Blog: Offer support to patients with inherited eye diseases

December 5, 2019

Article

A doctor wearing a white coat reaches his hand inside

I recently wrote a blog about genetic testing. Within eye care, genetic testing is most commonly conducted for retinal disorders and a few corneal disorders. I admit I typically refer to a retinal specialist, discuss low vision, and move on to my next patient.

While genetic testing can direct treatment and identify those at risk, it is important to have support available when patients test positive. I have investigated resources, both for research and family support, for these patients.

Resources for patients with corneal dystrophy
A list of diseases with related resources can be found at DiseaseInfoSearch. com, but support resources are limited. There are not many support groups for corneal diseases specifically.

The National Organization for Rare Disorders has a corneal dystrophy page as well but support groups at the bottom of the this page are also limited.

The Corneal Dystrophy Foundation is a website offering information and support for patients with Fuch’s dystrophy. Avenues include The Fuch’s Friends online support group, the Facebook page, Twitter updates, local support group meetings, free literature, and instructional DVDs. The blog was updated in July 2019, and the events calendar is live for local support meetings.

Resources for patients with inherited retinal diseasesPediatric Retinal Research Foundation is a “community of supporters of children with blinding, retinal diseases and their families.” The Foundation funds and conducts research in the quest for a cure. Its mission is “to support the community of families impacted by blinding pediatric retinal diseases and champion the quest for cure.”

The group focuses on persistent fetal vasculature sydrome (PFVS), familial exudative vintroretinopathy (FEVR), congenital X-linked retinoschisis (CXLRS), Coats’ disease, Norrie disease, and retinopathy of prematurity (ROP).

The Foundation funds the Pediatric Retinal Research lab at Oakland University. Therapeutic drug testing as well as mentoring of students and fellows are conducted there. It has also developed the Ophthalmic Biobank, a database of tissue from patients with rare diseases affecting vision. The Foundation has a Facebook page, but it does not appear active.

Foundation Fighting Blindness is the largest private organization in the world funding research for treatments and cures for inherited retinal diseases (IRDs) and dry age-related macular degeneration (AMD).

The Foundation boasts 40 chapters around the U.S. which offer social and educational events. The events listing is updated and has many opportunities to become involved. It hosts webinars and teleconferences for patients and providers on the latest research and clinical trials. The Foundation is active on social media, including Facebook, Twitter, Instagram, and LinkedIn.

The Foundation currently funds 75 research projects for IRDs and dry AMD and funds academic eye research clinics including Massachusetts Eye and Ear, Wilmer Eye Institute at Johns Hopkins, and Casey Eye Institute at Oregon Health & Science University.

Patients can register with the Foundation’s patient registry MyRetinaTracker.org used by researchers and companies recruiting for clinical trials for emerging therapies. In addition, for a limited time the Foundation is offering genetic testing at no cost to patients registered in My Retina Tracker by approximately 200 physicians in the U.S.. The testing panel includes more than 260 genes known to be linked to IRDs. Genetic counseling is also free, if unavailable from the referring clinic.

American Macular Degeneration Foundation is funding two research fellowships and offers support for patients with macular degeneration. The group offers a cookbook with recipes that are good for overall health as well as macular health, educational DVDs, and a quarterly newsletter in normal and large-type print.

MD Support is another website with information about macular degeneration. General eye information, a bookstore, clinical trial listing, and links to publications are listed. Resources include links to U.S. agencies, assistive technology, financial assistance, low-vision devices and reading materials, and a list of the top 12 hospitals in eye care.

Support for overall vision loss, including retinal disease, diabetic eye disease, glaucoma and macular degeneration can be found at VisionAware. Information regarding vision-threatening conditions, emotional support, daily living activities with vision loss, and advice for employment is listed. Support groups include listings for low-vision services and education, several groups for the blind, caregivers, and a vision exchange. The group also offers a listing of assistive technology that may be helpful to patients with reduced visual acuity.