos Cerebrovasculares/diagnóstico , Cistos/diagnóstico , Doenças Retinianas/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Fenótipo , Telangiectasia/patologiaRESUMO
The classification system of congenital corneal opacification (CCO) may be better considered from a perspective of pathogenesis, surgical intervention, and prognosis. The author feels that CCO is best considered as being primary and secondary. Primary CCO includes corneal dystrophies and choristomas presenting at birth. Secondary CCO may be best considered as cases of kerato-irido-lenticular dysgenesis (KILD) and other secondary causes including infection, iatrogenic, developmental anomalies of the iridotrabecular system or lens or both, and developmental anomalies of the adnexal. The appropriate classification may help determine prognosis of any surgical intervention. Terminology is crucial to furthering our understanding of the formation of the anterior chamber if we are to do so by studying cases of CCO. Peters' anomaly is too imprecise a term to describe cases of CCO. This classification of primary and secondary CCO with its subclassifications cannot be made by clinical examination alone and necessitates other diagnostic assessments. It is time to only accept studies of CCO genotype/phenotype correlation for publication if there is clinical phenotype augmented by anterior segment imaging (OCT or high-frequency ultrasound) or histology or both.
Assuntos
Opacidade da Córnea/classificação , Opacidade da Córnea/congênito , Terminologia como Assunto , Animais , Opacidade da Córnea/etiologia , Opacidade da Córnea/cirurgia , Oftalmopatias Hereditárias/classificação , Oftalmopatias Hereditárias/genética , Humanos , Lactente , Recém-Nascido , CamundongosRESUMO
Laryngo-onychocutaneous syndrome (LOCS) is a condition characterized by erosive or ulcerative skin lesions associated with excessive granulation tissue, at sites of trauma such as the digits, elbows and knees. Similar lesions can occur within the conjunctival mucosa, leading to corneal scarring and blindness. The main complications, however, occur in the respiratory tract, where a similar process of erosions and subsequent formation of granulation tissue causes airway obstruction which may lead to premature death. LOCS is now believed to be a nonblistering variant of junctional epidermolysis bullosa and to date there are no efficacious treatments available. We report a 16-year-old girl with LOCS who failed to respond to methylprednisolone and cyclophosphamide, but had a partial response to oral thalidomide with marked decrease in granulation tissue and tracheal secretions. Interruption of treatment resulted in prompt resurgence of the granulation tissue which was again controlled by reintroduction of thalidomide. We propose that in the absence of effective therapies for LOCS, a trial of thalidomide in these patients should be considered.
Assuntos
Doenças da Túnica Conjuntiva/tratamento farmacológico , Epidermólise Bolhosa/tratamento farmacológico , Imunossupressores/uso terapêutico , Doenças da Laringe/tratamento farmacológico , Doenças da Unha/tratamento farmacológico , Talidomida/uso terapêutico , Adolescente , Doenças da Túnica Conjuntiva/etiologia , Feminino , Humanos , Doenças da Laringe/etiologia , Doenças da Unha/etiologia , Síndrome , Úlcera/tratamento farmacológico , Úlcera/etiologiaRESUMO
Penetrating orbital injuries pose a serious threat to vision, ocular motility, and in some cases, life. Long, sharp stiletto objects may penetrate deeply, causing catastrophic damage to orbital structures, despite seemingly trivial entry wounds. The authors present two cases of penetrating orbital injuries by stiletto objects, both entering via small eyelid wounds. Traumatic optic neuropathy occurred in both cases, and was treated with corticosteroids, however the globes escaped direct injury. Injuries to the IIIrd and VIth cranial nerves were also observed. Deep orbital injuries must be excluded in patients presenting with small eyelid wounds caused by sharp penetrating objects.
Assuntos
Doenças dos Nervos Cranianos/etiologia , Ferimentos Oculares Penetrantes/etiologia , Órbita/lesões , Adolescente , Criança , Pálpebras/lesões , Feminino , Humanos , Traumatismos do Nervo Óptico/etiologiaRESUMO
AIMS: To demonstrate the expression patterns of two fibroblast growth factor receptors (FGFR-2 and FGFR-3) in the normal human fetal orbit. METHODS: 6 microm orbital slide sections were prepared from 12 week old human fetal material obtained within established ethical guidelines. Radioactive in situ hybridisation techniques were used to demonstrate the expression patterns of FGFR-2 and FGFR-3 within these sections. Only one foetus had appropriate orbital sections taken. RESULTS: FGFR-2 was expressed within the extraocular muscles (EOMs) and the optic nerve sheath and to a lesser degree within the orbital periosteal margins and the cranial sutures. FGFR-3 was expressed a lot within the periosteal margins and cranial sutures but not within either the EOMs or the optic nerve sheath. CONCLUSIONS: FGFR-2 and FGFR-3 are differentially expressed within different orbital components. FGFR-2 gene mutations may be responsible for craniosynostotic syndromes such as Crouzon, Pfeiffer, and Apert, while those in the FGFR-3 gene may cause isolated unicoronal synostosis. EOMs may be histologically abnormal in cases of Apert, Pfeiffer, and Crouzon syndromes but not isolated unicoronal synostosis. The pattern of expression of FGFR-2 in the normal human fetal orbit may explain some of the EOM histological findings seen in some cases of Apert, Pfeiffer, and Crouzon syndromes.
