RESUMEN
PURPOSE: To survey national variation in the management of congenital nasolacrimal duct obstruction, particularly the timing of intervention and the use of nasolacrimal intubation, nasal endoscopy, and assistance from an ear, nose, and throat surgeon at different stages of management. METHODS: A telephone survey was conducted of 100 ophthalmologists in the United Kingdom who were involved in the management of congenital nasolacrimal duct obstruction. A sequential management protocol was established for each, including the nature of procedures, their timing, and the use of nasal endoscopy and ear, nose, and throat surgeons. RESULTS: Of those surveyed, 49% use the dye disappearance test for diagnosis. Eighty-four percent suggest lacrimal sac massage to parents. No surveyed ophthalmologists perform "office" probing or balloon dilation. Seventy-four percent perform initial probing after 1 year, with 25% using nasal endoscopy. If symptoms persist, 64.5% (60 of 93) repeat the probing, whereas 35.5% (33 of 93) intubate the lacrimal system. The use of nasal endoscopy increases to 50.5% (47 of 93). By the third intervention, 77.6% (45 of 58) perform lacrimal intubation, with 72.4% (42 of 58) using nasal endoscopy. All opt for dacryocystorhinostomy as the fourth intervention and 28.3% (13 of 46) perform this procedure themselves, whereas 71.7% (33 of 46) refer the patient to another practitioner. In total, 65% (65 of 100) use tubes at some stage of management, 58% (58 of 100) make some use of nasal endoscopy, and 33% (33 of 100) involve ear, nose, and throat surgeons. CONCLUSION: Based on the results of this survey, huge variation exists in the management of congenital nasolacrimal duct obstruction in the United Kingdom. Most ophthalmologists intervene soon after patients reach 1 year of age. The rate of nasal endoscopy increases with successive interventions, especially to aid with nasal intubation, either alone or with the assistance of ear, nose, and throat surgeons.
Asunto(s)
Dacriocistorrinostomía/métodos , Endoscopía/métodos , Intubación , Obstrucción del Conducto Lagrimal/congénito , Obstrucción del Conducto Lagrimal/terapia , Conducto Nasolagrimal , Dacriocistorrinostomía/estadística & datos numéricos , Endoscopía/estadística & datos numéricos , Encuestas Epidemiológicas , Humanos , Incidencia , Obstrucción del Conducto Lagrimal/epidemiología , Encuestas y Cuestionarios , Resultado del Tratamiento , Reino Unido/epidemiologíaRESUMEN
The authors report for the first time two cases of upper eyelid entropion secondary to neonatal conjunctivitis that resolved spontaneously following the insertion of a bandage contact lens. Previous reports advocate early surgical intervention to correct the eyelid abnormality and prevent any permanent corneal scarring and visual loss.
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Entropión/microbiología , Antibacterianos/uso terapéutico , Chlamydia trachomatis/aislamiento & purificación , Conjuntivitis Bacteriana/diagnóstico , Conjuntivitis Bacteriana/tratamiento farmacológico , Conjuntivitis Bacteriana/microbiología , Lentes de Contacto , Corynebacterium diphtheriae/aislamiento & purificación , Entropión/fisiopatología , Entropión/terapia , Humanos , Recién Nacido , Masculino , Remisión Espontánea , Tracoma/diagnóstico , Tracoma/tratamiento farmacológico , Tracoma/microbiologíaRESUMEN
OBJECTIVES: To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus. METHODS: Subjects from pedigree 1 underwent detailed clinical examination including nystagmology. Screening of FRMD7 was undertaken in pedigree 1 and in 37 other congenital idiopathic nystagmus probands and controls. Direct sequencing confirmed sequence changes. X-inactivation studies were performed in pedigree 1. RESULTS: The nystagmus phenotype was extremely variable in pedigree 1. We identified 2 FRMD7 mutations. However, 80% of X-linked families and 96% of simplex cases showed no mutations. X-inactivation studies demonstrated no clear causal link between skewing and variable penetrance. CONCLUSIONS: We confirm profound phenotypic variation in X-linked congenital idiopathic nystagmus pedigrees. We demonstrate that other congenital nystagmus genes exist besides FRMD7. We show that the role of X inactivation in variable penetrance is unclear in congenital idiopathic nystagmus. Clinical Relevance We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations. While FRMD7 mutations may be found in some cases of X-linked congenital idiopathic nystagmus, the diagnostic yield is low. X-inactivation assays are unhelpful as a test for carrier status for this disease.
