High Resolution Retinal Imaging in Patients With Inherited Retinal Degenerations

  • End date
    Nov 24, 2024
  • participants needed
  • sponsor
    University of California, San Francisco
Updated on 24 October 2022
retinal degeneration
Accepts healthy volunteers


The purpose of this study is to determine whether the structure and function of the human retina can be studied with high resolution in patients with inherited retinal degenerations using the Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO).


Retinal degenerations are a group of inherited diseases that result in progressive death of the vision cells, or photoreceptors. Currently there is no treatment or cure for any of these diseases and they ultimately cause blindness in affected patients. We propose to investigate the structure and function of the human retina in patients with inherited retinal degenerations using the Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO). We will correlate the images of retinal structure produced by the AOSLO with Optical Coherence Tomography (OCT) images of the retina. In addition, we will study the vision of individual photoreceptors using the AOSLO to perform a novel technique, microperimetry, in patients with retinal degenerations. We will compare the results of microperimetry with standard measures of vision used in Ophthalmology clinics, including visual acuity, automated perimetry, fundus photography and multifocal electroretinography (mfERG).

The results of this work will provide insight into the mechanism of vision loss among patients with diverse retinal disorders. Specifically, we will study cone structure and function in patients with retinal degenerations with different etiologies: retinitis pigmentosa, a disease usually caused by rod-specific mutations; cone-rod dystrophy, which primarily affects cones rather than rods; and Best's disease, a disease caused by a defect in the retinal pigment epithelium (RPE). In addition, we will study the effect that lipofuscin, a byproduct of photoreceptor metabolism that accumulates in the RPE in diseases such as Stargardt's disease, Best's disease and age-related macular degeneration (AMD), has on cone structure and function, with the goal of understanding how these diseases cause blindness. Better understanding of the mechanisms of vision loss in patients with retinal degeneration should ultimately lead to treatments for these blinding conditions.

Condition Retinitis Pigmentosa
Clinical Study IdentifierNCT00254605
SponsorUniversity of California, San Francisco
Last Modified on24 October 2022


Yes No Not Sure

Inclusion Criteria

Subjects must speak and understand English
Subjects must have pupils that dilate to at least 6 millimeters diameter
Subjects must be willing to travel to University of California (UC) Berkeley
Subjects are financially responsible for their travel to the San Francisco area if they are not San Francisco residents

Exclusion Criteria

Irregular corneal astigmatism (keratoconus)
Prior refractive surgery
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