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Abstract

January - March 2023 | Vol. 16 | Issue 1 | 12-15
Genetic Counselling and its Challenges in Leber Hereditary Optic Neuropathy: Two Illustrative Clinical Scenarios from India
Aashita Takkar, Veronica Arora, Swasti Pal, Ratna Dua Puri
Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India
Address for Correspondence Email: ratnadpuri@yahoo.com
 
Abstract
Leber hereditary optic neuropathy (LHON) is a genetic disorder caused due to variations in the mitochondrial genome. Individuals with this condition present in the second/third decade with progressive central painless vision loss. Common pathogenic variants, m.3460G>A in MT-ND1, and m.11778G>A, and m.14484T>C in MT-ND6, are reported in around 95% of patients. Multiple studies with descriptions of phenotype, molecular basis, and prognosis are reported, however, only a few studies illustrate the importance of genetic counselling. This is a retrospective study. Here we aim to address and describe the challenges faced in the process of genetic counselling of two patients diagnosed with LHON and explain how these could be overcome. We highlight the importance of information on genotype-phenotype correlation, and cascade-screening in LHON and elaborate on the significance of psychosocial counselling.
 
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