“Blink and you'll miss it”- A case report of Alport syndrome
Alport syndrome is a rare disorder of abnormal type IV collagen affecting basement membranes of the glomerulus, cochlea, and ocular structures. A young male presenting with characteristic ocular signs as well as systemic manifestations of Alport syndrome. The diagnosis of Alport syndrome can be easi...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Journal of Clinical Ophthalmology and Research |
| Subjects: | |
| Online Access: | http://www.jcor.in/article.asp?issn=2320-3897;year=2023;volume=11;issue=1;spage=48;epage=49;aulast=Jafar |
| _version_ | 1797904882093522944 |
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| author | Faiza Syed Jafar Alhaj Farhath Tasneem Vittal Nayak |
| author_facet | Faiza Syed Jafar Alhaj Farhath Tasneem Vittal Nayak |
| author_sort | Faiza Syed Jafar |
| collection | DOAJ |
| description | Alport syndrome is a rare disorder of abnormal type IV collagen affecting basement membranes of the glomerulus, cochlea, and ocular structures. A young male presenting with characteristic ocular signs as well as systemic manifestations of Alport syndrome. The diagnosis of Alport syndrome can be easily overlooked in patients with chronic kidney disease, unless a thorough eye examination is conducted. Genetic counseling and timely examination of patients and their families can help reduce the morbidity of the complications associated with Alport syndrome. |
| first_indexed | 2024-04-10T09:56:01Z |
| format | Article |
| id | doaj.art-f6981096d16a42ebbc46655b4a019f91 |
| institution | Directory Open Access Journal |
| issn | 2320-3897 |
| language | English |
| last_indexed | 2024-04-10T09:56:01Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Clinical Ophthalmology and Research |
| spelling | doaj.art-f6981096d16a42ebbc46655b4a019f912023-02-16T12:26:06ZengWolters Kluwer Medknow PublicationsJournal of Clinical Ophthalmology and Research2320-38972023-01-01111484910.4103/jcor.jcor_85_22“Blink and you'll miss it”- A case report of Alport syndromeFaiza Syed JafarAlhaj Farhath TasneemVittal NayakAlport syndrome is a rare disorder of abnormal type IV collagen affecting basement membranes of the glomerulus, cochlea, and ocular structures. A young male presenting with characteristic ocular signs as well as systemic manifestations of Alport syndrome. The diagnosis of Alport syndrome can be easily overlooked in patients with chronic kidney disease, unless a thorough eye examination is conducted. Genetic counseling and timely examination of patients and their families can help reduce the morbidity of the complications associated with Alport syndrome.http://www.jcor.in/article.asp?issn=2320-3897;year=2023;volume=11;issue=1;spage=48;epage=49;aulast=Jafaralport syndromeanterior lenticonuschronic kidney diseasecollagen iv |
| spellingShingle | Faiza Syed Jafar Alhaj Farhath Tasneem Vittal Nayak “Blink and you'll miss it”- A case report of Alport syndrome Journal of Clinical Ophthalmology and Research alport syndrome anterior lenticonus chronic kidney disease collagen iv |
| title | “Blink and you'll miss it”- A case report of Alport syndrome |
| title_full | “Blink and you'll miss it”- A case report of Alport syndrome |
| title_fullStr | “Blink and you'll miss it”- A case report of Alport syndrome |
| title_full_unstemmed | “Blink and you'll miss it”- A case report of Alport syndrome |
| title_short | “Blink and you'll miss it”- A case report of Alport syndrome |
| title_sort | blink and you ll miss it a case report of alport syndrome |
| topic | alport syndrome anterior lenticonus chronic kidney disease collagen iv |
| url | http://www.jcor.in/article.asp?issn=2320-3897;year=2023;volume=11;issue=1;spage=48;epage=49;aulast=Jafar |
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