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Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts
BACKGROUND: Leber hereditary optic neuropathy (LHON) is a maternally inherited disease resulting in irreversible visual loss usually in patients belonging to the age group of 15–35 years. Clinically, the patients present with sequential or bilateral, painless, progressive visual loss with central (o...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795704/ https://www.ncbi.nlm.nih.gov/pubmed/36589039 http://dx.doi.org/10.4103/aian.aian_532_22 |
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author | Wilson, Vinny Kaur, Prabhjit Singh, Sofia Ramachandran, Radhika P. Jyothi, Vislavath Mahesh, Karthik V. Takkar, Aastha Chandak, Giriraj Singh, Ramandeep |
author_facet | Wilson, Vinny Kaur, Prabhjit Singh, Sofia Ramachandran, Radhika P. Jyothi, Vislavath Mahesh, Karthik V. Takkar, Aastha Chandak, Giriraj Singh, Ramandeep |
author_sort | Wilson, Vinny |
collection | PubMed |
description | BACKGROUND: Leber hereditary optic neuropathy (LHON) is a maternally inherited disease resulting in irreversible visual loss usually in patients belonging to the age group of 15–35 years. Clinically, the patients present with sequential or bilateral, painless, progressive visual loss with central (or ceco-central) scotomas. Although the three mutations, namely, G11778A, T14484C, and G3460A contribute to >95% of LHON cases globally, the relative frequency of each mutation varies. AIMS AND OBJECTIVES: We aimed to assess the clinical and genetic profile of patients with mutation-positive LHON at a north Indian tertiary care center. MATERIALS AND METHODOLOGY: One hundred sixty-one patients (61 prospective and 100 retrospective) presenting with the clinical diagnosis of LHON were screened for the three known mitochondrial mutations (G1178A, G3460A, T14448C). Patients were assessed for detailed clinical, ophthalmological, and neurological examinations. Five milliliter of blood sample was taken to assess the three known mutations using DNA isolation and Sanger sequencing. RESULTS AND DISCUSSION: Clinical profile of 83 patients with both positive and negative mutations was analyzed. Twenty-three out of 161 patients (14.3%) tested positive for either of the three mutations. The majority of the patients harbored G11778A mutation (56.52%) followed by T14484C (34.78%) and G3460A (8.69%). No statistical difference could be noted between the clinical profiles of mutation-negative and -positive patients. |
format | Online Article Text |
id | pubmed-9795704 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-97957042022-12-29 Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts Wilson, Vinny Kaur, Prabhjit Singh, Sofia Ramachandran, Radhika P. Jyothi, Vislavath Mahesh, Karthik V. Takkar, Aastha Chandak, Giriraj Singh, Ramandeep Ann Indian Acad Neurol Neuro-Ophthalmology Supplement BACKGROUND: Leber hereditary optic neuropathy (LHON) is a maternally inherited disease resulting in irreversible visual loss usually in patients belonging to the age group of 15–35 years. Clinically, the patients present with sequential or bilateral, painless, progressive visual loss with central (or ceco-central) scotomas. Although the three mutations, namely, G11778A, T14484C, and G3460A contribute to >95% of LHON cases globally, the relative frequency of each mutation varies. AIMS AND OBJECTIVES: We aimed to assess the clinical and genetic profile of patients with mutation-positive LHON at a north Indian tertiary care center. MATERIALS AND METHODOLOGY: One hundred sixty-one patients (61 prospective and 100 retrospective) presenting with the clinical diagnosis of LHON were screened for the three known mitochondrial mutations (G1178A, G3460A, T14448C). Patients were assessed for detailed clinical, ophthalmological, and neurological examinations. Five milliliter of blood sample was taken to assess the three known mutations using DNA isolation and Sanger sequencing. RESULTS AND DISCUSSION: Clinical profile of 83 patients with both positive and negative mutations was analyzed. Twenty-three out of 161 patients (14.3%) tested positive for either of the three mutations. The majority of the patients harbored G11778A mutation (56.52%) followed by T14484C (34.78%) and G3460A (8.69%). No statistical difference could be noted between the clinical profiles of mutation-negative and -positive patients. Wolters Kluwer - Medknow 2022-10 2022-10-19 /pmc/articles/PMC9795704/ /pubmed/36589039 http://dx.doi.org/10.4103/aian.aian_532_22 Text en Copyright: © 2022 Annals of Indian Academy of Neurology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Neuro-Ophthalmology Supplement Wilson, Vinny Kaur, Prabhjit Singh, Sofia Ramachandran, Radhika P. Jyothi, Vislavath Mahesh, Karthik V. Takkar, Aastha Chandak, Giriraj Singh, Ramandeep Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts |
title | Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts |
title_full | Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts |
title_fullStr | Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts |
title_full_unstemmed | Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts |
title_short | Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts |
title_sort | clinical profile of patients with leber hereditary optic neuropathy (lhon): an ambispective study of north indian cohorts |
topic | Neuro-Ophthalmology Supplement |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795704/ https://www.ncbi.nlm.nih.gov/pubmed/36589039 http://dx.doi.org/10.4103/aian.aian_532_22 |
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