Morales Jose, Chaudhry Imtiaz A, Bosley Thomas M
Glaucoma Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Ophthalmology. 2009 Sep;116(9):1725-30. doi: 10.1016/j.ophtha.2009.06.019.
To describe the features of glaucoma and globe enlargement sometimes associated with neurofibromatosis type 1 (NF1).
Single institution, retrospective, and cross-sectional study.
Eighty medical records of patients treated at King Khaled Eye Specialist Hospital in Saudi Arabia with NF1 were reviewed, and 46 patients were examined.
We reviewed the charts of patients with NF1 and examined available individuals, including gonioscopy, axial length, and ultrasound biomicroscopy in appropriate patients.
Presence and type of glaucoma, anterior chamber angle abnormalities, globe axial length, ultrasound biomicroscopy, and visual outcome.
Two patient groups were identified: Group 1 had 56 patients with orbito-facial NF1, and group 2 had 24 patients with NF1 but without orbito-facial involvement. Group 1 included 13 patients with glaucoma (23%), which occurred only ipsilateral to the orbito-facial involvement and generally presented before age 3 years. Glaucoma surgery was required in all of these patients, and visual prognosis was poor. In group 1, mean axial length on the side affected by NF1 was 29.8+/-4.1 mm in patients with glaucoma and 25.6+/-2.0 mm in patients without glaucoma. Patients with glaucoma (P<0.001) and without glaucoma (P<0.0001) in group 1 had significantly larger globes on the affected side. Group 2 patients had a mean axial length of 23.6+/-1.6 mm for both eyes without significant globe asymmetry.
In this Arab population, glaucoma associated with orbito-facial NF1 occurred less often than the 50% rate that is typically cited. Glaucoma presented early in life and only in patients with ipsilateral orbito-facial involvement. Glaucoma in this setting was always associated with globe enlargement. Glaucoma required surgery, and visual prognosis was poor because of glaucoma and concurrent pathology. Globe enlargement was most severe when associated with glaucoma but also present on the side with orbito-facial involvement in patients without glaucoma. The presence of neurofibroma may induce globe enlargement on the affected side in orbito-facial NF1.
FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
描述有时与1型神经纤维瘤病（NF1）相关的青光眼和眼球增大的特征。
单机构、回顾性横断面研究。
回顾了沙特阿拉伯国王哈立德眼科专科医院治疗的80例NF1患者的病历，并对46例患者进行了检查。
我们查阅了NF1患者的病历，并对可检查的个体进行了检查，包括对合适患者进行前房角镜检查、眼轴长度测量和超声生物显微镜检查。
青光眼的存在及类型、前房角异常、眼球轴长、超声生物显微镜检查结果及视力预后。
确定了两个患者组：第1组有56例眼眶面部NF1患者，第2组有24例NF1患者但无眼眶面部受累。第1组包括13例青光眼患者（23%），仅在眼眶面部受累的同侧发生，且通常在3岁前出现。所有这些患者均需要进行青光眼手术，视力预后较差。在第1组中，青光眼患者患侧的平均眼轴长度为29.8±4.1mm，无青光眼患者为25.6±2.0mm。第1组中有青光眼（P<0.001）和无青光眼（P<0.0001）的患者患侧眼球明显更大。第2组患者双眼的平均眼轴长度为23.6±1.6mm，无明显的眼球不对称。
在这个阿拉伯人群中，与眼眶面部NF1相关的青光眼发生率低于通常引用的50%。青光眼在生命早期出现，且仅见于同侧眼眶面部受累的患者。这种情况下的青光眼总是与眼球增大有关。青光眼需要手术治疗，由于青光眼和并发病变，视力预后较差。眼球增大在与青光眼相关时最为严重，但在无青光眼的眼眶面部受累侧也存在。神经纤维瘤的存在可能导致眼眶面部NF1患者患侧眼球增大。
作者对本文讨论的任何材料均无所有权或商业利益。
