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Article

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

BMC ophthalmology - 22 Jun 2018

Al-Rakan Maha A, Abothnain Manal D, Alrifai Muhammad T, Alfadhel Majid

Abstract excerpt

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, and ataxia, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (ESRD), and...

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Identifiers

PMID: 29929488
DOI: 10.1186/s12886-018-0820-4
PMCID: PMC6013877

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ERG

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