scholarly journals Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
C. C. Kruijt ◽  
N. E. Schalij-Delfos ◽  
G. C. de Wit ◽  
R. J. Florijn ◽  
M. M. van Genderen
Keyword(s):  
Visual Acuity ◽  
Visual Pathways ◽  
Oculocutaneous Albinism ◽  
Molecular Analyses ◽  
Normal Visual Acuity ◽  
Diagnostic Center ◽  
Novel Variants ◽  
Foveal Hypoplasia ◽  
First Time ◽  
Dutch Cohort

AbstractTo describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders. All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Six patients had poor visual acuity (0.6 to 1.0 logMAR), nystagmus, severe foveal hypoplasia and misrouting. We found two novel variants in the SLC45A2 gene, c.310C > T; (p.Pro104Ser), and c.1368 + 3_1368 + 9del; (p.?). OCA4 patients of this Dutch cohort all had hypopigmentation of skin, hair, and iris translucency. However, patients were either severely affected with regard to visual acuity, foveal hypoplasia, and misrouting, or visually not affected at all. We describe for the first time OCA4 patients with an evident lack of pigmentation, but normal visual acuity, normal foveal development and absence of misrouting. This implies that absence of melanin does not invariably lead to foveal hypoplasia and abnormal routing of the visual pathways.

An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits.

2021 ◽  
Author(s):  
Charlotte C Kruijt ◽  
Nicoline E Schalij-Delfos ◽  
Gerard C de Wit ◽  
Ralph F Florijn ◽  
Maria M van Genderen
Keyword(s):  
Visual Acuity ◽  
Visual Pathways ◽  
Oculocutaneous Albinism ◽  
Novel Mutations ◽  
Normal Visual Acuity ◽  
Diagnostic Center ◽  
Foveal Hypoplasia ◽  
Unusual Phenotype ◽  
First Time ◽  
Dutch Cohort

Abstract Purpose: To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4).Patients and Methods: We collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders.Results: All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Six patients had poor visual acuity (0.6 to 1.0 logMAR), nystagmus, severe foveal hypoplasia and misrouting. We found two novel mutations in the SLC45A2 gene, c.310C>T; p.(Pro104Ser), and c.1368+3_1368+9del p.(?).Discussion: OCA4 patients of this Dutch cohort all had hypopigmentation of skin, hair, and iris translucency. However, patients were either severely affected with regard to visual acuity, foveal hypoplasia, and misrouting, or visually not affected at all. We describe for the first time OCA4 patients with an evident lack of pigmentation, but normal visual acuity, normal foveal development and absence of misrouting. This implies that absence of melanin does not invariably lead to foveal hypoplasia and abnormal routing of the visual pathways.

First record of the soil cyanobacterium Nodosilinea epilithica (Synechococcales, Cyanobacteria) in Russia

2016 ◽  
Vol 50 ◽  
pp. 125-141
Author(s):  
A. D. Temraleeva ◽  
S. A. Dronova
Keyword(s):  
Chestnut Soil ◽  
First Record ◽  
Molecular Analyses ◽  
Dry Steppes ◽  
Cyanobacterial Culture ◽  
Volgograd Region ◽  
First Time

Nodosilinea epilithica Perkerson et Casamatta is reported for the first time for Russia. The sample was isolated from a typical chestnut soil in the zone of dry steppes (Volgograd Region) and its identity was confirmed by morphological and molecular analyses. The specific feature of the studied strain is its ability to form nodules at normal (60–75 μmol photons ∙ m-2 ∙ sec-1) light. The number of nodules is supposed to be related to the age of a cyanobacterial culture.

scholarly journals Phylogenomic Evidence of Reinfection and Persistence of SARS-CoV-2: First Report from Colombia

Vaccines ◽  
2021 ◽  
Vol 9 (3) ◽  
pp. 282
Author(s):  
Juan David Ramírez ◽  
Marina Muñoz ◽  
Nathalia Ballesteros ◽  
Luz H. Patiño ◽  
Sergio Castañeda ◽  
...  
Keyword(s):  
Viral Persistence ◽  
Transmission Dynamics ◽  
Polymorphism Analysis ◽  
Rt Pcr ◽  
Paired Samples ◽  
Infection Dynamics ◽  
Oxford Nanopore ◽  
Novel Variants ◽  
First Time ◽  
Oxford Nanopore Technologies

