[Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene]. / Brittle-Cornea-Syndrom Typ 1 durch Compound-Heterozygotie zweier Mutationen im ZNF469-Gen.
Ophthalmologe
; 116(8): 780-784, 2019 Aug.
Article
em De
| MEDLINE
| ID: mdl-30338343
ABSTRACT
We report the case of a 3-year-old boy presenting with bilateral keratoglobus and blue sclera in addition to hallux valgus, arachnodactyly, small joint hypermobility, mitral valve dysfunction and a history of generalized muscular hypotonia in early infancy. Molecular genetics provided evidence of two pathogenic mutations in the ZNF469 gene (compound heterozygosity) leading to the diagnosis of brittle cornea syndrome type 1. In addition to neuropediatric care, spectacles were prescribed to correct refractive error and for ocular protection. Owing to the thin cornea and sclera, eye injuries are the main cause for irreversible visual loss in this disease.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
/
Fatores de Transcrição
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Anormalidades do Olho
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Instabilidade Articular
Limite:
Child, preschool
/
Humans
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Male
Idioma:
De
Revista:
Ophthalmologe
Assunto da revista:
OFTALMOLOGIA
Ano de publicação:
2019
Tipo de documento:
Article