Abstract: PUB471
Ophthalmologic Symptoms and Practice Patterns in Children and Young Adults in the NAPRTCS Cystinosis Registry
Session Information
Category: Pediatric Nephrology
- 1900 Pediatric Nephrology
Authors
- Boynton, Sara Ashley, Johns Hopkins University, Baltimore, Maryland, United States
- Warady, Bradley A., Children's Mercy Kansas City, Kansas City, Missouri, United States
- Greenbaum, Larry A., Emory University, Atlanta, Georgia, United States
- Grimm, Paul C., Stanford University, Stanford, California, United States
- Neu, Alicia, Johns Hopkins University, Baltimore, Maryland, United States
- Smith, Jodi M., Seattle Children's Hospital, Seattle, Washington, United States
Background
Launched in 2018, the NAPRTCS Cystinosis Registry is a prospective cohort study of children & young adults with cystinosis whose objective is to describe the clinical features of cystinosis and practice patterns of providers. The NAPRTCS Cystinosis Registry includes detailed information on ophthalmologic clinical outcomes and related care practices.
Methods
Children and young adults <25 years of age at a participating NAPRTCS center are eligible for inclusion in the NAPRTCS Cystinosis Registry. Data are collected from time of diagnosis, at time of registry entry, and every 6 months thereafter.
Results
The NAPRTCS Cystinosis Registry has collected clinical information on children & young adults with cystinosis since 2018 and includes information on 104 patients from 30 centers who were diagnosed from 12/1999 to 8/2023. Participants are primarily male (52.9%), majority White (77.9%), and over a quarter (28.8%) live ≥ 50 miles from the treating center. Median age is 16.5 months at diagnosis and 9 years at registry entry.
At time of diagnosis corneal deposits were reported in 32.3% of participants and cysteamine eye drops were prescribed to 34.4%. At time of registry entry, a visit with an ophthalmologist was reported for 28.4% of participants and an ophthalmologic exam for 26.3%, 26.6% reported photophobia and 24.3% wore glasses. Of those participants with an exam, 72% had corneal crystals and 12% retinal changes. Throughout the follow up period, the majority of participants of were on cysteamine eye drops (73.7% at registry entry; 82.4% at 12 months; 84.2% at 24 months).
Conclusion
The NAPRTCS Cystinosis Registry provides a unique opportunity to gain insight into the pediatric cystinosis population and to further our understanding of the complex care needs of pediatric cystinosis patients. Children and young adults with cystinosis have significant ophthalmological clinical features necessitating treatment with cysteamine eye drops and close follow up.