USH2A mutation is the most common cause of retinitis pigmentosa, with or without hearing impairment. Patients most commonly exhibit hyperautofluorescent ring on fundus autofluorescence imaging (FAF) and rod-cone dystrophy on electrophysiology. A detailed study of three USH2A patients with a rare pattern of double hyperautofluorescent rings was performed. Twenty-four patients with typical single hyperautofluorescent rings were used for comparison of the ages of onset, visual fields, optical coherence tomography, electrophysiology, and audiograms. Double rings delineated the area of pericentral retinal degeneration in all cases. Two patients exhibited rod-cone dystrophy, whereas the third had a cone-rod dystrophy type of dysfunction on electrophysiology. There was minimal progression on follow-up in all three. Patients with double rings had significantly better visual acuity, cone function, and auditory performance than the single ring group. Double rings were associated with combinations of null and missense mutations, none of the latter found in the single ring patients. According to these findings, the double hyperautofluorescent rings indicate a mild subtype of USH2A disease, characterized by pericentral retinal degeneration, mild to moderate hearing loss, and either a rod-cone or cone-rod pattern on electrophysiology, the latter expanding the known clinical spectrum of USH2A-retinopathy.
COBISS.SI-ID: 34598361
This study shows toxic effects of chloroquine on retina and addresses differences in susceptibility to toxicity.
COBISS.SI-ID: 6996652
The paper presents the first time the use of OCT angiography for choroidal function in pre term children.
COBISS.SI-ID: 60004099
Purpose Rejection is the leading cause of failure of limbal allogafts. Resident dendritic cell (DC) maturation plays a critical role in host allosensitization. There are two lineages: myeloid (mDC) and lymphoid (pDC), with different biological properties. The aim was to analyse the distribution of DC subtypes in limbal explant cultures on amniotic membrane (AM), cultivated on either the epithelial or stromal side and to compare the results with directly isolated cells from cadaveric whole corneoscleral tissue divided into specific areas. Methods The expression of CD11c (mDC), CD303/CD123 (pDC) and costimulatory molecules CD80, CD86 and activation markers HLA%DR, CD83 was investigated by flow cytometry. Additionally, the corneal epithelium marker CK12 and ABCB5, a new epithelial stem cell marker, were investigated. Results Cells positive for pDC and mDC markers were found in all examined areas, with a nonsignificant prevalence of pDC. In limbal explant cultures on AM, the percentage of pDC and mDC was similar, with no statistically significant difference between cultures on epithelial or stromal sides of AM. However, with ex vivo limbal explant cultivation on AM, the pDC content declined significantly (p ( 0.05) and the ABCB5 marker was likewise statistically significantly reduced. Conclusion This is the first study to characterize the distribution of pDC and mDC subsets in cultured and noncultured human corneolimbal tissue. Additionally, ABCB5 positive cells were...
COBISS.SI-ID: 33913561
Insect compound eyes are a random array of 2 or more subtypes of optical units, the ommatidia. Some ommatidia may contain photoreceptors sensitive to polarized light, but their functional integration into the visual system has not been explained. Here, we report that horsefly retina contains 2 ommatidial subtypes that separately analyze polarization of light and color. Horseflies seek their prey by detecting polarized reflections from animal fur. We explain why horseflies are attracted to shiny and to blue objects. Understanding this mechanism will help in controlling fly disease vectors. This study gives an explanation for ommatidial subtype specialization that goes beyond explanation of color vision of insect eyes.
COBISS.SI-ID: 5188175