Multimodal Imaging of Choroidal Nodules in Neurofibromatosis Type I.

AIM: To clarify the possibilities and role of posterior segment imaging in patients with neurofibromatosis type I (NF1), and to show the prevalence of this disease in the pediatric population in Slovakia. MATERIAL AND METHODS: Until recently, ophthalmologic consultations in patients with NF1 were limited mainly to the observation of Lisch nodules of the iris and the presence of optic nerve glioma. However, advances in imaging capabilities have made it possible to investigate and describe new f indings concerning the ocular manifestations of this disease. Between October 2020 and November 2021, we examined the anterior and posterior segment of 76 eyes (38 children ­ 12 boys and 26 girls) with genetically confirmed NF1 gene mutation at our clinic. The age of the patients ranged from 4 to 18 years. The anterior segment was checked for the presence of Lisch nodules biomicroscopically with a slit lamp. On the posterior segment, the presence of choroidal nodules was checked by various imaging methods ­ fundus camera, infrared confocal selective laser ophthalmoscopy, MultiColor imaging, OCT, and OCT angiography. All the patients had magnetic resonance imaging performed in order to detect potential optic nerve gliomas for the purpose of diagnosis. We observed the correlation between the patients' age, presence of Lisch nodules and the presence of choroidal nodules. Eight patients also had other manifestations of the disease ­ optic nerve gliomas or microvascular changes (so-called "corkscrew" vessels). RESULTS: Out of 38 patients, Lisch iris nodules were present in 20 patients (53%) and choroidal nodules in 24 patients (63%). There was no positive correlation between the presence of these two manifestations within the same patient or eye, but there is a clear correlation between the presence of choroidal nodules and patient age. CONCLUSION: The results suggest that a previously unknown ocular manifestation of neurofibromatosis type I, namely choroidal nodules, has a higher prevalence than Lisch nodules also in the pediatric population and can be easily visualized using various imaging modalities. It will be important to include follow-up observation of this finding among the standard controls for ocular findings in NF1, and it will be very interesting to correlate this f inding with the exact NF1 mutation

Confluent diode laser coagulation: the gold standard of therapy for retinopathy of prematurity.

PURPOSE: The authors compare results of retinopathy of prematurity treatment with single-spot diode laser coagulation (DLC) versus confluent DLC. The final anatomical outcome and need for additional therapy, such as additional DLC, cryotherapy, scleral buckling, and intravitreal bevacizumab, were evaluated. METHODS: A retrospective review of patients with threshold retinopathy of prematurity treated between January 2001 and October 2012 was conducted. Single-spot laser treatment or confluent laser treatment was applied anterior to the ridge extending to the ora serrata. In the first group (the single-spot group), a single-spot DLC was used between January 2001 and May 2008. The single-spot group included 338 patients (671 eyes) with retinopathy of prematurity. In the second group (the confluent group), confluent DLC was used in 326 patients (652 eyes) between June 2008 and October 2012. The authors compared the need for re-treatment to achieve regression of retinopathy of prematurity in both groups. The rate of progression, frequency of re-treatment, complications, and structural outcomes were evaluated. RESULTS: In the single-spot group, re-treatment only with DLC was necessary in 43 (6.4%) eyes, additional cryotherapy was performed in 22 (3.3%) eyes, and scleral buckling in 107 (15.9%) eyes. Altogether, additional therapy was used in 172 (25.6%) eyes. In the confluent group, re-treatment with DLC was used in 5 (0.8%) eyes, additional cryotherapy in 6 (0.9%) eyes, scleral buckling in 16 (2.5%) eyes, and intravitreal bevacizumab in 14 (2.1%) eyes. Altogether, additional therapy was used in 41 (6.3%) eyes. The confluent group showed a favorable anatomical outcome in 99.1% of the cases compared with 96.4% in the single-spot group. The results were statistically significant (P = .001.) CONCLUSIONS: The DLC method was significantly more effective than single-spot DLC in the treatment of retinopathy of prematurity.