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Neovascular glaucoma in a pediatric patient with neurofibromatosis type 1: a case report
Sha Liu1, Li Ran1, Dongmei Qi1
1Department of ophthalmology, the first hospital affiliated to Army Medical University (Southwest Hospital), Chongqing, 400038, China.
Insights
This case study highlights a rare instance of neurofibromatosis type 1 (NF1) in a child presenting with neovascular glaucoma and retinal vasoproliferative tumors (RVPT). Early diagnosis through genetic testing and family history is crucial for effective management.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder with varied clinical manifestations.
- Neovascular glaucoma (NVG) is a severe form of glaucoma characterized by abnormal blood vessel growth.
Observation:
- A 7-year-old boy with NF1 presented with acute vision loss, periocular pain, and headache.
- Ophthalmic examination revealed retinal vasoproliferative tumors (RVPT) in the affected eye and characteristic café-au-lait spots.
- Standard glaucoma treatments were ineffective, prompting further investigation.
Findings:
- Genetic testing confirmed NF1, and the patient was diagnosed with neovascular glaucoma secondary to RVPT.
- Treatment involved intravitreal ranibizumab, cryotherapy, and photocoagulation, leading to RVPT scarring and normalized intraocular pressure.
- The patient's visual loss and symptoms improved post-intervention.
Implications:
- This case underscores the importance of considering NF1 in pediatric patients with neovascular glaucoma and RVPT.
- Thorough systemic and family history evaluation is essential for early NF1 diagnosis.
- Prompt molecular testing for NF1 can prevent misdiagnosis and ensure appropriate management of associated ocular complications.
Background:
To report a case of a young patient with neurofibromatosis type 1 (NF1).
Methods:
Here we review the treatment administered to a 7-year-old NF1 patient with neovascular glaucoma as the primary diagnosis.
Case Presentation:
A 7-year-old boy developed visual loss in the right eye associated with periocular pain and ipsilateral headache that had persisted for 1 week. The patient's condition did not improve after treatment with topical or systemic glaucoma medications. Fundus examination of the right eye showed superotemporal retinal vasoproliferative tumors (RVPT). Near-infrared reflectance scans of the left eye's fundus revealed bright patchy regions, scattered across the posterior pole; systemic examination showed café-au-lait spots all over the patient's body. The patient had a clear family history. Genetic testing confirmed NF1. The right eye was treated with intravitreal ranibizumab injection, retinal lesion cryotherapy, and transscleral ciliary body photocoagulation. After treatment, RVPT scarring was observed. The patient's intraocular pressure remained within normal limits.
Conclusions:
We report a rare case of neurofibromatosis in a pediatric patient with neovascular glaucoma accompanied by RVPT. We suggest that evaluations of young patients with neovascular glaucoma should include careful attention to the overall condition of the patient and his/her parents, as well as family history. If necessary, NF1 molecular testing should be performed to avoid a missed diagnosis or misdiagnosis.
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