Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study
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Published on: May 17, 2024
Eleonora Cosmo1, Luisa Frizziero1, Giacomo Miglionico1
1Department of Ophthalmology, University of Padova, 35128 Padova, Italy.
Insights
Choroidal abnormalities (CAs) in children with neurofibromatosis type 1 (NF1) increase in number and size over time. This progression is independent of eye growth and occurs more rapidly in younger patients.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder associated with various ocular manifestations.
- Choroidal abnormalities (CAs) are observed in NF1 patients, but their long-term progression is not well-characterized.
Purpose of the Study:
- To evaluate the natural history and long-term progression of choroidal abnormalities (CAs) in pediatric patients with neurofibromatosis type 1 (NF1).
- To quantify changes in the number and dimensions of CAs over time in this population.
Main Methods:
- A cohort of pediatric NF1 patients (<16 years) with CAs and a minimum 3-year follow-up was recruited.
- Near-infrared (NIR) imaging was used to identify and quantify CAs.
- CA size (area and perimeter) was normalized to optic disc dimensions to account for eye growth.
Main Results:
- Significant increases in CA number, area, and perimeter were observed during follow-up (p < 0.0001).
- Younger age at baseline correlated inversely with the increase in CA number over time (p = 0.0068).
- No significant correlation was found between age and the progression of CA dimensions.
Conclusions:
- Choroidal abnormalities in pediatric NF1 patients progress in both number and size over time.
- This progression is independent of normal eye growth.
- The increase in CA number is more pronounced in younger children, while dimensional growth is a slow, consistent process throughout childhood.
Abstract:
The purpose of this study was to assess the long-term natural history of choroidal abnormalities (CAs) in a large pediatric neurofibromatosis type 1 (NF1) population, quantifying their progression in number and dimensions. Pediatric patients (<16 years old) affected by NF1 with a minimum follow-up of 3 years with at least one CA in one eye were consecutively recruited. Near-infrared (NIR) imaging was performed to identify CAs, which were quantified in number and size. The CAs area and perimeter were normalized for the optic disc dimensions to avoid possible bias related to the growing process of the eye. Ninety-nine eyes of 53 patients were evaluated. The CAs number, area and perimeter significantly increased during follow-up (p < 0.0001 for each parameter). The patient age at baseline was inversely correlated with the CAs number over time (coefficient = −0.1313, p = 0.0068), while no correlation was found between the patient age and CAs progression in size. In conclusion, we provide evidence that, in NF1 pediatric patients, CAs change over time, increasing both in number and dimensions, independently from the physiological growth of the eye. While the increase of the CAs number occurs particularly at an earlier age, the increase in the CAs dimensions is a slow process that remains constant during childhood.
