Retinal Imaging in Patients With Inherited Retinal Degenerations

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.

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