Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years

Aims: To describe the evolution of ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG).Methods: A clinical ophthalmological examination with visual acuity measurement, fundoscopy and flash electroretinogram (fERG) was perform...

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Bibliographic Details
Main Authors: Van Hees, Ines, Jaeken, Jaak, Meersseman, Wouter, Casteels, Ingele
Format: Article
Language:English
Published: German Medical Science GMS Publishing House 2019-11-01
Series:GMS Ophthalmology Cases
Online Access:http://www.egms.de/static/en/journals/oc/2019-9/oc000126.shtml

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http://www.egms.de/static/en/journals/oc/2019-9/oc000126.shtml

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