Asunto(s)
Alelos , Proteínas del Citoesqueleto/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Variación Genética , Proteínas de la Membrana/genética , Mutación , Nistagmo Congénito/genética , Electronistagmografía , Movimientos Oculares , Femenino , Genes Ligados a X/genética , Ligamiento Genético , Genotipo , Humanos , Masculino , Linaje , Fenotipo , Polimorfismo Conformacional Retorcido-Simple , Análisis de Secuencia de ADN , Inactivación del Cromosoma X/genéticaRESUMEN
Persistent fetal vasculature (PFV), also known as persistent hyperplastic primary vitreous (PHPV), is a failure of regression of the primary vitreous, which usually occurs in isolation. Orbital lymphangiomas present in early life with eyelid swelling or proptosis and are not associated with intraocular abnormalities. We report the case of a male infant with PHPV and ipsilateral orbital lymphangioma.
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Anomalías del Ojo/complicaciones , Linfangioma/complicaciones , Neoplasias Orbitales/complicaciones , Cuerpo Vítreo/anomalías , Diagnóstico Diferencial , Anomalías del Ojo/diagnóstico , Estudios de Seguimiento , Humanos , Lactante , Linfangioma/diagnóstico , Imagen por Resonancia Magnética , Masculino , Neoplasias Orbitales/diagnóstico , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/etiologíaRESUMEN
PURPOSE: To evaluate whether HLA genotypes are associated with age-related macular degeneration (AMD). METHODS: HLA class I-A, -B, and -Cw and class II DRB1 and DQB1 principal allele groups were genotyped in two stages: initially for principal allele groups in a cohort of 100 AMD cases and 92 control subjects, and then, in the next 100 cases and controls from the same cohort, for alleles or allele groups with P < 0.1 on initial typing. Genotype frequencies were compared by 2 x 2 contingency tables. The strongest associations for individual HLA alleles were calculated with two-locus stratification analysis and logistic regression for all possible pair-wise HLA combinations. Bonferroni corrections were applied for multiple measurements (P(c)). Each HLA allele was subjected to logistic regression for known AMD covariates. HLA immunohistochemistry for class I antigens was performed on elderly donor eyes. RESULTS: Allele Cw*0701 (P = 0.004, P(c) = 0.036) correlated positively with AMD, whereas alleles B*4001 (P = 0.003, P(c) = 0.027) and DRB1*1301(P = 0.001, P(c) = 0.009) were negatively associated. These HLA associations were independent of any linkage disequilibrium. Immunohistochemistry demonstrated differential HLA class I expression in choriocapillary endothelial cells. CONCLUSIONS: Significant positive and negative associations exist between HLA alleles and AMD. HLA polymorphisms influence the development of AMD, possibly via modulating choroidal immune function.
Asunto(s)
Antígenos de Histocompatibilidad Clase II/genética , Antígenos de Histocompatibilidad Clase I/genética , Degeneración Macular/genética , Polimorfismo Genético , Anciano , Anciano de 80 o más Años , Alelos , Femenino , Técnica del Anticuerpo Fluorescente Indirecta , Genotipo , Antígenos HLA/genética , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Factores de RiesgoRESUMEN
Twenty-nine patients (16 males, 13 females) with Joubert syndrome were identified from ophthalmology, neurology, and genetic databases covering a 15-year period at Great Ormond Street Hospital, London. Criteria for diagnosis included absent or markedly hypoplastic cerebellar vermis, abnormal eye movements, and developmental delay. Five patients had died. Scans and notes were available for 22 patients, and 18 cases were clinically reviewed. The median age was 10 years 10 months (range 3mo to 19y) and the median follow-up was 8 years 5 months (range 3mo to 19y, with one new patient seen at 3mo of age). Cerebellar vermis hypoplasia/aplasia with 'molar tooth sign' in the axial plane was present in 22 of 22 patients, coloboma in 6 of 22, and polydactyly in 6 of 22. In the 18 clinically reviewed, apnoea occurred in 13 patients. Five had renal problems with cysts and 4 of 5 had abnormal electroretinograms (ERGs). Visual electrophysiology was abnormal in 14 of 18 patients, and in 6 there was evidence of deterioration in the ERG. Blood investigations of organic acids, phytanic acid, very-long-chain fatty acid, and transferrin were normal in 12 patients tested. Developmental assessment showed that 6 of 15 patients aged more than 5 years were at mainstream school, and 12 of 18 had started walking between 22 months and 10 years. Speech difficulties and behavioural problems were prominent.