RESUMO
Three patients with facial port wine birthmarks were randomly assigned to receive treatment with topical timolol or the placebo. Three masked observers evaluated photographs of the patients, noting improvement in patients who were treated with timolol and two controls. The photographic technique was not standardized. This pilot study suggests topical timolol warrants further evaluation for port wine birthmarks. [J Pediatr Ophthalmol Strabimus. 2021;58:e1-e4.].
Assuntos
Mancha Vinho do Porto , Síndrome de Sturge-Weber , Humanos , Fotografação , Projetos Piloto , Síndrome de Sturge-Weber/complicações , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/tratamento farmacológico , TimololRESUMO
The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. We report the first child with cri-du-chat and the findings of unilateral corneal staphyloma due to Peters anomaly and retinal dysplasia.
Assuntos
Segmento Anterior do Olho/anormalidades , Doenças da Córnea/etiologia , Opacidade da Córnea/complicações , Síndrome de Cri-du-Chat/complicações , Anormalidades do Olho/complicações , Displasia Retiniana/etiologia , Deleção Cromossômica , Cromossomos Humanos Par 5/genética , Córnea/patologia , Doenças da Córnea/diagnóstico , Opacidade da Córnea/diagnóstico , Síndrome de Cri-du-Chat/diagnóstico , Deficiências do Desenvolvimento , Anormalidades do Olho/diagnóstico , Feminino , Humanos , Lactente , Microcefalia/diagnóstico , Microcefalia/etiologia , Microscopia Acústica , Displasia Retiniana/diagnósticoRESUMO
PURPOSE: To report the occurrence of intraretinal cystoid spaces presumably due to retinal degeneration caused by CRB1 mutations, and the response to treatment with carbonic anhydrase inhibitors. MATERIALS: Retrospective case series. METHODS: We report four patients with retinal degeneration and intraretinal cystoid spaces due to CRB1 mutation. Of these patients, three were treated with topical carbonic anhydrase inhibitors. One of these three patients was changed to oral carbonic anhydrase inhibitor. Best corrected visual acuity and quantitative and qualitative macular optical coherence tomography results were recorded. RESULTS: Three patients were compound heterozygous for CRB1 mutations, and one had two mutations one of which was not found in the father. A total of seven different mutations were detected. All patients treated with carbonic anhydrase inhibitors experienced an improvement in visual acuity and decreased central retinal thickness, except in one eye in which retinal thickness paradoxically increased. CONCLUSIONS: CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.
Assuntos
Proteínas do Olho/genética , Edema Macular/genética , Proteínas de Membrana/genética , Mutação , Proteínas do Tecido Nervoso/genética , Distrofias Retinianas/genética , Acetazolamida/uso terapêutico , Adolescente , Inibidores da Anidrase Carbônica/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Edema Macular/tratamento farmacológico , Masculino , Linhagem , Reação em Cadeia da Polimerase , Distrofias Retinianas/tratamento farmacológico , Estudos Retrospectivos , Sulfonamidas/uso terapêutico , Tiofenos/uso terapêutico , Tomografia de Coerência Óptica , Acuidade VisualRESUMO
PURPOSE: To assess the performance of a refined Web-based tool for documenting retinal hemorrhage characteristics in suspected abusive head trauma. METHODS: Using a comprehensive tabular secure platform, with access to digital images in color, black and white, and 4-zone system schematic overlay, four pediatric ophthalmologists performed pilot testing with 80 images for tool refinement. In a second phase, retinal hemorrhages were documented by number, zone, and type. Interobserver agreement was calculated using the Fleiss kappa coefficient. Intraobserver agreement was calculated using Cohen's kappa statistic. We used surface area mapping software for further analysis. RESULTS: Interobserver agreement was good (kappa 0.4-0.6) and very good (kappa 0.6-0.8) for all questions in Zone A (peripapillary). For zones C (midperiphery) and D (peripheral retina), agreement was very good for all questions except number of hemorrhages, for which agreement was good. Zone B (macula) showed good and fair agreement except for superficial hemorrhage, for which agreement was poor. There was very good intraobserver agreement for number (kappa 0.68, 0.65, 0.67) and type of hemorrhages in zones A, B, and C. Surface area mapping results revealed no significant differences between zones A and B. Zones C and D had significantly less hemorrhage than A and B. CONCLUSIONS: Our tool performed with good or very good interobserver and intraobserver agreement in almost all domains. We attribute zone B underperformance to the significant increased area covered by hemorrhages compared to zones C and D and the lack of contrast with normal anatomical structures in zone A.
Assuntos
Maus-Tratos Infantis/diagnóstico , Traumatismos Craniocerebrais/diagnóstico , Hemorragia Retiniana/diagnóstico , Análise de Variância , Criança , Pré-Escolar , Traumatismos Craniocerebrais/complicações , Humanos , Internet , Variações Dependentes do Observador , Fotografação , Projetos PilotoRESUMO
PURPOSE: To report a new ocular manifestation of the dup22q11 syndrome and explore involved genes that may offer insight to mechanisms of pathogenesis. DESIGN: Case series. PARTICIPANTS: Two male patients with this syndrome diagnosed with dup22q11.2. METHODS: Medical records were reviewed. Duplication was detected in the oligo-single nucleotide polymorphism chromosomal microarray and duplicated genes within the segment where determined by literature and database review. Potential associations between the ophthalmologic manifestations and their physiopathology were investigated. MAIN OUTCOME MEASURES: Microarray results and identification of candidate genes within the duplicated segment. RESULTS: Our patients demonstrate previously unreported findings of dup22q11.2, including Marcus Gunn jaw winking, Duane's retraction syndrome, and other abnormal eye movements consistent with a congenital cranial dysinnervation disorder (CCDD), retinal vascular tortuosity, and primary infantile glaucoma. The duplicated segment in case 1 includes SNAP29, which could be linked with the development of retinal vascular tortuosity, and MAPK1, which seems to play a role in axonal development through the semaphorin pathway, which may serve as a candidate gene for CCDD. In case 2, the CLDN5 gene is within the duplicated segment. CLDN5 could be involved in the pathophysiology of glaucoma. CONCLUSIONS: Our cases expand the ocular phenotype for duplication of 22q11 and serve to identify potential candidate genes for the development of CCDD, retinal vascular tortuosity, and glaucoma.