Enrolling at Boston Childrens Hospital

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Information for research participation at Boston Children's Hospital

Your participation in the study should take no more than an hour. There is no fee for you to participate, as the costs associated with this study are covered by research funds.

Potential study participants will be identified from Ophthalmology Department medical records/via schedules for upcoming appointments and contacted by mail. They will be sent an introductory letter and if interested in enrolling, the individual and his/her family will be invited to enroll on the day of their next scheduled routine appointment at Boston Children's Hospital.

For each participant, a full medical and family history will be obtained and any associated systemic abnormalities will be documented. Each affected individual will undergo evaluation of best-corrected visual acuity, external examination, visual fields, pupils, cycloplegic retinoscopy and a dilated fundus exam. The detailed sensorimotor exam will include strabismus measurements, stereoacuity testing, extraocular motility evaluation and photographic documentation. An abbreviated examination will be completed by an orthoptist for the relatives of the subject. This examination will include evaluation of best-corrected visual acuity, external examination, pupils, sensorimotor evaluation, manifest refraction with an autorefractor and undilated ophthalmoscopy.

Each participant will provide:

  1. Informed Consent - All participants need to carefully read and sign informed consent forms, authorizing our lab to perform studies on their samples. Each participant family member needs to sign a consent form. A parent/guardian should provide consent if the participant is less than 18 years old. Participants will also be asked to complete a participation data sheet.
  2. Permission for Release of Medical Information - We will ask you to sign a medical release form providing us with permission to obtain medical records that are relevant to the diagnosis in the family.
  3. Salivary specimen (or occasionally a blood sample) - We ask for a saliva sample from all available and consenting family members, from which we will extract DNA. Providing the sample is very quick and easy and simply requires your 'spitting' into a collection vessel. It is necessary, however, that you do not eat for 30 minutes prior to providing the sample. Occasionally, if the participant is very young or unable to provide a salivary specimen it may be necessary to ask for a blood sample. The DNA will be screened for alterations in genes that may cause the disease in the family.

Please click on research participation forms to access the forms we use for enrollment purposes.

Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

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Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
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This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

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You will be contacted within 1 business day.

If you have questions or would like more information, please call:

617-355-6000 +1-617-355-6000
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The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
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