Study of retinal structure and function in retinal disease

Recruitment & Eligibility

Status: Ongoing

Sex: All

Target Recruitment: 40

Inclusion Criteria

1. Control
1.1. Adult between ages of 18 – 80 years old
1.2. Capable of performing all of the tests in the study procedures
1.3. Able to give informed consent to all of the procedures.
2. Late-onset retinal degeneration
2.1. Adult between ages of 18 – 80 years old
2.2. Capable of performing all of the tests in the study procedures
2.3. Able to give informed consent to all of the procedures
2.4. Have a confirmed genetic diagnosis of L-ORD

Exclusion Criteria

1. Healthy control
1.1. Younger than 18 and older than 80 years old
1.2. Inability of participant to provide informed consent
1.3. Withdrawal of consent
1.4. BCVA of less than 6/12 in either eye
1.5. Participants with a spherical equivalent of greater than 4 dioptres or astigmatism greater than 2 dioptres
1.6. Taking any medication that can affect retinal function (e.g. Hydroxychloroquine, Deferasirox, Vigabatrin).
1.7. Known to have any ocular condition that will affect test results/ability to test:
1.7.1. Inherited retinal condition
1.7.2. Glaucoma
1.7.3. Age related macular degeneration
1.7.4. Amblyopia
1.7.5. Nystagmus
1.7.6. Corneal or other media opacity
1.8. Known to have any medical condition that will affect test results/ability to test:
1.8.1. Epilepsy
1.8.2. Raised intracranial pressure
1.8.3. Multiple sclerosis.
2. Late-onset retinal degeneration
2.1. Younger than 18 and older than 80 years old
2.2. Inability of participant to provide informed consent
2.3. Withdrawal of consent
2.4. Participants with a spherical equivalent of greater than 4 dioptres or astigmatism greater than 2 dioptres
2.5. Have loss of sufficient retinal structure to image (absent or substantially disrupted ellipsoid zone on SD-OCT)
2.6. Taking any medication that can affect retinal function (e.g. Hydroxychloroquine, Deferasirox, Vigabatrin)
2.7. Known to have any ocular condition that will affect test results/ability to test:
2.7.1. Nystagmus
2.7.2. Corneal or other media opacity
2.8. Known to have any medical condition that will affect test results/ability to test:
2.8.1. Epilepsy
2.8.2. Raised intracranial pressure
2.8.3. Multiple sclerosis.

Study & Design

Study Type: Other

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
1. Recruitment rate recorded as number of eligible participants who consent to participate in study by recruitment end date.<br>2. Attrition rate, recorded as the number of participants who consent to participate that remain in the study until the end of their involvement in study (after undergoing all study procedures).<br>3. Success rate of AOSLO imaging sessions in recruited participants in both:<br>3.1. Healthy controls<br>3.2. Late-onset retinal degeneration <br>

Secondary Outcome Measures

Name	Time	Method
1. Photoreceptor mosaic metrics measured using Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO) at baseline:<br>1.1. Photoreceptor density<br>1.2. Photoreceptor arrangement<br>1.2.1. Intercell distance<br>1.2.2. Voronoi analysis<br>2. Fixation stability measured using AOSLO at baseline.<br>3. Macular function measured from the amplitude of the P1 component of the multifocal electroretinogram at baseline. <br>4. Retinal function measured from the amplitude of a- and b-wave components of the full-field electroretinogram at baseline.<br>5. Retinal thickness measured from optical coherence tomography (OCT) at baseline. <br>6. Ellipsoid zone intensity measured from OCT at baseline.<br>7. Visual function measured using:<br>7.1. The ETDRS visual acuity at baseline (best corrected visual acuity (BCVA))<br>7.2. The low luminance visual acuity at baselines (ETDRS BCVA +2 neutral density filter)<br>7.3. Contrast sensitivity measured using Pelli Robson score at baseline. <br>