Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.

: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is characterized by the presence of juvenile-onset diabetes mellitus (DM), progressive optic atrophy (OA), diabetes insipidus (DI), and sensorineural deafness (D), often referred to by the acronym DIDMOAD. It is a severe neurodegenerative disease with a life expectancy of 39 years, with death occurring due to cerebral atrophy.

Advanced ImageJ Analysis in Degenerative Acquired Vitelliform Lesions Using Techniques Based on Optical Coherence Tomography.

Acquired vitelliform lesions (AVLs) are associated with a large spectrum of retinal diseases, among which is age-related macular degeneration (AMD). The purpose of this study was to characterize AVLs' evolution in AMD patients using optical coherence tomography (OCT) technology and ImageJ software. We measured AVLs' size and density and followed their impacts over surrounding retinal layers.