Genetic disease is a common cause of bilateral childhood cataract in Denmark
Autor: | Line Kessel, Karen Grønskov, Moug Al-Bakri, Daniella Bach-Holm, Laura Roos, Allan M. Lund |
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Rok vydání: | 2021 |
Předmět: |
Male
0301 basic medicine Systemic disease Pediatrics medicine.medical_specialty Adolescent genetic structures Denmark Cataract Extraction Disease 030105 genetics & heredity Cataract Young Adult 03 medical and health sciences 0302 clinical medicine Cataracts medicine Humans Genetic Testing Registries Family history Child Genetics (clinical) Retrospective Studies business.industry Genetic Diseases Inborn Infant Newborn Infant Childhood cataract medicine.disease eye diseases Bilateral Cataracts Ophthalmology Common cause and special cause Child Preschool Karyotyping Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry Female sense organs General health business |
DOI: | 10.6084/m9.figshare.14845074.v1 |
Popis: | Purpose: Bilateral childhood cataracts can be caused by a metabolic disease, constitute a part of a syndrome, run in families, be sporadic or iatrogenic. The amount of work-up needed to establish a cause is discussed and the aim of the present study was to evaluate causes of bilateral childhood cataract. Methods: Chart review of 211 Danish children with bilateral cataracts. Information on work-up was retrieved with special focus on general health, metabolic screening, evaluation for congenital infections and genetic testing. Results: Cataract was seen in combination with systemic disease in 40.8%, 29.4% had hereditary cataracts, 27.0% had isolated cataract, in 1.4% it was associated with ocular malformations and 1.4% had been born prematurely without any other sequelae than the cataract. A genetic cause could be demonstrated in 74 children. Conclusion: Systemic comorbidities are very common in children with cataract and are not always known prior to the diagnosis of cataract. Genetic evaluation, especially targeted analyses, provided a molecular genetic diagnosis in a large proportion of those tested but it also failed to provide a molecular genetic diagnosis in some patients with a family history suggesting autosomal dominant inheritance. Most importantly, in some patients, genetic work-up provided a diagnosis in patients where it had therapeutic consequences and where the systemic disease would have caused irreversible damage, had it not been treated timely. Given the high prevalence of systemic disease, it seems advisable to co-manage children with bilateral cataracts with a pediatrician and to include genetic evaluation as part of the work-up. |
Databáze: | OpenAIRE |
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