All healthcare professionals involved in IRD patient journey have a key role.

Knowledge of IRD symptoms, genetic testing, available treatments and clinical trials is of paramount importance to help IRD patients in planning their life and find the support they need. Once a healthcare professional suspects an IRD, referral to an IRD specialist is necessary. (Maldonado, et al. AAOpt 2020)

IRD patients need to be closely followed and often the specific tests patients need can only be performed at specialized centers. In addition, genetic testing can be ordered by various healthcare professionals (depending on the country) but the interpretation of the results and explanation to the patient requires the expertise of a genetic counselor and clinical geneticist.

Young boy, living with LCA, playing with special toys for blind kids

Diagnosis in early childhood allows for rapid referral to educational programs, early intervention, and referrals for mobility and adaptive services. It also gives the best chances for the patient to access potential therapies or to join clinical trials for therapies in development before progression of the disease.

Infants and young children should always be referred to a specialist if there are clinical symptoms associated with their eyes and/or vision. Combined warning signs of inherited retinal disease (IRD) in infant include but are not limited to:

  • Severe visual deficiency: low vision or inability to see
  • Nystagmus: involuntary movement of both eyes
  • Franceschetti’s oculo-digital signs, such as eye-poking, pressing and rubbing
  • Photophobia
  • Slow pupillary reactions, white pupils

Parents and caregivers’ feedback on patient behavior could also help to establish a first clinical diagnosis of IRD. The following could be considered as additional warning signals in an infant:

  • the need to bring toys or things very close to the eyes,
  • frequent tripping or falling,
  • clumsiness,
  • having fear of dark,
  • no social smiling, and/or
  • an inability to fixate.

These should be considered as additional warning symptoms necessitating referral to a specialist.

Online resources are available to find out the closest specialized centers such as Foundation Fighting Blindness and ERN-EYE network. If you cannot find specialized centers, please feel free to contact us at hcp@proqr.com.

Inherited retinal disease patient referral explained

A video by Ramiro Maldonado, MD

The expert

The expert

Ramiro S. Maldonado, MD, is Assistant Professor of Ophthalmology at Shriners UK Advances Eye Care at the University of Kentucky. Dr. Maldonado treats inherited retinal diseases as well as common retinal conditions, such as macular degeneration, diabetic retinopathy and vain occlusion. Dr. Maldonado completed a residency program in ophthalmology at Duke University Medical Center, Durham, N.C. Dr. Maldonado completed a fellowship in ophthalmic genetics and medical retina at the National Eye Institute (NEI), Bethesda, Md. Dr. Maldonado has co-authored many scientific papers through his research in medical retina and inherited retinal diseases.

Headshot of Ramiro Maldonado