Neurofibromatosis type 1 in children

In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients

“…10,15 The ophthalmoscopic assessment of fine optic disc alterations (or the challenging evaluation of fluctuating visual acuities) in small children to detect OPG, as well as the quantification of Lisch nodules, which commonly are visualized (or ''become visible'') only after the diagnosis of NF1, are clear examples of this problem. 10,15 In 1995, Beauchamp 15 analyzed 151 NF1 patients to characterize the incidence of iris changes consistent with NF1, including their variability and reliability. 10 The masked evaluation yielded fair to poor correlation, raising the question of their clinical reliability and validity.…”

An Update on the Ophthalmologic Features in the Phakomatoses

“…Ragge et al reported that they were more frequently localized in the inferior hemifield due to the sunlight-shielding effects of the upper eyelid [ 28 ]; however, in our study we did not find a predilection for any specific area [ 27 ]. Lisch nodules are easily observed with slit lamp examination; however, they can be difficult to detect due to poor cooperation of young patients, when they are small or flat, or when they are localized in the iris crypts [ 31 ] ( Figure 2 ). Lisch nodules should not be confused with iris mammillations found in ocular melanosis which are smooth and homogenously distributed iris nodules that are commonly unilateral [ 32 , 33 ].…”

Neurofibromatosis Type I: Genetics and Clinical Manifestations

“…Diagnosis is based on having two or more of the criteria listed in Table 1 (NIH 1988). Beauchamp reported the prevalence of each of these diagnostic findings in children at the following rates: café-au-lait macules (98%), intertriginous freckling (81%), neurofibromas (15%), osseous lesions (>60%), Lisch nodules (50-90%), optic gliomas (15%) (Beauchamp, 1995). A summary of the clinical manifestations of NF-1 can be seen in Table 2.…”

“…One study of 196 patients with NF-1 found Lisch nodules in 53% of patients under the age of 10 and 100% over age 29 (Beauchamp, 1995). Lisch nodules have been categorized into phenotypic variants including: lumpy-bumpy, peanut butter splat, moonscape, peppercorn, fishy, cotton-wool surface, hypopigmentation defect and confluent based on their clinical appearance (Beauchamp, 1995). These distinctions have no clinical or prognostic significance and are merely descriptive terms.…”