Purpose: The purpose of this case report is to explore the treatment of ocular and visual complications secondary to familial dysautonomia (Riley–Day syndrome) on an 8 month-old baby. Treatments for corneal scarring,ocular protection, and amblyopia were achieved by fitting a scleral lens with a unique piggyback combination involving a cosmetic soft contact lens.
Method: The patient was seen in February 2008, on referral from a corneal specialist, for a scleral lens fitting. This case was comanaged from Université de Montréal with the help of the Boston Foundation for Sight.Examination revealed a right cornea with opacities. We planned to use scleral lenses to treat this eye and to protect the other one. Although the patient's ocular condition did improve, some concerns arose about potential impact on her visual development. Our treatment for amblyopia involved the use of atropine in both eyes and penalization of the good eye with a cosmetic opaque contact lens that we fitted onto a piggyback system over the scleral lens. The rationale behind this approach is explained in this article.
Result: After the contact lens was fitted and after penalization and atropinization,the baby's visual condition improved. Time will tell to what degree this treatment is effective.
Conclusion: Familial dysautonomia is a challenging condition for the eye because of the presence of alacrymia and lack of corneal sensitivity. Scleral contact lenses and cosmetic contact lenses offer a unique way of addressing many issues, such as corneal healing and amblyopia, raised in this case report. These devices may be considered for any other case that requires corneal tissue healing and visual development.