Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings

Abstract Background Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, a...

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Bibliographic Details
Main Authors: Maha A. Al-Rakan, Manal D. Abothnain, Muhammad T. Alrifai, Majid Alfadhel
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Ophthalmology
Subjects:
Galloway-Mowat syndrome
WDR37
Retinal dysfunction
Absence of perinatal and neonatal renal dysfunction
Online Access:http://link.springer.com/article/10.1186/s12886-018-0820-4

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http://link.springer.com/article/10.1186/s12886-018-0820-4

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