CHARACTERIZATION AND ANALYSIS OF THE IMPLICATIONS OF CHOROIDAL ABNORMALITIES AND OTHER OCULAR MANIFESTATIONS IN PATIENTS WITH NEUROFIBROMATOSIS TYPE I (NF1).

In patients with Neurofibromatosis type 1 (NF1), choroidal abnormalities (CA) were previously not easily identified because conventional ophthalmoscopy and fluorescein angiography were more routinely used than OCT-EDI or NIR studies. NIR and OCT studies allowed detection of the abnormalities and have been of particular interest as a screening tool in ophthalmology (3).
In the context of NF1, it has been described that ocular manifestations such as CAs and Lisch nodules (LN) may vary with age (9,10). NLs and ACs have been found to correlate positively and strongly with disease (r=0.783, P=0.0267). The number of ACs has been positively and weakly correlated with the age of the patients (Spearman r= 0.23, P<0.04), which revalidates findings that showed that the probability of the presence of NL is lower than that of ACs at all ages (odds ratio=0.37; 95 % CI, 0.20-0.69; P=0.00173). Finally, an association was found between the number of optic gliomas on MRI with the number and quantity of focal CA.
The variable nature of the clinical heterogeneity of NF1 calls for studies to understand and parameterize the presence of certain clinical findings. CAs have only recently been included within the diagnostic criteria for NF1, and their implications for choroidal architecture and physiology are not adequately known. Additionally, they have not been studied in the Colombian population, healthy or with NF1.
On the other hand, there is a need for further studies that can identify the possible presence of genotype-phenotype correlations between heterozygous variants of the NF1 gene and ocular findings (NL and AC), likewise it is necessary to evaluate the sensitivity and specificity of AC compared to classically described NL. Additionally, the study will provide evidence on the importance of combining ophthalmologic examinations with imaging to increase the scope of diagnosis in NF1.
The present work seeks to identify the characteristics and implications of choroidal abnormalities and other ocular anomalies present in patients with Neurofibromatosis type 1 (NF1) in a Colombian population sample.