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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| Format: | Article |
| Language: | English |
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BMC
2018-06-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12886-018-0820-4 |
| _version_ | 1818249384012283904 |
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| author | Maha A. Al-Rakan Manal D. Abothnain Muhammad T. Alrifai Majid Alfadhel |
| author_facet | Maha A. Al-Rakan Manal D. Abothnain Muhammad T. Alrifai Majid Alfadhel |
| author_sort | Maha A. Al-Rakan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T15:35:38Z |
| format | Article |
| id | doaj.art-f020c2371d2d4ef6aac73b873f968a1b |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-12-12T15:35:38Z |
| publishDate | 2018-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-f020c2371d2d4ef6aac73b873f968a1b2022-12-22T00:20:01ZengBMCBMC Ophthalmology1471-24152018-06-011811410.1186/s12886-018-0820-4Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findingsMaha A. Al-Rakan0Manal D. Abothnain1Muhammad T. Alrifai2Majid Alfadhel3Deapartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud UniversityDeapartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud UniversityDivision of Neurology, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdullah Specialized Children’s Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA)Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA)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.http://link.springer.com/article/10.1186/s12886-018-0820-4Galloway-Mowat syndromeWDR37Retinal dysfunctionAbsence of perinatal and neonatal renal dysfunction |
| spellingShingle | Maha A. Al-Rakan Manal D. Abothnain Muhammad T. Alrifai Majid Alfadhel Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings BMC Ophthalmology Galloway-Mowat syndrome WDR37 Retinal dysfunction Absence of perinatal and neonatal renal dysfunction |
| title | Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings |
| title_full | Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings |
| title_fullStr | Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings |
| title_full_unstemmed | Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings |
| title_short | Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings |
| title_sort | extending the ophthalmological phenotype of galloway mowat syndrome with distinct retinal dysfunction a report and review of ocular findings |
| topic | Galloway-Mowat syndrome WDR37 Retinal dysfunction Absence of perinatal and neonatal renal dysfunction |
| url | http://link.springer.com/article/10.1186/s12886-018-0820-4 |
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