Publication: Pediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report
| creativeworkseries.issn | JNMA Print ISSN: 0028-2715; Online ISSN: 1815-672X | |
| dc.contributor.author | Yadav, Bishal | |
| dc.contributor.author | Khadka, Tunam | |
| dc.contributor.author | Shah, Toyendra Jung | |
| dc.contributor.author | Phuyal, Mandish Prasad | |
| dc.contributor.author | Lamichane, Rajesh | |
| dc.contributor.author | Chaurasiya, Bikash | |
| dc.date.accessioned | 2025-07-30T08:37:30Z | |
| dc.date.available | 2025-07-30T08:37:30Z | |
| dc.date.issued | 2024 | |
| dc.description | Bishal Yadav Department of Pediatrics, Kanti Children's Hospital, Maharajgunj, Kathmandu, Nepal Tunam Khadka Department of Pediatrics, Kanti Children's Hospital, Maharajgunj, Kathmandu, Nepal Toyendra Jung Shah Department of Pediatrics, Kanti Children's Hospital, Maharajgunj, Kathmandu, Nepal Mandish Prasad Phuyal Kathmandu Medical college, Sinamangal, Kathmandu, Nepal Rajesh Lamichane Department of Medicine, Grande International Hospital, Dhapasi, Kathmandu, Nepal Bikash Chaurasiya Department of Pediatrics, Kanti Children's Hospital, Maharajgunj, Kathmandu, Nepal | |
| dc.description.abstract | Abstract Usher syndrome is a rare autosomal recessive disorder characterized by progressive sensorineural hearing loss and retinitis pigmentosa, typically present from birth and later symptoms, including loss of night vision and peripheral vision slowly progressing to blindness. The condition exhibits clinical and genetic diversity and currently lacks the definitive treatment. This report presents a case of a ten-year-old female diagnosed with Usher syndrome type IIA via whole exome sequencing. The delayed onset of visual symptoms often leads to a misdiagnosis to isolated deafness in early years. The early identification allows for better prognosis through surveillance and intervention in hearing and visual impairments. If usher patients can receive a timely diagnosis, genetic molecular therapies may help preserve the photoreceptors, subsequently development of blindness could be delayed or possibly be prevented. | |
| dc.identifier | https://doi.org/10.31729/jnma.8849 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/995 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Medical Association | |
| dc.title | Pediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report | |
| dc.type | Other | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 849 | |
| oaire.citation.startPage | 847 | |
| relation.isJournalIssueOfPublication | f18dd8cc-69b0-42e7-9684-ccae5c5bd0df | |
| relation.isJournalIssueOfPublication.latestForDiscovery | f18dd8cc-69b0-42e7-9684-ccae5c5bd0df | |
| relation.isJournalOfPublication | e6e146a0-0ece-4aba-aa0a-6ccfbd10a12a |