Achromatopsia: Case Presentation and Literature Review Emphasising the Importance of Genetic Testing for Disease Diagnosis, Management and Prenatal Diagnosis | Chapter 8 | Advanced Concepts in Medicine and Medical Research Vol. 9

This unit reports the cases of two siblings (8 and 5 age old) who were pronounced with inability to distinguish one or more colors after genetic study. Achromatopsia (bar monochromatism) is a rare autosomal recessive form of conoid dysfunction that is from a near normal fundus characteristic, nystagmus, a nonrecordable photopic ERG, and normal to familiar normal scotopic ERG that remains constant. The genetic approach for these subjects is currently an important issue, and deoxyribonucleic acid therapy is an continuous therapeutic option earlier being studied in dispassionate trials.We report the case of two siblings (8 and 5 age old) overwhelmed by achromatopsia. They carry compound heterozygous mutations in the CNGA3 deoxyribonucleic acid at positions 1306 and 1279 in exon 8 (c.136C> T,  p.Arg436Trp and c.1279C> T, p.Arg427Cys).Genetic experiment is crucial to confirm the disease in such cases. Microscopic genetic testing approaches that maybe considered involve targeted analysis for average variants, the use of a multigene committee, or comprehensive genomic testing, usually exome sequencing. The parents were raise to have one of the variants in a heterozygous condition. This is the first stated case of achromatopsia in India.This report climaxes the significance of genetic experiment even more. It emphasizes that exome sequencing is a better demonstrative strategy when paired accompanying standard testing, exceptionally for disorders like achromatopsia and others place misdiagnosis might happen from depending only on clinical examinations.

Author(s) Details:

Kumari Pritti,
Department of Obstetrics & Gynaecology, Institute of Kidney Diseases & Research Centre, Ahmedabad, India.

Vineet Mishra,
Department of Obstetrics & Gynaecology, Institute of Kidney Diseases & Research Centre, Ahmedabad, India.

Udhaya Kotecha ,
Division of Inherited Disorders, Neuberg Center for Genomic Medicine, Ahmedabad, India.

Somesh Aggarwal,
M & J Regional Institute of Ophthalmology, Ahmedabad, India.

Please see the link here: https://stm.bookpi.org/ACMMR-V9/article/view/12852