adaptive optics retinal imaging in inherited and acquired retinal disorders

Conditions: Genetic Disease; Inherited Disease

Summary: this is a prospective observational study. the aim of the study is to understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations in inherited and acquired retinal disorders. the study would use adaptive optics (ao) technology to assist in-vivo visualization of these retinal structures and ascertain changes from normal. further, by using the ao imaging in patients before and after treatments, this study aims to better understand the effect of various interventions and develop ao as an outcome measure in various retinal disorders.

the investigators plan to recruit approximately 200 participants (approximately 175 study subjects and 25 control group) having an inherited or acquired retinal disease. the study participants will be screened based on inclusion and exclusion criteria. eligible study and control participants will be consented prior to conducting any study related procedures. for the data collection, patient information including previous eye examination, past medical history and family history will be obtained from hospital charts. patients will be asked to return for a follow-up visit at 6-months and at 1 year. the objectives of the study include: 1. to test ao imaging in patients with well characterized genetic and non-genetic diseases in an attempt to - to better understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations - to utilize the ao imaging in patients before and after treatments to better understand the effect of the intervention and develop ao as an outcome measure in various retinal disorders 2. to test ao in healthy controls to serve as internal controls patients with inherited or acquired retinal disease who satisfy the inclusion criteria and those who consent for the study will be screened for the study. study participants and participants from the cohort group will then have a 6 month or annual follow-up visit as per the study protocol. the primary outcome measures will be the quantify cone photoreceptors (density and spacing), retinal pigment epithelium density and retinal blood vascular flow in retinal disorders and compare it with controls. this will be calculated using software algorithms incorporated within ao machine (rtx1). patient data will be compared with age-matched control data. the secondary outcome measure would be to ascertain if using rtx1, the rate of progression of retinal disease or treatment effect can be quantified. to accomplish this, areas that were imaged at baseline will be reimaged at the follow up visits. since the rtx1 machine has the capability to identify exact retinal location between the visits, these follow up images will be compared to baseline images to determine rate of disease progression or effectiveness of treatment.

Eligibility criteria:
inclusion criteria: 1. consent provided 2. aged 5 - 70 years 3. diagnosed with well documented retinal disorder control group inclusion criteria: 1. subjects aged 5 years - 70 years with normal eye examination. 2. patients with strabismus and otherwise normal visual acuity and eye examination 3. patients with unilateral eye diseases such as cataract, with a normal eye exam in the fellow eye. exclusion criteria: 1. inability of the subject to maintain a stable position while seated 2. uncontrolled nystagmus, trembling or movements of the eyes or the head 3. presence of cataract or any opacity in the front of the eye that obscures retinal imaging 4. any general disease such neurological disease which could affect vision and the retina. 5. history of previous uveitis, glaucoma, previous intra-ocular surgery or photodynamic therapy 6. high refractive errors (\> +15d or \< -15d) that cannot be corrected by the adaptive optics system. 7. patients who have a history of photosensitivity or take any medicine that cause photosensitivity as a side effect 8. patients who are aphakic after cataract surgery