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Delhi Journal of Ophthalmology
Article . 2023 . Peer-reviewed
Data sources: Crossref
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
Delhi Journal of Ophthalmology
Article . 2023
Data sources: DOAJ
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The Role of Pedigree Charting and Analysis in Ophthalmology

Authors: Ria Ratna; Shailja Tibrewal;

The Role of Pedigree Charting and Analysis in Ophthalmology

Abstract

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.

Related Organizations
Keywords

genetic counseling, hereditary disorders, R, pedigree charting, Medicine

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
gold