Treatments for spinal cord injury (SCI) still have limited effects. Electrical stimulation might facilitate plastic changes in affected spinal circuitries that may be beneficial in improving motor function and spasticity or SCI-related neuropathic pain. Based on available animal and clinical evidence, we critically reviewed the physiological basis and therapeutic action of transcutaneous spinal cord stimulation in SCI. We analyzed the literature published on PubMed to date, looking for the role of three main noninvasive stimulation techniques in the recovery process of SCI and focusing mainly on transcutaneous spinal stimulation. This review discusses the main clinical applications, latest advances, and limitations of noninvasive electrical stimulation of the spinal cord. Although most recent research in this topic has focused on transcutaneous spinal direct current stimulation (tsDCS), we also reviewed the technique of transcutaneous electric nerve stimulation (TENS) and neuromuscular electrical stimulation (NMES) as potential methods to modulate spinal cord plasticity. We also developed a finite element method (FEM) model to predict current flow in the spinal cord when using different electrode montages. We identified gaps in our knowledge of noninvasive electrical stimulation in the modulation of spinal neuronal networks in patients with SCI. tsDCS, TENS, and NMES have a positive influence on the promotion of plasticity in SCI. Although there are no randomized controlled studies of tsDCS in SCI, preliminary evidence is encouraging. FEMs predict that tsDCS electrode montage can be used to shape which spinal segments are modulated and what detailed areas of spinal anatomy can concentrate current density (eg, spinal roots). tsDCS is a technique that can influence conduction along ascending tracts in the spinal cord, so could modulate supraspinal activity. It may also be a promising new approach for a number of neuropsychiatric conditions.

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Background: Early blindness secondary to incurable retinal detachment is one of the main complications of incontinentia pigmenti (IP). The efficiency of ophthalmological management for preventing such evolution has not been proven. The objective of this retrospective study was to report a screening and treatment strategy of the vascular retinopathy in newborns and infants with IP. Results: All files of patients diagnosed with IP within the two first months of life in a single tertiary referral center, between 2010 and 2015, were retrospectively included. The minimum follow-up duration was three years. Patients had undergone systematic indirect ophthalmoscopy examination, looking for signs of peripheric retinal vasculopathy, according to a standardized schedule: at diagnosis, at age 1, 2, 3, 6, 9, 12, 18 and 24 months, and then once a year. Urgent laser therapy was performed under anesthesia in case of signs of retinal ischemia. Nineteen children files (17 girls) were studied. Median age at IP diagnosis was 1 day [0-44]; median age at first retinal evaluation was 25 days. Retinal manifestations occurred in 7 patients (n = 10/38 eyes, 26.3%); they were diagnosed at median age 19 days [3-59]. These patients underwent one or two ablative session per eye (mean 1.7, median 2), under general anaesthesia. No retinal detachment or fold occurred during the follow-up (median 6 years [3-9.8]). Conclusion: Ocular screening should be performed in all cases of IP as soon as possible after diagnosis. A strict ophthalmological monitoring and prophylactic treatment of retinal vasculopathy can efficiently prevent the early blinding complications of the disease.

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PurposeAniridia is a rare ocular disorder affecting beside iris, cornea, angle structures, lens and fovea, and possibly associated with other anomalies. This study aims at understanding features of patients with congenital aniridia, identifying the characteristics phenotypes of the disease and its associated anomalies.MethodsPatients affected by congenital aniridia were prospectively included and clinically examined at two french pediatric reference centers, with local ethics committee approval. Following parameters were assessed: sex ratio, sporadic or familial history, associated eye anomalies (glaucoma, limbal deficiency, cataract).ResultsThe study included 105 patients of the 135 registered at Ophtara Rare Disease Center with CEMARA data basis. The median age at last examination were 10 years old (3 days; 75 years) with a 65% rate and a mild female predominance (sex ratio 0.65). All patients had bilateral aniridia, with a remaining iris insertion uni or bilateral in 32 patients (30.5%). Thirty patients had a familial form of aniridia (28.6%). Aniridia was isolated in 94 p. (89.5%), and associated with 7 WAGR syndromes, one WAGRO syndrome, one Gillespie syndrome. Cataract was described in 51 patients (49%) – bi (41%) or unilateral (8%) –, limbal deficiency in 59 p. (56.2%), and glaucoma in 45 p. (42.9%). A mutation of the PAX6 gene was registered in 23 p. (21.9%), with no obvious genotype‐phenotype correlation. In absence of iris insertion, the relative risk of glaucoma was assessed at 1.6 (IC 95% [1.03; 2.58]).ConclusionsThe aniridia phenotype characteristics varies widely. Risk factors for glaucoma/limbal insufficiency have to be better defined by further studies and a standardization of the flow charts clinical elements to collect should provide better insight in further congenital aniridia data collection.