Retinal Imaging in Patients With Inherited Retinal Degenerations

Overview

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).

Full Title of Study: “High Resolution Retinal Imaging in Patients With Inherited Retinal Degenerations”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: October 2023

Detailed Description

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.

Clinical Trial Outcome Measures

Primary Measures

  • Cone spacing
    • Time Frame: 24 months
    • The current study will assess cone spacing twice at baseline and every 6 months for 30 months. The primary outcome will be measured at 24 months.

Secondary Measures

  • Visual acuity
    • Time Frame: 24 months
    • Visual acuity will be measured every 6 months for 30 months with the primary outcome measure at 24 months.

Participating in This Clinical Trial

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 UC Berkeley.
  • Subjects are financially responsible for their travel to the San Francisco area if they are not San Francisco residents.

Exclusion Criteria

  • Cataract
  • Irregular corneal astigmatism (keratoconus)
  • Prior refractive surgery

Gender Eligibility: All

Minimum Age: 13 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • University of California, San Francisco
  • Collaborator
    • University of California, Berkeley
  • Provider of Information About this Clinical Study
    • Principal Investigator: Jacque Duncan, Professor, Clinical Ophthalmology – University of California, San Francisco
  • Overall Official(s)
    • Jacque L. Duncan, M.D., Principal Investigator, University of California, San Francisco
  • Overall Contact(s)
    • Jacque L. Duncan, M.D., 415-514-4241, jacque.duncan@ucsf.edu

Citations Reporting on Results

Yoon MK, Roorda A, Zhang Y, Nakanishi C, Wong LJ, Zhang Q, Gillum L, Green A, Duncan JL. Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1838-47. doi: 10.1167/iovs.08-2029. Epub 2008 Nov 7.

Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci. 2007 Jul;48(7):3283-91.

Roorda A, Zhang Y, Duncan JL. High-resolution in vivo imaging of the RPE mosaic in eyes with retinal disease. Invest Ophthalmol Vis Sci. 2007 May;48(5):2297-303.

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