Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis.
Ophthalmic Genet
; 41(1): 79-82, 2020 02.
Article
em En
| MEDLINE
| ID: mdl-32083505
Background: Leber congenital amaurosis (LCA) is both genetically and phenotypically heterogeneous group of retinal disorder. Mutations in retinal degeneration 3 (RD3) have been reported as an infrequent cause of LCA which account for less than 1% of all known LCA cases. This case report provides Optical Coherence Tomography (OCT) and Fundus Autofluorescence (FAF) findings of an infant with LCA related to a mutation in RD3.Materials and Methods: Single retrospective case report.Results: TruSight One Expanded Sequencing Panel was applied to the patient on the Illumina NextSeq. Homozygous pathogenic variant (c.112 C > T, p.Arg38Ter) was detected in the RD3 gene. Well-demarcated central foveal atrophy was noted in the infrared imaging. FAF imaging showed perifoveal hyperautofluorescent ring and irregular hyperautofluorescence outside the vascular arcade. An arrest in foveal development and loss of outer retinal structure including outer nuclear layer, external limiting membrane, ellipsoid zone and interdigitation zone at the fovea were detected in the OCT imaging.Conclusion: This study indicates that RD3-related LCA has a very severe phenotype with foveal development arrest and very early loss of all photoreceptor layer and external limiting membrane at the fovea.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Angiofluoresceinografia
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Tomografia de Coerência Óptica
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Proteínas do Olho
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Amaurose Congênita de Leber
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Mutação
Tipo de estudo:
Observational_studies
Limite:
Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Ophthalmic Genet
Assunto da revista:
GENETICA MEDICA
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OFTALMOLOGIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Turquia