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Characteristics and Predictors of Pediatric and Adult Patients with Inherited Retinal Degenerations: Tertiary Care
Melissa A Trudrung1, Matthew T McLaughlin1, Caleb P Ganansky1
1Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Insights
Pediatric patients with inherited retinal degenerations (IRDs) often show refractive and developmental issues, while adults present with progressive vision loss. Understanding these differences in IRD presentation can improve diagnosis and care.
Area of Science:
- Ophthalmology
- Genetics
- Clinical Medicine
Background:
- Inherited retinal degenerations (IRDs) are a group of genetic disorders affecting vision.
- These conditions impact various retinal cells, leading to progressive vision impairment.
Purpose of the Study:
- To compare the clinical and demographic characteristics of pediatric and adult patients with IRDs at their first visit.
- To identify distinct features associated with age at presentation for IRDs.
Main Methods:
- A retrospective chart review was performed on 527 patients diagnosed with IRDs.
- Data included age, diagnosis, ocular and systemic features, and referral information.
Main Results:
- Pediatric IRD patients more commonly had high hyperopia, myopia, astigmatism, syndactyly, and developmental delay.
- Adult IRD patients frequently experienced reduced central/peripheral vision, color deficits, nyctalopia, and cataracts.
- Adults with IRDs had higher rates of cardiac conditions compared to controls.
Conclusions:
- Age at presentation for IRDs is associated with distinct clinical and familial characteristics.
- Pediatric IRDs often manifest with refractive and developmental anomalies, whereas adult IRDs present with progressive visual symptoms.
- Understanding these age-related patterns can enhance early recognition and timely treatment of IRDs.
Introduction:
Inherited retinal degenerations (IRDs) are genetically driven disorders affecting retinal photoreceptors, the retinal pigment epithelium, bipolar cells, and other retinal structures. This study aimed to compare characteristics of pediatric versus adult patients at the time of initial presentation to a tertiary care IRD clinic.
Methods:
A retrospective chart review of 527 patients diagnosed with IRDs was conducted. Data collected included age at presentation, diagnosis, ocular and systemic characteristics, demographics, distance from home to the clinic, and type of referring provider.
Results:
High hyperopia, high myopia, high astigmatism, congenital syndactyly, and developmental delay were more common among pediatric patients. Adult patients more frequently presented with reduced central vision, peripheral vision loss, color vision deficits, nyctalopia, flashes/floaters, cataracts, and family history of cataracts. Compared to a control population, adult IRD patients had higher rates of cardiac conditions, lower prevalence of obesity, and similar rates of diabetes. No significant differences were found in type of referring provider or proximity to the clinic.
Discussion:
Distinct clinical and familial characteristics were associated with age at presentation. Pediatric patients often exhibited refractive and developmental features, while adults presented with progressive vision symptoms. Despite assumptions, geographic proximity did not significantly influence age at presentation, suggesting other barriers to care.
Conclusions:
This study identifies characteristics associated with pediatric and adult presentation in patients with IRDs. Better understanding of these patterns may improve early recognition, clinician education, and timely treatment.
