Specific Ocular Findings Leading to the Diagnosis of Early-Onset Neurofibromatosis Type 2

Authors

  • Pittaya Phamonvaechavan Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University,
  • Subongkoch Subhadhirasakul department of ophthalmology, siriraj hospital
  • Rawi Jongpipatchai Department of Ophthalmology, Siriraj hospital
  • supathida jiamsawad department of ophthalmology, Siriraj hospital

Keywords:

Neurofibromatosis, Retinal hamartoma, Pediatric ophthalmology, Optic nerve sheath meningioma, Neurofibromatosis Type 2, Pediatric neurofibromatosis

Abstract

Background: Neurofibromatosis type 2 (NF2) genetic disorder primarily characterized by the central nervous
system tumors, including intracranial schwannomas and meningiomas.Diagnosis is often delayed due to variable
presentations, especially in pediatric patients where ophthalmologic abnormalities may be the earliest sign.

Case Presentation: A 4-year-old boy referred for ocular evaluation due to multiple café-au-lait macules.
Initial examination revealed reduced visual acuity, bilateral iris mammillation, and left retinal hamartoma, raising
suspicion of NF2. Despite glasses being prescribed, the patient was lost to follow-up and returned at age 8 with left eye visual deterioration. Subsequent examination identified a flame-like epiretinal membrane (ERM) in the right eye and
a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) in the left eye. Magnetic Resonance
Imaging (MRI) confirmed multiple cranial nerve schwannomas and a left optic nerve sheath meningioma (ONSM), confirming the NF2 diagnosis at age 10.

Discussion: Pediatric NF2 can present with distinctive ocular findings: cortical cataracts, ERMs, CHRRPE,
and ONSMs, which may precede neurological symptoms. Early recognition of NF2 ocular signs is crucial for timely
diagnosis and management, potentially reducing morbidity.

Conclusion: This case highlights importance of thorough ophthalmologic evaluation in NF2 children. Early
diagnosis can guide appropriate multidisciplinary management, improving prognosis in pediatric NF2 patients.

Author Biographies

Pittaya Phamonvaechavan, Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University,

Dr. Pittaya Phamonvaechavan is a distinguished ophthalmologist with a specialization in pediatric ophthalmology and strabismus. He earned his M.D. from Siriraj Hospital, Mahidol University, Bangkok, in 1996 and completed his board certification in Ophthalmology in 2002. His advanced training includes certificates in pediatric ophthalmology and strabismus from Siriraj Hospital (2005), Bascom Palmer Eye Institute, University of Miami (2008), and Wilmer Eye Institute, The Johns Hopkins University (2009).

Dr. Phamonvaechavan has been a faculty member in the Department of Ophthalmology at Siriraj Hospital since 2005. His academic responsibilities include instructing medical students and residents, with a focus on pediatric and strabismic cases. He is also an integral member of the “Retinopathy of Prematurity care” team and serves as a consultant for ophthalmic emergencies.

His research contributions are significant, with numerous publications in leading ophthalmology journals, focusing on pediatric ophthalmology, strabismus surgery, and ocular pathology. Dr. Phamonvaechavan is affiliated with several professional organizations, including the Pediatric Ophthalmology and Strabismus Society and The Royal College of Ophthalmologists of Thailand

Subongkoch Subhadhirasakul, department of ophthalmology, siriraj hospital

Dr. Subongkoch Subhadhirasakul is a distinguished ophthalmologist at Vachira Phuket Hospital, Phuket, with a specialized focus on pediatric ophthalmology. She completed her M.D. with First Class Honors and subsequently earned a Diploma of Thai Board of Ophthalmology, both from the Faculty of Medicine, Siriraj Hospital, Mahidol University. Furthering her expertise, she completed advanced training in pediatric ophthalmology at Siriraj Hospital.

Dr. Subhadhirasakul is renowned for her work in pediatric ophthalmology, where she provides specialized eye care and surgical interventions for children. Her dedication to this field is evident through her involvement in public health initiatives, such as vision screening programs for school-aged children in Phuket, which focus on early detection and treatment of visual impairments.

Her academic contributions include research on bleb-related infections in glaucoma patients, published in the Siriraj Medical Journal. In her current role, Dr. Subhadhirasakul not only leads clinical services but also plays a pivotal role in the education of medical students and residents, underscoring her commitment to advancing pediatric ophthalmology.

