Webster A R, Maher E R, Bird A C, Gregor Z J, Moore A T
Department of Ophthalmology, Addenbrooke's Hospital, Cambridge University, England, UK.
Ophthalmology. 1999 Mar;106(3):623-9. doi: 10.1016/S0161-6420(99)90127-6.
To determine whether ocular angioma can occur in the absence of von Hippel Lindau (VHL) syndrome, to define the clinical characteristics of sporadic (non-VHL) angioma, and to estimate a prevalence for sporadic ocular angioma.
A cross-sectional study of a cohort of patients with apparent sporadic ocular angiomatosis recruited from throughout the United Kingdom.
Clinical details and a family history were obtained for the patients in the cohort. Systematic ocular examination and further systemic screening were performed on the patients and relatives when possible. Leukocyte DNA was examined for VHL germline mutations.
Patients with solitary and typical VHL-like ocular angioma, without clinical and family histories for VHL, were selected as possible sporadic (non-VHL) ocular angioma cases. An estimate of the population prevalence of sporadic (non-VHL) ocular angioma was made from patients presenting in the East Anglian region of the United Kingdom over a 25-year period.
From 32 patients referred, 17 had typical solitary ocular angioma and no evidence of other VHL complications in themselves or in family members. All 17 patients were negative for germline VHL mutations. The mean age of presentation was 30.9 years (median, 27.5; range, 3-52); 11 of 17 eyes suffered visual loss and 4 of 17 tumors occurred on the optic disc. The estimated prevalence of non-VHL ocular angioma was 9.0 x 10(-6), 95% confidence interval (CI) = 3.3 - 19 x 10(-6) (1 in 110,000 persons, 95% CI = 1 in 53,000-300,000).
Sporadic ocular angioma can occur in the absence of VHL disease but appears less prevalently than VHL itself. The age of presentation, degree of visual morbidity, complications, morphology, and anatomic location of tumors are similar to those seen in VHL disease.
确定眼部血管瘤是否可在无冯·希佩尔-林道（VHL）综合征的情况下发生，明确散发性（非VHL）血管瘤的临床特征，并估算散发性眼部血管瘤的患病率。
对从英国各地招募的明显散发性眼部血管瘤病患者队列进行横断面研究。
获取队列中患者的临床细节和家族史。尽可能对患者及其亲属进行系统的眼部检查和进一步的全身筛查。检测白细胞DNA中的VHL种系突变。
将患有孤立性且典型的VHL样眼部血管瘤、无VHL临床及家族史的患者选为可能的散发性（非VHL）眼部血管瘤病例。根据在英国东安格利亚地区25年间就诊的患者估算散发性（非VHL）眼部血管瘤的人群患病率。
在转诊的32例患者中，17例有典型的孤立性眼部血管瘤，且其自身及家庭成员均无其他VHL并发症的证据。所有17例患者的VHL种系突变均为阴性。发病的平均年龄为30.9岁（中位数为27.5岁；范围为3 - 52岁）；17只眼中有11只出现视力丧失，17个肿瘤中有4个发生在视盘。非VHL眼部血管瘤的估计患病率为9.0×10⁻⁶，95%置信区间（CI）= 3.3 - 19×10⁻⁶（每110,000人中有1例，95% CI =每53,000 - 300,000人中有1例）。
散发性眼部血管瘤可在无VHL病的情况下发生，但患病率似乎低于VHL病本身。肿瘤的发病年龄、视觉损害程度、并发症、形态及解剖位置与VHL病所见相似。
