[Multimodal diagnostic of CSNB1 with NYX gene mutation]. / Stufendiagnostik einer CSNB1 mit NYX-Genmutation.

This article presents the case of a young male patient with complete congenital stationary night blindness (CSNB1). The informative value of the general medical history and clinical findings for the diagnosis was impaired due to language barriers and low compliance. Full-field electroretinography and optical coherence tomography help to define particular hereditary retinal dystrophies. Molecular genetic analysis by next generation sequencing as a part of multimodal diagnostics finally uncovered a rare, causal missense mutation in the nyctalopin (NYX) gene.

[Evaluation of the medical treatment situation of the visually impaired : Significant differences between young and old]. / Evaluation der Versorgungssituation von Sehbehinderten : Signifikante Unterschiede zwischen Jung und Alt.

BACKGROUND AND OBJECTIVE: Patients with irreversible visual impairment need individual visual rehabilitation to regain or improve reading ability and mobility. To analyze the prescription of low vision aids (LVA) and their relation to age, we performed a retrospective chart analysis of our specialized low vision outpatient clinic. METHODS: Patient charts of all patients who attended our low vision outpatient clinic from 2014-2016 were analyzed with respect to the diagnosis, visual acuity, magnification needs, age and prescribed or used LVA. RESULTS: The evaluation comprised data from 1548 patients (age 0-97 years). Most patients (72%) were underage (<18 years). Retinoblastoma (11%), congenital cataract (10%) and age-related macular degeneration (AMD, 6%) were the most frequent diagnoses. Mean magnification need of the 568 patients with LVAs was 9.9 ± 7. Desktop video magnifiers (22%), cut-off filter spectacles (15%) and electronic magnifiers (13%) were most commonly prescribed. Children and juveniles used smart phones and tablets (smart devices) as a LVA significantly more often (8% vs. 0.6%, p < 0.01) compared to older visually impaired patients (>60 years). Electronic magnifying devices were more often prescribed to these older patients (30% vs. 3%, p < 0.01). CONCLUSION: The visual rehabilitation showed significant differences between underage and older visually impaired patients. Children and juveniles needed electronic magnifiers less often because they used smart devices as a mobile LVA. This significant difference might be due to much lower social stigmatization of smart devices and the higher affinity to technology of this age group. Based on the positive experiences of younger visually impaired patients, such smart devices should also be introduced to older patients.