Proficient in both Thai and English, Dr. Subhadhirasakul is a key figure in the development of pediatric ophthalmology in Thailand, contributing significantly to both clinical practice and medical education.

Rawi Jongpipatchai, Department of Ophthalmology, Siriraj hospital

Dr. Rawi Jongpipatchai is an accomplished ophthalmologist with a distinguished academic background and significant research experience. Born on August 18, 1993, Dr. Rawi completed her medical degree with First Class Honors from the Faculty of Medicine at Siriraj Hospital, Mahidol University.

Dr. Rawi holds the Diploma of the Thai Board of Ophthalmology, which she earned from the Faculty of Medicine at Siriraj Hospital, Mahidol University. This certification underscores her specialized expertise in ophthalmology and her dedication to providing the standard of eye care.

Dr. Rawi's professional career commenced as a General Practitioner at Nongkhai Hospital, where she served from June 2018 to May 2019. Following this, she transitioned into a research fellowship at the Department of Ophthalmology, Faculty of Medicine, Siriraj Hospital, where she has been contributing to advancing the field of ophthalmology since June 2019.

In addition to her clinical and research roles, Dr. Rawi has undergone specialized training, including courses in medical research, the application of the SPSS program, and Good Clinical Practice, demonstrating her commitment to excellence in both patient care and scientific inquiry.

supathida jiamsawad, department of ophthalmology, Siriraj hospital

Supathida Jiamsawad is a dedicated medical professional with specialized expertise in ophthalmology, clinical research, and public health advocacy. She completed her medical degree at the Chulabhorn International College of Medicine, Thammasat University, where she conducted research on gastrointestinal lymphoma and microbiome variability, collaborating with leading institutions such as the Massachusetts Institute of Technology.

Supathida’s focus on ophthalmology is demonstrated through her participation in clinical electives at prominent hospitals in Thailand, as well as her active involvement in major ophthalmology conferences, including the annual meetings of the Royal College of Ophthalmologists of Thailand (RCOPT) and specialty courses at Thammasat University. Her work in ophthalmology is further reinforced by her role as a research assistant at the Department of Ophthalmology, Siriraj Hospital, Mahidol University, where she contributed to advancing the field through rigorous academic inquiry.

In addition to her clinical and research work, Supathida has held significant leadership roles within the International Federation of Medical Students’ Association-Thailand (IFMSA-Thailand). She led initiatives that addressed global public health issues and represented Thailand at international forums, advocating for sustainable healthcare practices and social justice.

Supathida’s commitment to social responsibility is evident in her leadership of healthcare initiatives for marginalized populations and her contributions as a regular blood and organ donor. She is fluent in Thai, English, and Mandarin, with basic proficiency in German, and continues to expand her expertise through advanced courses in leadership and ophthalmology.

References

Wishart JH. Case of Tumours in the Skull, Dura Mater, and Brain. Edinb Med Surg J. Jul 1 1822;18(72):393-397.

Antinheimo J, Sankila R, Carpen O, et al. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology. Jan 11 2000;54(1):71-6. doi:10.1212/wnl.54.1.71

Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. Feb 2010;152A(2):327-32. doi:10.1002/ajmg.a.33139

Evans DG, Moran A, King A, et al. Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol. Jan 2005;26(1):93-7. doi:10.1097/00129492-200501000-00016

Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. Jun 19 2009;4:16. doi:10.1186/1750-1172-4-16

Evans DG, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. Aug 1992;84(304):603-18.

Halliday D, Emmanouil B, Pretorius P, et al. Genetic Severity Score predicts clinical phenotype in NF2. J Med Genet. Oct 2017;54(10):657-664. doi:10.1136/jmedgenet-2017-104519

Coy S, Rashid R, Stemmer-Rachamimov A, et al. Correction to: An update on the CNS manifestations of neurofibromatosis type 2. Acta Neuropathol. Apr 2020;139(4):667. doi:10.1007/s00401-019-02044-6

Coy S, Rashid R, Stemmer-Rachamimov A, et al. An update on the CNS manifestations of neurofibromatosis type 2. Acta Neuropathol. Apr 2020;139(4):643-665. doi:10.1007/s00401-019-02029-5

