Microperimetry Sensitivity Correlates to Structural Macular Changes in Adolescents with Achromatopsia Unlike Other...

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Achromatopsia (ACHM) is a rare, inherited condition causing cone dysfunction.
• Gene therapies for ACHM are in clinical trials, necessitating reliable outcome measures.
• Understanding the relationship between structural and functional changes is key for patient management.

Purpose of the Study:

• To investigate correlations between optical coherence tomography (OCT) findings and visual functions in ACHM patients.
• To identify sensitive visual parameters for monitoring disease progression and treatment efficacy in ACHM.

Main Methods:

• Eight adolescents with ACHM underwent macular microperimetry, OCT, best-corrected visual acuity (BCVA), low luminance visual acuity (LLVA), near vision acuity (NVA), and contrast sensitivity (CS) testing.
• Genetic analysis identified variants in CNGA3 and CNGB3 genes.
• OCT staging was correlated with microperimetry sensitivity at the central foveal point and perifoveal rings.

Main Results:

• OCT staging significantly correlated with microperimetry sensitivity in the central foveal point (p=0.0286) and perifoveal rings (p=0.0008, p=0.0014).
• No significant correlations were observed between OCT staging and visual acuity (VA) or contrast sensitivity (CS).
• CNGA3 and CNGB3 gene variants were identified in the patient cohort.

Conclusions:

• Microperimetry sensitivity is the only visual function test that correlates with macular morphological changes in OCT for ACHM.
• Microperimetry sensitivity is a valuable tool for natural history studies and evaluating gene therapies for achromatopsia.
• OCT staging and microperimetry are essential for comprehensive assessment in achromatopsia research.