June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
In-vivo Detection of Choroidal Abnormalities Related to Neurofibromatosis Type 1: Feasibility and Comparison with Standard NIH Diagnostic Criteria in Pediatric Patients.
Author Affiliations & Notes
  • Raffaele Parrozzani
    Ocular Oncology and Toxicology Research Unit, G.B. Bietti Foundation, IRCCS, Roma, Italy
  • Luisa Frizziero
    Department of Ophthalmology, University of Padova, Padova, Italy
  • giacomo miglionico
    Department of Ophthalmology, University of Padova, Padova, Italy
  • Pierdavide Perrini
    Department of Ophthalmology, University of Padova, Padova, Italy
  • Olympia Kotsafti
    Ocular Oncology and Toxicology Research Unit, G.B. Bietti Foundation, IRCCS, Roma, Italy
  • Enrica Convento
    Department of Ophthalmology, University of Padova, Padova, Italy
  • Edoardo Midena
    Ocular Oncology and Toxicology Research Unit, G.B. Bietti Foundation, IRCCS, Roma, Italy
    Department of Ophthalmology, University of Padova, Padova, Italy
  • Footnotes
    Commercial Relationships Raffaele Parrozzani, None; Luisa Frizziero, None; giacomo miglionico, None; Pierdavide Perrini, None; Olympia Kotsafti, None; Enrica Convento, None; Edoardo Midena, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 5934. doi:
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      Raffaele Parrozzani, Luisa Frizziero, giacomo miglionico, Pierdavide Perrini, Olympia Kotsafti, Enrica Convento, Edoardo Midena; In-vivo Detection of Choroidal Abnormalities Related to Neurofibromatosis Type 1: Feasibility and Comparison with Standard NIH Diagnostic Criteria in Pediatric Patients.. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):5934.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract
 
Purpose
 

To evaluate the feasibility of near infrared (NIR) imaging acquisition in a large sample of consecutive pediatric patients with neurofibromatosis type 1 (NF1), to evaluate the diagnostic performance of NF1 related choroidal abnormalities as a diagnostic criterion of the disease and to compare this criterion with those established by original Institutes of Health Consensus Development Conference.

 
Methods
 

One-hundred and forty consecutive pediatric patients (0-16 years old) affected by NF1 (at least two diagnostic criteria), fifty-nine suspected (a single diagnostic criterion) and forty-two healthy subjects (no diagnostic criterion) were consecutively included. Each patient underwent genetic, dermatologic and ophthalmologic examination to evaluate the presence/absence of each NIH diagnostic criterion. The presence of NF1 related choroidal abnormalities was investigated using NIR confocal ophthalmoscopy (Spectralis®, Heidelberg Engineering, Heidelberg, Germany).

 
Results
 

NF1-related choroidal abnormalities where detected in seventy-two affected (60.5%), one suspected (2.4%) and in no-one healthy subject, reaching a feasibility rate of 85%. Sensitivity, specificity, positive and negative predictive values were 0.60, 0.97, 0.98 and 0.46, respectively. Compared whit standard NIH criteria, the presence of NF1-related choroidal abnormalities is the third parameter (after café-au-lait macules and freckling) for sensitivity, positive and negative predictive value, and the fourth for specificity. The introduction of this sign has anticipated the diagnosis in a single case (0.5%). The subject who moved from suspected to affected group by using this sign was a 2-year-old boy that eventually developed other NIH diagnostic criteria.

 
Conclusions
 

Although the sign NF1-related choroidal abnormalities, compared with standard NIH criteria, is third in order of sensitivity, positive and negative predictive value, and fourth for specificity. It should be therefore considered a new clinical marker of the disease, but does not appear to add diagnostic performance to standard NIH diagnostic criteria.  

 
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