Publications by authors named "M N Preising"
Article Synopsis
- Congenital stationary night blindness (CSNB) is a genetic eye condition often linked to high myopia, which can lead to serious retinal issues, making understanding myopic progression crucial for potential treatments.
- The study analyzed cases of CSNB associated with specific genetic variants in patients under 18 who had multiple eye measurements, using a mixed-effect model to track changes in myopia over time.
- Results showed that individuals with CSNB are significantly myopic from birth and continue to experience worsening myopia as they grow, suggesting they may benefit from treatments aimed at slowing down myopia progression.
Purpose: To assess the impact of baseline data on psychophysical and morphological outcomes of subretinal voretigene neparvovec (VN) (Luxturna, Spark Therapeutics, Inc.) treatment.
Design: Single-center, retrospective, longitudinal, consecutive case series.
Article Synopsis
- Blue cone monochromacy (BCM) is an X-linked retinal disorder leading to low vision, sensitivity to light, and difficulty distinguishing colors due to mutations in a gene cluster on the X chromosome.
- In a study of 213 BCM families, about one-third were found to carry structural variants (SVs), predominantly deletions within the affected gene cluster, with 42 distinct SVs identified, including many new ones.
- A common SV was found in 22 families from the U.S., indicating a single ancestral mutation, while the study suggests that the structure of the gene cluster makes it vulnerable to these genetic variations.
Delirium is a highly relevant complication of surgical interventions. Current research indicates that despite increased awareness for delirium, it is often overlooked. We implemented an AI-based tool to monitor delirium in cardiac surgery patients in our specialist clinic.
View Article and Find Full Text PDFInfantile nystagmus syndrome (INS) denominates early-onset, involuntary oscillatory eye movements with different etiologies. Nystagmus is also one of the symptoms in oculocutaneus albinism (OCA), a heterogeneous disease mainly caused by defects in melanin synthesis or melanosome biogenesis. Dopachrome tautomerase (DCT, also called TYRP2) together with tyrosinase (TYR) and tyrosin-related protein 1 (TYRP1) is one of the key enzymes in melanin synthesis.
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