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Review
. 2018 Jun 22;18(1):147.
doi: 10.1186/s12886-018-0820-4.

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

Maha A Al-Rakan  1 , Manal D Abothnain  1 , Muhammad T Alrifai  2 , Majid Alfadhel  3
Affiliations
Review

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

Maha A Al-Rakan et al. BMC Ophthalmol. .

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

Case presentation: We describe a GMS case diagnosed with homozygous missense mutation in the WDR73 gene, with absence of renal abnormalities. We expanded the clinical phenotype of GMS with WDR73 gene defect to include retinal dysfunction with missense mutation and developmental dysplasia of the hip. We compared eye findings of our case to previously reported cases, and we present an electroretinogram (ERG) picture for the first time in the literature.

Conclusion: We recommend that clinicians screen patients with GM syndrome for retinal dysfunction and that a skeletal survey should be done to detect developmental dysplasia of the hip (DDH) so as to provide for early intervention.

Keywords: Absence of perinatal and neonatal renal dysfunction; Galloway-Mowat syndrome; Retinal dysfunction; WDR37.

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Conflict of interest statement

Ethics approval and consent to participate

This study was approved by the Institutional Review Board at King Abdullah International Medical Research Centre (KIMARC) (Study number: RC16/113/R).

Consent for publication

Written informed consent was obtained from the parents.

Competing interests

The authors declare that they have no competing interests.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Combined assessment of the patient eyes obtained via electroretinogram (ERG) and visual evoked responses (VER) tests: The upper tracing is a flash ERG (25 ms) stimulus that shows a poorly-formed low amplitude b-wave, and the other tracings below are flash VER with reproducible positive waves at about 100 ms (P100) upon stimulation of either eye. These findings are suggestive of significant retinal dysfunction
See this image and copyright information in PMC

References

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