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Current Vision Studies

Children & adults with heritable retinal disorders
Ages 8-75 years old


Heritable retinal disorders that we study include congenital stationary night blindness (CSNB), X-linked retinoschisis (XLRS or XJR), Stargardt disease, vitelliform dystrophy, retinitis pigmentosa, Leber congenital amaurosis, Usher syndrome, Bardet Biedl syndrome, ocular albinism, achromatopsia, and cone-rod dystrophy. To learn more about these conditions, please visit Information for Patients & Families.


Study 1: Photoreceptor Function in Individuals with Heritable Retinal Disorders
We are currently recruiting only patients with CSNB and XLRS for this study

The study will involve one visit, in which you/your child will have visual acuity tested by reading a letter chart. Following this, we will take a few pictures of your/your child's eyes using Optical Coherence Tomography and Fundus Photography. We will then use an autorefractor to measure you/your child's need for corrective lenses. All of these preliminary components are typical of a clinical visit.

You/your child will then complete the main portion of the study, the dark adapted threshold (DAT) test. We would ask you/your child to sit in a dark room for 30 minutes so that your/your child's eyes can adapt to the darkness. After 30 minutes, you/your child would be shown dim spots of light on a screen and asked to point to where the spots of light are seen.

The entire visit would last approximately one and one half hours, and you will receive a token payment and a Boston Children's Hospital parking voucher as compensation.

To see if you/your child qualifies for this study or to find out more information, please contact us.

Study 2: Retinal Imaging of Ocular Conditions

For this study, we are using optical scans to generate highly detailed images of the retina.  The retina is the thin tissue in the back of the eye. Retinal disorders can lead to loss of vision, even blindness.  The prime site of disease is in the rods and cones of the retina. The rods and cones catch light and turn it into a visual signal.

The goal of our study is that the pictures we take of the retina and other eye structures will help explain how these retinal disorders cause problems with vision. Children and adults between 8 and 75 years old may participate.  

The study visit will begin by testing visual acuity by reading a letter chart. We will then use an autorefractor to measure your/your child's need for corrective lenses. Following this, an ophthalmologist will briefly examine your/your child's eyes. We would then take a few pictures of your/your child's eyes using Optical Coherence Tomography and Fundus Photography. All of these preliminary components are typical of a clinical visit.

Dilating drops, like those used routinely for eye exams, will be administered to enlarge the pupils. After the pupil has dilated, which takes about 30 minutes, we will begin the main portion of the study. We will take a series of retinal scans of your/your child's eyes while sitting and looking at a fixation target. During the retinal imaging, it is important to sustain attention and keep the eyes still, but you/your child can take periodic breaks.  The scans are completely non-invasive and nothing touches the eyes.


Risks involved in this study are the momentary discomfort of dilating drops and unlikely allergy to the drops. Also, your/your child's vision will be blurry and your/your child's eyes will be sensitive to light for a few hours.

All research procedures are typically completed in one session of 2-3 hours, but we may request a follow up visit of 1-2 hours. To thank you for your time, for each session we will provide you with a token payment and a parking voucher for the Boston Children's Hospital garage.

Participation in this research will be of no direct benefit to you/your child, but we hope that the data obtained will lead to a better understanding of vision in children and adults with heritable retinal disorders.


To see if you/your child qualify for this study or to find out more information, please contact us.

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