Evans DG, King AT, Bowers NL, et al. Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing. Genet Med. Jul 2019;21(7):1525-1533. doi:10.1038/s41436-018-0384-y

Gugel I, Grimm F, Teuber C, et al. Presenting symptoms in children with neurofibromatosis type 2. Childs Nerv Syst. Oct 2020;36(10):2463-2470. doi:10.1007/s00381-020-04729-w

Anand G, Vasallo G, Spanou M, et al. Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population. Arch Dis Child. May 2018;103(5):463-469. doi:10.1136/archdischild-2017-313154

Matsuo M, Ohno K, Ohtsuka F. Characterization of early onset neurofibromatosis type 2. Brain Dev. Feb 2014;36(2):148-52. doi:10.1016/j.braindev.2013.01.007

Ruggieri M, Iannetti P, Polizzi A, et al. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics. Feb 2005;36(1):21-34. doi:10.1055/s-2005-837581

McLaughlin ME, Pepin SM, Maccollin M, et al. Ocular pathologic findings of neurofibromatosis type 2. Arch Ophthalmol. Mar 2007;125(3):389-94. doi:10.1001/archopht.125.3.389

Chan CC, Koch CA, Kaiser-Kupfer MI, et al. Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2. J Pathol. Sep 2002;198(1):14-20. doi:10.1002/path.1174

Kang HM, Koh HJ, Chung EJ. Spectral-domain optical coherence tomography of combined hamartoma of the retina and retinal pigment epithelium in neurofibromatosis. Korean J Ophthalmol. Feb 2013;27(1):68-71. doi:10.3341/kjo.2013.27.1.68

Waisberg V, Rodrigues LO, Nehemy MB, et al. Spectral-Domain Optical Coherence Tomography Findings in Neurofibromatosis Type 2. Invest Ophthalmol Vis Sci. Jul 1 2016;57(9):OCT262-7. doi:10.1167/iovs.15-18919

Sisk RA, Berrocal AM, Schefler AC, et al. Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2. Retina. Apr 2010;30(4 Suppl):S51-8. doi:10.1097/IAE.0b013e3181dc58bf

Rishi P, Hirawat RS, Verma A. Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2. Indian J Ophthalmol. Nov 2016;64(11):850-852. doi:10.4103/0301-4738.195609

Martin K, Rossi V, Ferrucci S, et al. Retinal astrocytic hamartoma. Optometry. May 2010;81(5):221-33. doi:10.1016/j.optm.2009.12.009

Chin EK, Almeida DR, Boldt HC. Combined Hamartoma of the Retina and Retinal Pigment Epithelium Leading to the Diagnosis of Neurofibromatosis Type 2. JAMA Ophthalmol. Sep 2015;133(9):e151289. doi:10.1001/jamaophthalmol.2015.1289

Starosta DA, Lorenz B. [Retinal Astrocytic Hamartoma in Neurofibromatosis Type 2 - Metaanalysis and a Case Report]. Klin Monbl Augenheilkd. Mar 2018;235(3):290-300. Retinale astrozytäre Hamartome bei Neurofibromatose Typ 2 – Metaanalyse und Fallbericht. doi:10.1055/a-0583-0291

Levin LA, Jakobiec FA. Optic nerve tumors of childhood: a decision-analytical approach to their diagnosis. Int Ophthalmol Clin. Winter 1992;32(1):223-40. doi:10.1097/00004397-199203210-00017

Bosch MM, Wichmann WW, Boltshauser E, Landau K. Optic nerve sheath meningiomas in patients with neurofibromatosis type 2. Arch Ophthalmol. 2006;124(3):379-385. doi:10.1001/archopht.124.3.379.

Feucht M, Griffiths B, Niemuller I, et al. Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders. Acta Ophthalmol. Dec 2008;86(8):882-6. doi:10.1111/j.1600-0420.2007.01088.x

Evans DG, Birch JM, Ramsden RT. Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child. Dec 1999;81(6):496-9. doi:10.1136/adc.81.6.496

Ardern-Holmes S, Fisher G, North K. Neurofibromatosis Type 2:Presentation, Major Complications, and Management, With a Focus on the Pediatric Age Group. Journal of Child Neurology. 2017;32(1):9-22. doi:10.1177/0883073816666736

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2025-12-26 — Updated on 2025-12-26

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Vol. 39 No. 2 (2025): ่July-December

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