Department of Ophthalmology and Visual Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
Department of Ophthalmology and Vision Science, University of Toronto, Toronto, Ontario, Canada.
Transl Vis Sci Technol. 2022 Feb 1;11(2):10. doi: 10.1167/tvst.11.2.10.
To determine the prevalence of choroidal abnormalities (CAs) and Lisch nodules (LNs) in children who met the clinical diagnostic criteria (CDC) alone and those with a molecularly confirmed diagnosis (MCD) of neurofibromatosis type 1 (NF1), and to ascertain any differences between the groups.
This was a cross-sectional observational study. All children who met the CDC and/or had MCD of NF1 and underwent eye examination were included. At least two CAs or LNs between the two eyes were set as a threshold to define the presence of either abnormality. Frequencies alongside 95% confidence intervals (CIs) were calculated. The relationship between patient age and the presence of LNs and/or CAs was estimated using logistic regression.
The study cohort included 94 patients; CAs (64%) were more prevalent than LNs (41%) (0.22; 95% CI, 0.08-0.36; P = 0.0023). The probability of the presence of LNs was lower than that of CAs across all ages (odds ratio = 0.37; 95% CI, 0.20-0.69; P = 0.00173). CAs were exclusively found in 37% of patients and LNs in 16%; 80% had either CAs or LNs, or both. In the CDC group (n = 41), the difference in prevalence (CAs = 68%, LNs = 51%) did not attain statistical significance (0.17; 95% CI, -0.06 to 0.40; P = 0.18). In the MCD group (n = 53), the difference in prevalence (CAs = 60%, LNs = 34%) was significant (0.26; 95% CI, 0.006-0.47; P = 0.023).
CAs were more frequent than LNs in pediatric NF1 patients regardless of age and MCD status. Combining ophthalmological exams with near-infrared imaging will increase the diagnostic reach in pediatric NF1.
CAs detected on near-infrared imaging are objective biomarkers in NF1. They are more prevalent and detected earlier in the pediatric population compared with LNs. Hence, the presence of CAs should be routinely ascertained in children suspected with NF1.
确定仅符合临床诊断标准（CDC）和具有明确分子诊断（MCD）的 1 型神经纤维瘤病（NF1）儿童的脉络膜异常（CAs）和神经纤维瘤（LNs）的患病率，并确定两组之间的任何差异。
这是一项横断面观察性研究。所有符合 CDC 标准和/或具有 NF1 的 MCD 并接受眼部检查的儿童均被纳入研究。双眼之间至少存在两个 CAs 或 LNs 被定义为存在任何异常的阈值。计算了频率和 95%置信区间（CI）。使用逻辑回归估计患者年龄与 LNs 和/或 CAs 存在之间的关系。
研究队列包括 94 名患者；CAs（64%）比 LNs（41%）更常见（0.22；95%CI，0.08-0.36；P=0.0023）。在所有年龄段，LNs 的存在概率均低于 CAs（优势比=0.37；95%CI，0.20-0.69；P=0.00173）。CAs 仅在 37%的患者中发现，而 LNs 仅在 16%的患者中发现；80%的患者存在 CAs 或 LNs，或两者均存在。在 CDC 组（n=41），患病率的差异（CAs=68%，LNs=51%）无统计学意义（0.17；95%CI，-0.06 至 0.40；P=0.18）。在 MCD 组（n=53），患病率的差异（CAs=60%，LNs=34%）有统计学意义（0.26；95%CI，0.006-0.47；P=0.023）。
无论年龄和 MCD 状态如何，儿科 NF1 患者中 CAs 的发生率均高于 LNs。将眼科检查与近红外成像相结合将增加儿科 NF1 的诊断范围。
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