2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Color Vision Deficiency: A Case Report and Call to Action for Screening and Education

Pdf Summary

This case report discusses a 61-year-old male with red-green color vision deficiency (CVD) and the need for screening and education surrounding this condition. The patient had difficulty distinguishing colors in childhood and hesitated to pursue work that required precise hue discrimination. In 2022, he sought optometric care and was confirmed to have red-green CVD through an evaluation with pseudoisochromatic plates. The patient had a family history of CVD, with three of his four brothers also experiencing similar color vision deficits. The patient admitted to delaying evaluation for CVD due to concerns of employment discrimination, as his brother was ineligible for national security employment because of his CVD. <br /><br />The report highlights the importance of CVD screening in childhood and educating patients and their families about the causes, inheritance patterns, and impact on employment for individuals with CVD. The case also emphasizes the need for public health efforts to screen, educate, and provide genetic counseling for CVD given its frequency and the lack of general population knowledge about the condition. Further research is needed to explore the role of public health professionals, optometrists, and genetics providers in these efforts.<br /><br />CVD is a condition that impairs the ability to differentiate shades of color due to dysfunction or absence of certain photoreceptors in the retina. The most common form of CVD is red-green and primarily affects males of Northern European ancestry. It is often genetically inherited and can have implications for employment opportunities in various fields. Despite recommendations for comprehensive optometric examinations in children, there are currently no large-scale education or screening programs for CVD. This case report serves as a call to action to address these gaps in screening, education, and genetic counseling for CVD.

Asset Subtitle

Presenting Author - Lauren Beretich, PhD, MS, CGC; Co-Author - Kaitlan Beretich, PhD;

Meta Tag

Clinical History

Counseling

Education

Eye disorders

Risk Assessment

X-Inactivation/X-Linked Disease

Co-Author Kaitlan Beretich, PhD

Presenting Author Lauren Beretich, PhD, MS, CGC

Keywords

color vision deficiency

red-green CVD

screening

education

hue discrimination

optometric care

pseudoisochromatic plates

family history

employment discrimination

public health efforts