The continuing evolution of SARS-CoV-2 and the emergence of novel variants have raised concerns about possible reinfection events and potential changes in the coronavirus disease 2019 (COVID-19) transmission dynamics. Utilizing Oxford Nanopore technologies, we sequenced paired samples of three patients with positive RT-PCR results in a 1–2-month window period, and subsequent phylogenetics and genetic polymorphism analysis of these genomes was performed. Herein, we report, for the first time, genomic evidence of one case of reinfection in Colombia, exhibiting different SARS-CoV-2 lineage classifications between samples (B.1 and B.1.1.269). Furthermore, we report two cases of possible viral persistence, highlighting the importance of deepening our understanding on the evolutionary intra-host traits of this virus throughout different timeframes of disease progression. These results emphasize the relevance of genomic surveillance as a tool for understanding SARS-CoV-2 infection dynamics, and how this may translate effectively to future control and mitigations efforts, such as the national vaccination program.

The Effects of Prior Exposure To Light On the Imprinting Process in Domestic Chicks

Behaviour ◽  
1972 ◽  
Vol 42 (3-4) ◽  
pp. 279-290 ◽  
Author(s):  
P.P.G. Bateson ◽  
Averell A.P. Wainwright
Keyword(s):  
White Light ◽  
Visual Pathways ◽  
Prior Exposure ◽  
Constant Light ◽  
Dark Control ◽  
Clear Preference ◽  
Domestic Chicks ◽  
New Apparatus ◽  
Flashing Light ◽  
First Time

AbstractDomestic chicks were placed in isolation under a constant white light for 30 minutes. Afterwards these birds and a group previously kept in the dark were trained with a Red or a Yellow flashing light for 45 minutes. Subsequently all chicks were given a choice between familiar and unfamiliar flashing lights in some new apparatus which is described in detail for the first time. The chicks exposed to constant light showed a clear preference for the flashing light with which they had been trained whereas the Dark control chicks did not. It is suggested that the constant light activated their visual pathways enabling the Light-exposed chicks to learn more than the Dark control chicks during the imprinting procedure.

On the need for a legislative norm for high degrees of hypermetropia in relation to military-combatant services

1902 ◽  
Vol 2 (10) ◽  
pp. 567-567
Author(s):  
V. F. Velyamovich
Keyword(s):  
Visual Acuity ◽  
Military Service ◽  
Normal Visual Acuity ◽  
The Law

As for the current Russian laws on anomalies in the organs of vision that allow or restrict the ability to perform military service, hyperopia, for which the law does not specify a predetermined degree, is completely ignored, compatible with the requirements of military service. Any hyperopia, no matter how high its degree of abnormal refraction, is recognised as extremely suitable for military service, unless it has a normal visual acuity without glasses.

Foveal avascular zone in oculocutaneous albinism

2021 ◽  
Vol 14 (5) ◽  
pp. e240208
Author(s):  
Hana A Mansour ◽  
Sami Uwaydat ◽  
Muhamad H Yunis ◽  
Ahmad M Mansour
Keyword(s):  
Optical Coherence Tomography ◽  
Optical Coherence Tomography Angiography ◽  
Oculocutaneous Albinism ◽  
Foveal Avascular Zone ◽  
Optical Coherence ◽  
Retinal Capillary ◽  
Avascular Zone ◽  
Capillary Plexus ◽  
Foveal Hypoplasia

Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal hypoplasia.

scholarly journals Effectiveness of refractive error correction for people with oculocutaneous albinism in Nepal

2017 ◽  
Vol 8 (6) ◽  
pp. 30-34 ◽  
Author(s):  
Arjun M Bhari ◽  
Kabindra Bajracharya ◽  
Hari B Thapa ◽  
Maria Gautam ◽  
Araniko Pandey ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Error Correction ◽  
Oculocutaneous Albinism ◽  
Outreach Program ◽  
Refractive Errors ◽  
Medical Sciences ◽  
Telephone Contact ◽  
Refractive Correction ◽  
And Function ◽  
Objective Improvement

