Ocular Surface Disease In Riley–Day Syndrome: A Paediatric Case Report Of Long-Term Management Challenges

To describe and photographically document a severe paediatric case of ocular surface disease in Riley–Day syndrome (familial dysautonomia), a rare autosomal recessive disorder caused by ELP1 mutations affecting the autonomic and sensory nervous systems and characterized by impaired pain perception. This report highlights the natural ocular history of alacrima and corneal hypoesthesia and emphasizes the complexity of long-term management and the importance of corneal and amniotic membrane transplantation, in preserving functional vision despite progressive corneal damage.

Department of Ophthalmology, Unidade Local de Saúde de São João, a tertiary ophthalmic referral centre in Porto, Portugal.

A male paediatric patient, born prematurely, was first evaluated at 8 months of age for a red eye. A paracentral corneal ulcer and absence of the threat reflex were observed, and he began regular ophthalmologic follow-up. Over 16 years, he developed severe ocular surface disease with recurrent corneal epithelial defects, neurotrophic ulcers, stromal thinning, leucomas, and episodes of descemetocele. The diagnosis of Riley–Day syndrome was genetically confirmed at 4 years of age. Despite intensive topical therapy (lubricants, antibiotics, and corticosteroids), he required multiple surgical interventions, including bilateral penetrating keratoplasty in early childhood, lateral and medial tarsorrhaphy, and amniotic membrane transplantation. Long-term stabilization of the ocular surface was achieved through close monitoring, aggressive lubrication, and timely surgical management. At last follow-up this year, the patient maintained functional vision in one eye (2/10 decimal), enabling daily activities, regular schooling, and independence.

Riley–Day syndrome can cause early-onset recurrent corneal erosions and progressive neurotrophic keratopathy, leading to severe ocular complications in childhood, including blindness. This case underscores the critical need for proactive ophthalmologic surveillance and early recognition of neurotrophic disease. Although no curative treatment exists, individualized long-term management and timely surgical intervention can stabilize the ocular surface and preserve meaningful functional vision, as demonstrated in this case, thereby improving quality of life in patients with this rare and challenging condition.