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Ciliary body cysts in neurofibromatosis: A new coexistence?

  • Neurophthalmology
  • Published:
Graefe's Archive for Clinical and Experimental Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

Neurofibromatosis 1 (NF1) is an autosomal dominant, multisystem disorder that also effects the eye. Herein, we aimed to investigate the posterior iris surface and ciliary body morphology of NF1 patients by ultrasonic biomicroscopy (UB).

Materials & Methods

Nine consecutive unrelated subjects with NF1, and as a control group 25 healthy subjects, were included in the study. All patients underwent ophthalmic examination including visual acuity testing, slit-lamp biomicroscopy, tonometry, gonioscopy (Schaffer classification), and dilated ophthalmoscopy, UB.

Results

Mean age was 35.1 ± 16.2 (range, 11–57) and 34.5 ± 15.6 (range, 9–60) for NF1 and control groups respectively (p > 0.05). Lisch nodules were present in 16 of 18 eyes (88.8%) in NF1 group. Fundoscopic examination of the control group and 15 eyes of NF1 (83.3%) patients was normal, whereas hypoplastic and tilted optic nerve were present in three eyes, and temporally-located bone-spicule-like lesions was present in one eye of the NF1 group. UB revealed ciliary body cyst in 77.7% (14/18) of the eyes among NF1 group, and 8% (4/50) among control group (p < 0.05). The mean size of the cysts were 520 ± 191 μ (range, 220–860 μ) and 495 ± 231 μ (range, 300–830 μ) at NF1 and control groups, respectively. Gonioscopic evaluation revealed that 55% of the NF1 patients have an unoccludable anterior chamber angle (Grade 3 or 4), 45% occludable angle (Grade 1 or 2), and 78% irregular pigment patches. However, occludable angle rate was just 4% in the control group, and none of the patients had irregular pigment patches.

Conclusion

The coexistence of ciliary body cysts and NF1, and the effect of these cysts in the eye should be enlightened with further studies.

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References

  1. Jett K, Friedman JM (2010) Clinical and genetic aspects of neurofibromatosis 1. Genet Med 12:1–11

    Article  PubMed  Google Scholar 

  2. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL (2009) Neurofibromatosis type 1 revisited. Pediatrics 123:124–133

    Article  PubMed  Google Scholar 

  3. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet 44:81–88

    Article  PubMed  CAS  Google Scholar 

  4. NIH Consensus Development Conference (1988) Neurofibromatosis. Conference statement. Arch Neurol 45:575–578

    Article  Google Scholar 

  5. Huson S, Jones D, Beck L (1987) Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol 71:235–238

    Article  PubMed  CAS  Google Scholar 

  6. Kreusel KM (2005) Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implications. Fam Cancer 4:43–47

    Article  PubMed  Google Scholar 

  7. Grant WM, Walton DS (1968) Distinctive gonioscopic findings in glaucoma due to neurofibromatosis. Arch Ophthalmol 79:127–134

    Article  PubMed  CAS  Google Scholar 

  8. Morales J, Chaudry IA, Bosley TM (2009) Glaucoma and globe enlargement associated with neurofibromatosis type 1. Ophthalmol 116:1725–1730

    Article  Google Scholar 

  9. Jacquemin C, Bosley TM, Svedberg H (2003) Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol 24:1678–1682

    PubMed  Google Scholar 

  10. Augsburger JJ, Affel LL, Benarosh DA (1996) Ultrasound biomicroscopy of cystic lesions of the iris and ciliary body. Trans Am Ophthalmol Soc 94:259–271

    PubMed  CAS  Google Scholar 

  11. Tonsgard JH (2006) Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol 13:2–7

    Article  PubMed  Google Scholar 

  12. Boyd KP, Korf BR, Theos A (2009) Neurofibromatosis type 1. J Am Acad Dermatol 61:1–14

    Article  PubMed  Google Scholar 

  13. Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM (2008) Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol 10:593–598

    Article  PubMed  Google Scholar 

  14. Tucker T, Friedman JM, Friedrich RE, Wenzel R, Fünsterer C, Mautner VF (2009) Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. J Med Genet 46:81–85

    Article  PubMed  CAS  Google Scholar 

  15. Sippel KC (2001) Ocular findings in neurofibromatosis type 1. Int Ophthalmol Clin 41:25–40

    Article  PubMed  CAS  Google Scholar 

  16. Listernick R, Charrow J, Greenwald MJ, Mets M (1994) Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr 125:63–66

    Article  PubMed  CAS  Google Scholar 

  17. Quaranta L, Semeraro F, Turano R, Gandolfo E (2004) Gonioscopic findings in patients with type 1 neurofibromatosis (Von Recklinghausen disease). J Glaucoma 13:90–95

    Article  PubMed  Google Scholar 

  18. Kunimatsu S, Araie M, Ohara K, Hamada C (1999) Ultrasound biomicroscopy of ciliary body cysts. Am J Ophthalmol 127:48–55

    Article  PubMed  CAS  Google Scholar 

  19. Cronemberger S, Ferreira DM, Diniz Filho A, Mérula RV, Calixto N (2006) Iridociliary cysts on ultrasound biomicroscopic examinations. Arq Bras Oftalmol 69:471–475

    Article  PubMed  Google Scholar 

  20. Tanihara H, Akita J, Honjo M, Honda Y (1997) Angle closure caused by multiple, bilateral iridociliary cysts. Acta Ophthalmol Scand 75:216–217

    Article  PubMed  CAS  Google Scholar 

  21. Katsimpris JM, Petropoulos IK, Sunaric-Mégevand G (2007) Ultrasound biomicroscopy evaluation of angle closure in a patient with multiple and bilateral iridociliary cysts. Klin Monatsbl Augenheilkd 224:324–327

    Article  PubMed  CAS  Google Scholar 

  22. Croswston JG, Medeiros FA, Mosaed S, Weinreb RN (2005) Argon laser iridoplasty in the treatment of plateau-like iris configuration as result of numerous ciliary body cysts. Am J Ophthalmol 139:381–383

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Ophthalmology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey

    Sinan Emre & M. Oğuz Ulusoy

  2. Department of Ophthalmology, Faculty of Medicine, Ege University, Izmir, Turkey

    Melis Palamar

  3. Department of Dermatology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey

    Gülsüm Gençoğlan

  4. Celal Bayar Üniversitesi Tıp Fakültesi, Göz Hastalıkları AD, 45010, Uncubozkoy Manisa, Turkey

    Sinan Emre

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  1. Sinan Emre
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  2. Melis Palamar
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Correspondence to Sinan Emre.

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Emre, S., Palamar, M., Ulusoy, M.O. et al. Ciliary body cysts in neurofibromatosis: A new coexistence?. Graefes Arch Clin Exp Ophthalmol 250, 857–861 (2012). https://doi.org/10.1007/s00417-011-1830-6

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  • DOI: https://doi.org/10.1007/s00417-011-1830-6

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