Ocular findings in patients with histiocytosis and association with clinical and molecular features Journal Article
| Authors: | Francis, J. H.; Reiner, A. S.; Canestraro, J.; Rampal, R. K.; Abramson, D. H.; Diamond, E. L. |
| Article Title: | Ocular findings in patients with histiocytosis and association with clinical and molecular features |
| Abstract: | Background/aims Ocular manifestations of histiocytosis and their genetic underpinnings are poorly characterised. This study characterises ocular sites of histiocytosis, notate genetic alterations and correlates to histiocytosis clinical features including subtype and sites of disease. Methods Prospective registry-based study of predominantly adult histiocytosis patients at a single-institution tertiary referral centre. 180 eyes of 90 patients (46 males, 44 females) with histiocytosis (Erdheim-Chester disease 34, Rosai-Dorfman 20, xanthogranuloma 7, mixed histiocytosis 13, Langerhans cell histiocytosis (LCH) 15, ALK-positive histiocytosis 1). Ocular findings were categorised by the structure involved. Histiocytosis subtype, sites of disease and genetic status were correlated to ocular findings. Results Ocular disease was present in more than half the histiocytosis patient cohort and occurred with other disease sites. Ocular findings were statistically significantly different across histiocytic subtypes with LCH subtypes having the lowest proportion of ocular findings (7%) and all other subtypes having rates of ocular findings which were five times that of patients with LCH (p=0.0009). Of patients with ocular findings, 41% of patients reported ocular symptoms and were significantly more in the group with ocular disease present versus those patients without ocular involvement. The presence of ocular findings was not statistically different by BRAFV600E, MAP2K1 or RAS isoform mutational status. Conclusions Ocular disease is a common feature of histiocytosis with significant visual symptomatology and occurrence in tandem with multisystem sites. Ocular findings vary by histiocytic subtype. The mutational profile of the cohort reflects known mutations in this clinical population, with no specific driver mutation associated with ocular disease. |
| Keywords: | genetics; inflammation; pathology; diagnosis; choroid; mutations; langerhans cell histiocytosis; orbit; vemurafenib; erdheim-chester disease |
| Journal Title: | British Journal of Ophthalmology |
| Volume: | 108 |
| Issue: | 11 |
| ISSN: | 0007-1161 |
| Publisher: | BMJ Publishing Group Ltd. |
| Date Published: | 2024-11-01 |
| Start Page: | 1548 |
| End Page: | 1554 |
| Language: | English |
| ACCESSION: | WOS:001231728400001 |
| DOI: | 10.1136/bjo-2023-324877 |
| PROVIDER: | wos |
| PUBMED: | 38789131 |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PDF. Corresponding MSK author is Jasmine H. Francis -- Source: Wos |
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