Lessons learned from family history in ocular genetics. Issue 5 (July 2015)

• Record Type: Journal Article
• Authors: Marino, Meghan J.
• Is Part Of: Current opinion in ophthalmology. Volume 26:Issue 5(2015:Sep.)
• Publication Date: 2015-07
• Subjects: family history -- genetic -- hereditary -- pedigree; Ophthalmology -- Periodicals; Eye Diseases -- Indexes; Eye Diseases -- Periodicals; Review Literature -- Indexes; Review Literature -- Periodicals; Vision Disorders -- Indexes; Vision Disorders -- Periodicals; 617.7
• DOI: 10.1097/ICU.0000000000000192
• Languages: English
• ISSNs: 1040-8738

Abstract

Abstract : Purpose of review: Given the vast genetic and phenotypic heterogeneity seen in ocular genetic disorders, considering a patient's clinical phenotype in the context of the family history is essential. Recent findings: Clinicians can improve patient care by appropriately incorporating a patient's family history into their evaluation. Obtaining, reviewing, and accurately interpreting the pedigree are skills geneticists and genetic counselors possess. However, with the field of ophthalmic genetics vastly growing, it is becoming essential for ophthalmologists to understand the utility of the pedigree and develop their abilities in eliciting this information. By not considering a patient's clinical history in the context of the family history, diagnoses can be missed or inaccurate. Summary: The purpose of this review is to inform ophthalmologists on the importance of the family history and highlight how the pedigree can aid in establishing an accurate genetic diagnosis. This review also provides to ophthalmologists helpful tips on eliciting and interpreting a patient's family history.