CNGA3 mutations in UAE families with achromatopsia
Author Information
Author(s): Ahuja Yachna, Kohl Susanne, Traboulsi Elias I.
Primary Institution: Cleveland Clinic Foundation
Hypothesis
What are the mutations responsible for achromatopsia in two families from the United Arab Emirates?
Conclusion
Achromatopsia in these two United Arab Emirates families results from two different mutations in the CNGA3 gene.
Supporting Evidence
- All patients were extremely light sensitive and had reduced visual acuity and no color perception.
- Two mutations in CNGA3 were identified: Arg283Trp and Gly397Val.
- Family A had individuals with both homozygous and compound heterozygous disease.
- Family B had two brothers who were homozygous for the Arg283Trp mutation.
Takeaway
This study found that two families in the UAE have a rare eye condition called achromatopsia caused by different gene mutations.
Methodology
Clinical examinations and molecular genetic testing for CNGA3 and CNGB3 mutations were performed on seven patients from three families.
Limitations
The study did not include parents for segregation analysis, limiting the confirmation of independent inheritance of mutations.
Participant Demographics
The study included 3 females and 4 males aged 5 to 16 years from two families.
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