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Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing
Sylvia A Kugler1, Christophe Valmaggia1,2, Veit Sturm2,3
1Department of Ophthalmology, Cantonal Hospital St. Gallen, Switzerland.
Klinische Monatsblatter Fur Augenheilkunde
|September 15, 2023
Summary
Achromatopsia (ACHM) diagnosis requires integrated clinical and genetic testing. This approach aids in characterizing the disease and predicting its progression, crucial for patient management and genetic counseling.
Area of Science:
- Ophthalmology
- Medical Genetics
- Retinal Diseases
Background:
- Achromatopsia (ACHM) is a hereditary cone disease with stationary or progressive forms.
- Accurate diagnosis is vital for prognosis, genetic counseling, and low vision aid selection.
Purpose of the Study:
- To determine the necessary clinical and genetic diagnostic spectrum for characterizing Achromatopsia (ACHM).
- To investigate the correlation between clinical findings, genetic mutations, and disease progression in ACHM patients.
Main Methods:
- Retrospective analysis of 8 Achromatopsia (ACHM) patients.
- Comprehensive clinical phenotyping including color vision tests, fundus photography, autofluorescence (FAF), infrared (IR) imaging, OCT, and electroretinography.
- Genetic testing for ACHM-associated genes (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, ATF6).
Main Results:
- All patients exhibited photophobia and reduced visual acuity; 7/8 had nystagmus.
- Genetic testing confirmed Achromatopsia (ACHM) in 7 patients, identifying mutations in CNGA3 and CNGB3.
- Observed disease progression, including macular atrophy and cone-rod phenotypes, linked to specific digenic and compound heterozygous mutations.
Conclusions:
- Multimodal ophthalmological diagnostics combined with molecular genetics are essential for characterizing Achromatopsia (ACHM).
- This integrated approach aids in identifying disease modifiers and is strongly recommended for ACHM patient evaluation.
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