Related Experiment Video
Updated: Jan 18, 2026
09:17
Using Retinal Imaging to Study Dementia
Published on: November 6, 2017
22.2K
Evaluation of Structural and Functional Retinal Changes in the Achromatopsia Spectrum with Multimodal Imaging
Deniz Altinbay1,2,3, Huban Atilla2,4
1Private Nivgoz Eye Center, Adana, Turkiye.
Current Eye Research
|January 16, 2026
Summary
Achromatopsia (ACHM) is a rare inherited retinal disorder. Multimodal imaging reveals significant photoreceptor damage, ellipsoid zone loss, and foveal hypoplasia in ACHM patients.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Achromatopsia (ACHM) is a rare inherited retinal disorder characterized by reduced visual acuity, photophobia, and nystagmus.
- Limited literature exists due to the rarity of ACHM, necessitating further investigation into its structural and functional retinal manifestations.
Purpose of the Study:
- To evaluate the structural and functional retinal changes in patients with Achromatopsia using multimodal imaging.
- To characterize the spectrum of retinal alterations in ACHM and correlate imaging findings with disease progression.
Main Methods:
- A prospective, cross-sectional study involving 62 eyes from 31 ACHM patients.
- Multimodal imaging assessments included macular pigment optical density (MPOD), microperimetry, contrast sensitivity (CS), fundus autofluorescence (FAF), and optical coherence tomography (OCT).
- Patients were staged based on photoreceptor layer damage.
Main Results:
- 72% of eyes exhibited photoreceptor damage, with significant ellipsoid zone loss (59%) and foveal hypoplasia (52%).
- Reduced macular pigment optical density (MPOD) and retinal sensitivity were observed.
- Significant correlations were found between ellipsoid zone integrity and age, central macular thickness (CMT), and FAF patterns.
Conclusions:
- Achromatopsia is associated with widespread photoreceptor damage, ellipsoid zone loss, and foveal hypoplasia.
- Multimodal imaging provides valuable insights into the structural and functional retinal changes in ACHM.
- Findings may aid in designing future clinical trials for ACHM therapies.
