
In the age of fast-evolving medicine, as we understand disease pathology and the role of genetic mutations in causation more clearly, advancement in treatment methodologies such as gene therapy is gaining pace. Most eye disorders, especially in the pediatric population are attributable to a genetic etiology. In the current scenario, apart from the clinical assessment and management, an ophthalmologist is expected to provide genetic counseling and appropriate testing for the above. This includes the provision of an accurate diagnosis, prognostication of the course of the disease, estimating the risk to the family members, and outlining the systemic implications if any. However, to understand the genetic etiology of any disorder, careful analysis of generations of family history, their medical records, and deducing patterns of inheritance called “pedigree analysis” remains at the core of these discoveries. Although genetic disorders account for most of the diseases encountered in ophthalmic practice, the familial inheritance pattern is seldom sought. This article aims to deliver a basic introduction to pedigree charting and analysis with specific examples in ophthalmology. It sheds light on the symbols used to create a pedigree chart and step-by-step instructions for its construction. It also aims to teach the art of deducing inheritance patterns with important tips and tricks for easy interpretation. Nonspecific and atypical pedigrees that are hard to deduce have also been discussed while highlighting various advantages and shortcoming of using this method.
genetic counseling, hereditary disorders, R, pedigree charting, Medicine
genetic counseling, hereditary disorders, R, pedigree charting, Medicine
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