Description of the Achromatopsia
The disease is defined as a disorder where a person experiences a partial or total deficiency of the ability to differentiate colors. People suffering from the disease and having complete achromatopsia are unable to perceive any colors. Those people have the capability of only seeing white and black. People suffering from partial achromatopsia experience a minor form of the disease where the situation allows them to have some color judgment (Andersen et al., 2023). The disease is caused due to variations in none of the several genes CNGE3, CNGB3, GNAT2, PDE6C, OR PDE6H (Sun et al., 2020). The illness affects the retina and its ability to see delicate objects clearly.
Signs and Symptoms of Achromatopsia
People suffering from achromatopsia experience symptoms such as a complete inability to see color, extreme sensitivity to light, photophobia, and reduced visual ability. When exposed to bright light conditions, people suffering from the disease experience difficulties and have a poor depth perception of colors (Brunetti-Pierri et al., 2021). The ability to see fine details reduces in people suffering from the disease, which leads to difficulties in recognizing faces, reading small print, or seeing distant objects clearly (MedlinePlus, n.d). People suffering from the condition also experience visual impairments and the inability to focus on objects.
Ethical and Legal Issues Related to Achromatopsia
The ethical issues related to achromatopsia include access to treatment, informed consent and decision-making, and genetic testing and privacy. The accessibility of treatment interventions for the disease should be available for a diverse range of individuals (Méjécase et al., 2020). People suffering from the disease must fully understand any treatment intervention’s risks, benefits, and potential outcomes. Lack of availability or financial constraints may lead to ethical concerns since individuals with the disease cannot access the possible beneficial treatments. Informed consent arises when the patient must decide about any treatment option. The legal issues associated with achromatopsia include employment discrimination, accessibility laws, and driving and licensing (Larson, 2020). In places where vision requirements are vital for obtaining a driving license, legal issues could arise because people suffering from the disease do not meet the needs due to their color vision impairment. Individuals with achromatopsia may face discrimination, ultimately affecting their performance, access to public services, and information. However, specific legal frameworks like ADA have been designed to ensure equal access to public services.
Scope of Nursing Practice Concerning Achromatopsia
The scope of nursing practice for achromatopsia includes patient education, visual care, and assistive devices. Nurses can educate individuals suffering from the disease about their conditions and how to cope with their life challenges (Chan, Seitz & Käsmann-Kellner, 2023). Nurses can also show patients suffering from the disease how to protect their eyes from bright lights and also how to adhere to the prescribed treatment interventions. The patient education aims to empower individuals with achromatopsia to adopt healthy lifestyles and make informed decisions for their healthcare.
In conclusion, achromatopsia is a rare genetic condition that results in the inability to perceive colors. People suffering from the disease experience extreme light sensitivity and have reduced visual ability where they cannot see clearly fine details. Individuals with achromatopsia face legal and ethical challenges, such as discrimination when accessing care. Various nursing practices help people suffering from the condition by providing care and support during treatment interventions. Nurses may improve the quality of life and well-being of individuals with achromatopsia by facilitating the use f assistive devices to offer visual care and patient education.
References
Andersen, M. K. G., Bertelsen, M., Grønskov, K., Kohl, S., & Kessel, L. (2023). Genetic and Clinical Characterization of Danish Achromatopsia Patients. Genes, 14(3), 690. https://doi.org/10.3390/genes14030690
Brunetti-Pierri, R., Karali, M., Melillo, P., Di Iorio, V., De Benedictis, A., Iaccarino, G., … & Simonelli, F. (2021). Clinical and molecular characterization of achromatopsia patients: A longitudinal study. International Journal of Molecular Sciences, 22(4), 1681. https://doi.org/10.3390/ijms22041681
MedlinePlus (n.d). Achromatopsia: MedlinePlus Genetics. Medlineplus.gov. https://medlineplus.gov/genetics/condition/achromatopsia/#causes
Sun, W., Li, S., Xiao, X., Wang, P., & Zhang, Q. (2020). Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing. Molecular vision, 26, 588.
Chan, C., Seitz, B., & Käsmann-Kellner, B. (2023). Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia. Journal of Personalized Medicine, 13(7), 1106.
Larson, D. A. (2020). ODR Accessibility for Persons with Disabilities: We Must Do Better. Online Dispute Resolution: Theory and Practice (2nd ed. Eleven International Publishers, Fall 2020 Forthcoming).
Méjécase, C., Malka, S., Guan, Z., Slater, A., Arno, G., & Moosajee, M. (2020). A practical guide to genetic screening for inherited eye diseases. Therapeutic advances in ophthalmology, 12, 2515841420954592.
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