We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Reply to L. Lucchino et al. on commentary on "Histologic correlates of "Choroidal Abnormalities" in Neurofibromatosis type 1".
- Authors
Stemmer-Rachamimov, Anat O.; Kozanno, Liana; Plotkin, Scott R.; Jordan, Justin T.; Rizzo 3rd, Joseph F.
- Abstract
This document is a reply to a comment made by Dr. Lucchino et al. regarding ocular findings in patients with Neurofibromatosis type 1 (NF1). The comment raises questions about whether Lisch nodules and choroidal abnormalities (CA) should be counted as separate diagnostic criteria, as they may represent lesions arising from different cell lineages. The reply also discusses the distinction between constitutional NF1 and mosaic NF1, and the association of retinal vascular abnormalities with CA. The authors agree with the points raised by Dr. Lucchino et al. and thank them for their insights.
- Subjects
SOMATIC mutation; ONLINE comments; NEUROFIBROMATOSIS 1; OPTIC nerve; OCULAR manifestations of general diseases
- Publication
Acta Neuropathologica, 2024, Vol 148, Issue 1, p1
- ISSN
0001-6322
- Publication type
Letter
- DOI
10.1007/s00401-024-02782-2