Article
The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individuals.
Ophthalmic genetics - 1 Oct 2026
Sonehra, Zaman Qaiser, Gul Hina, Najumuddin, Khan Waqas, Shaker Bilal, Ghani Gul, Hussain Mubarak, Owais Muhammad, Chaudhary Hammad Tufail, Anas Muhammad, Ul Haq Ihtisham, Khan Sabar, Khan Zohaib, Ahmad Fuzail, Rahman Gauhar, Muhammad Khan Rafiq, Nasir Jamal, Jelani Musharraf
Abstract excerpt
INTRODUCTION: Achromatopsia (ACHM) is a rare, inherited disorder in which patients cannot distinguish colors. The clinical phenotypes include light sensitivity, impaired color vision, partial or complete loss of photoreceptor function, reduced visual acuity and nystagmus. To date, six genes (CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, and ATF6) are known to be the primary causes of ACHM, affecting the normal function of...
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- Humans
- Color Vision Defects
- Female
- Pedigree
- Consanguinity