Literature DB >> 24844395

Frequency of choroidal abnormalities in pediatric patients with neurofibromatosis type 1.

Sertan Goktas, Yasar Sakarya, Muammer Ozcimen, Ismail Alpfidan, Meltem Uzun, Rabia Sakarya, Abdulhekim Yarbag.   

Abstract

PURPOSE: To investigate the frequency of choroidal abnormalities in pediatric patients with neurofibromatosis type 1 detected by infrared reflectance imaging.
METHODS: The fundus of 38 eyes of 19 patients with neurofibromatosis type 1 was examined using infrared reflectance imaging with optical coherence tomography. Forty eyes of 20 age-matched controls were examined similarly. Each patient was evaluated for the presence and the number of choroidal abnormalities. The correlation between the total number of choroidal abnormalities and the patient's age was studied.
RESULTS: A total of 19 patients (11 females, 8 males) were included. The mean age of the neurofibromatosis group was 8.63 ± 3.15 years (range: 4 to 16 years) and that of the control group was 9.05 ± 3.27 years (range: 4 to 15 years). Choroidal nodules appearing as bright patchy nodules were detected in 15 (78.9%) of 19 patients with neurofibromatosis type 1 and 1 (5%) of 20 control subjects. In terms of the frequency of choroidal abnormalities, the difference was significant between the patients with neurofibromatosis type 1 and the controls (P < .001). There was a positive correlation between the number of choroidal abnormalities in both eyes and the patient's age (r = 0.701, P = .001).
CONCLUSIONS: Choroidal abnormalities are frequent in neurofibromatosis type 1. Choroidal abnormalities detected by infrared reflectance imaging with optical coherence tomography can be used to diagnose neurofibromatosis type 1. Copyright 2014, SLACK Incorporated.

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Year:  2014        PMID: 24844395     DOI: 10.3928/01913913-20140513-02

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN: 0191-3913            Impact factor:   1.402


  5 in total

1.  An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1.

Authors:  Fabiana Mallone; Luca Lucchino; Sandra Giustini; Alessandro Lambiase; Antonietta Moramarco
Journal:  Orphanet J Rare Dis       Date:  2022-06-13       Impact factor: 4.303

Review 2.  Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Authors:  Hildegard Kehrer-Sawatzki; David N Cooper
Journal:  Hum Genet       Date:  2021-12-20       Impact factor: 4.132

3.  Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1.

Authors:  Catherine Cassiman; Ingele Casteels; Peter Stalmans; Eric Legius; Julie Jacob
Journal:  Case Rep Ophthalmol       Date:  2017-04-10

4.  Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Authors:  Mariana Flores Pimentel; Anna Heath; Michael J Wan; Rowaida Hussein; Kate E Leahy; Heather MacDonald; Erika Tavares; Cynthia VandenHoven; Katelyn MacNeill; Peter Kannu; Patricia C Parkin; Elise Heon; Arun Reginald; Ajoy Vincent
Journal:  Transl Vis Sci Technol       Date:  2022-02-01       Impact factor: 3.283

5.  Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study.

Authors:  Eleonora Cosmo; Luisa Frizziero; Giacomo Miglionico; Chiara Sofia De Biasi; Marisa Bruno; Eva Trevisson; Ilaria Gabbiato; Giulia Midena; Raffaele Parrozzani
Journal:  Cancers (Basel)       Date:  2022-03-10       Impact factor: 6.639

  5 in total

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