Assuntos
Fator 2 de Crescimento de Fibroblastos/metabolismo , Órbita/embriologia , Órbita/metabolismo , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/metabolismo , Humanos , Músculos Oculomotores/metabolismo , Nervo Óptico/metabolismoRESUMO
AIM: To describe the clinical spectrum of achiasmia, a congenital disorder of reduced relative decussation at the optic chiasm. METHODS: A retrospective case note and patient review of nine children (four boys). Achiasmia was defined by the combination of a characteristic asymmetry of the monocular visual evoked potential (VEP) response to flash and neuroimaging showing reduced chiasmal size. RESULTS: Three of the children had an associated skull base encephalocele with agenesis of the corpus callosum. In two patients achiasmia was associated with septo-optic dysplasia. Three patients had no neuroimaging abnormalities other than reduced chiasmal size and have no known pituitary dysfunction. One child had multiple physical deformities but the only brain imaging abnormality was reduced chiasmal size. CONCLUSIONS: Some children with disorders of midline central nervous system development, including septo-optic dysplasia and skull base encephaloceles, have congenitally reduced chiasmal decussation. Reduced relative decussation may co-exist with overall chiasmal hypoplasia. Children with an apparently isolated chiasmal decussation deficit may have other subtle neurological findings, but our clinical impression is that most of these children function well.
Assuntos
Anormalidades Múltiplas , Quiasma Óptico/anormalidades , Adolescente , Agenesia do Corpo Caloso , Criança , Pré-Escolar , Encefalocele/fisiopatologia , Potenciais Evocados Visuais , Movimentos Oculares , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Quiasma Óptico/patologia , Estudos Retrospectivos , Base do Crânio/anormalidades , Acuidade Visual , Campos VisuaisRESUMO
We report a child with isolated saggital synostosis where a gradual deterioration of the P100 component of the pattern reversal visual evoked potential recorded during the day was associated with episodes of upper airway obstruction during sleep that correlated with periods of ICP spiking. Adenoid-tonsillectomy reversed this deterioration with coincident increase in SaO2 and decreased sleep apnoea.
Assuntos
Adenoidectomia , Craniossinostoses/complicações , Tonsilectomia , Transtornos da Visão/etiologia , Transtornos da Visão/cirurgia , Pré-Escolar , Craniossinostoses/fisiopatologia , Potenciais Evocados Visuais/fisiologia , Humanos , Masculino , Apneia Obstrutiva do Sono/etiologia , Apneia Obstrutiva do Sono/fisiopatologia , Apneia Obstrutiva do Sono/cirurgia , Transtornos da Visão/fisiopatologiaRESUMO
PURPOSE: Congenital glaucoma is a well-recognized entity that can occur in the presence of anterior segment dysgenesis. Trabeculectomy is an accepted intervention in the management of congenital glaucoma. The surgical technique as well as complications is well described. METHODS: This is a case report of a 3-month-old girl with anterior segment dysgenesis and glaucoma. She was referred post-trabeculectomy with persistent corneal opacity to be considered for penetrating keratoplasty and was found to have intrastromal corneal bleb. RESULTS: Ultrasound biomicroscopy confirmed communication of the corneal bleb with the anterior chamber, and the bleb was treated by autologous blood injection at the trabeculectomy site, under acetazolamide cover. CONCLUSIONS: We present evidence suggesting that abnormal structure was the etiologic basis for corneal bleb formation and describe our management of this previously unreported complication of trabeculectomy.
Assuntos
Acetazolamida/administração & dosagem , Vesícula/terapia , Sangue , Doenças da Córnea/terapia , Glaucoma/cirurgia , Trabeculectomia/efeitos adversos , Acetazolamida/uso terapêutico , Administração Oral , Segmento Anterior do Olho/anormalidades , Vesícula/diagnóstico por imagem , Vesícula/etiologia , Vesícula/patologia , Doenças da Córnea/diagnóstico por imagem , Doenças da Córnea/etiologia , Doenças da Córnea/patologia , Feminino , Glaucoma/complicações , Glaucoma/congênito , Humanos , Lactente , Injeções Intralesionais , UltrassonografiaRESUMO
We report a 12-year-old boy with dental, auricular, nasolacrimal duct and unique eyelid anomalies as well as cribriform scrotal atrophy. We believe this is the first description of such a case, although many of the features fit within the spectrum of the ankyloblepharon/ectodermal dysplasia/clefting (AEC) syndrome.