Background: Albinism is commonly associated with high refractive errors, but some clinicians are reluctant to prescribe glasses because reduced vision persists due to additional non-refractive visual problems.Aims and Objective: The purpose of this study was to evaluate the effectiveness of glasses in people with oculocutaneous albinism in Nepal.Materials and Methods: People with Oculocutaneous albinism (OCA) were prospectively examined through an outreach program of Lumbini Eye Institute, Nepal. Glasses were prescribed to determine the objective improvement in visual acuity (VA) and strabismus. Compliance with spectacles wear was assessed by telephone contact after 3 weeks and categorized as excellent: >75% of awake hours; good: 50–75% of awake hours; fair: 26–50% of awake hours and poor: <25%.Results: Thirty one people (65% male) mean age 18 years (range: 3 to 50) with OCA were examined. Mean refractive correction was –0.40±4.3 diopters spherical equivalents (range: −11.0 to +7.0 D). Mean visual acuity at distance was 0.9±0.28(6/50) corrected and 1.150.31(5/60) uncorrected (P = 0.000) in 62 eyes. Mean neat VA was1.74±0.89M corrected and 2.06±1.20M uncorrected (P = 0.004). Forty eight per cent (15 people) had fusion with or without glasses and one had fusion only with glasses. Compliance was excellent in 52% (16), fair in 26% (8), good in 12% (4), and poor in 10% (3).Conclusion: Providing eye glasses resulted in a clinically and functionally significant improvement in visual acuity and function in people with OCA.Asian Journal of Medical Sciences Vol.8(6) 2017 30-34

Bilateral Optic Nerve Hypoplasia with Normal Visual Acuity

1978 ◽  
Vol 86 (4) ◽  
pp. 524-529 ◽  
Author(s):  
Ake Bjork ◽  
C.-G. Laureix ◽  
Ulla Laurell
Keyword(s):  
Visual Acuity ◽  
Optic Nerve ◽  
Optic Nerve Hypoplasia ◽  
Normal Visual Acuity

scholarly journals Analysis of Clinical Characteristics of 19 Patients with Endophthalmitis Caused by Liver Abscess

2021 ◽  
Author(s):  
guangsen liu ◽  
Yue Li ◽  
Wei Wang ◽  
Lei Gao
Keyword(s):  
Visual Acuity ◽  
Liver Abscess ◽  
Diagnosis And Treatment ◽  
Endogenous Endophthalmitis ◽  
Klebsiella Pneumonia ◽  
Microbial Culture ◽  
Poor Vision ◽  
Ocular Symptoms ◽  
History Of ◽  
First Time

Abstract Objective: To analyze the clinical features, treatment, and prognosis of endophthalmitis caused by a liver abscess.Methods: All cases of endogenous endophthalmitis caused by a liver abscess in our hospital in the past 7 years were analyzed retrospectively. The data collected included age, sex, history of diabetes, initial and final vision, pathogen, course of the disease, treatment, and prognosis.Results: 21 eyes of 19 patients were complicated with liver abscess. The average age was 55.9 ±9.8 years old, including 10 males (52.6%) and 9 females (44.4%), 13 patients complicated with diabetes (71.4%), 14 patients (66.7%) first went to the ophthalmology department for diagnosis and treatment and 5 with hepatobiliary surgery (33.3%). 14 patients had a fever before onset, with an average fever time of 5.8 days. Before treatment, the duration of ocular symptoms was 7.71 ±6.68 days, 5.71 ±1.25 days for patients who go to ophthalmology for diagnosis and treatment for the first time, and 12.2 ±3.58 days for patients who go to other departments. After treatment, the average visual acuity of 21 eyes was 0.013, and the average best-corrected visual acuity was 0.79. In the 21 eyes, vitreous fluid culture was positive in 7 eyes (33.3%), all of which were Klebsiella pneumonia. Among the 14 patients with fever during hospitalization, 5 cases were positive for blood microbial culture, all of which were Klebsiella pneumonia. After vitrectomy, the average visual acuity was improved by 4.90 ±2.47 letters and that of patients without vitrectomy was-0.25±0.16letters. The visual acuity of patients who underwent postoperative visual was significantly better than that of patients without postoperative visual (P＜0.096). The visual acuity of patients without vitrectomy was significantly higher than that of patients without vitrectomy (P ＜0.01). 3 eyes (33.3%) of 9 eyes in the IVI group were removed because of uncontrolled inflammation, and 1 eye of 12 eyes in the PPV group was removed because of inflammation recurrence.Conclusion: The prognosis of endogenous endophthalmitis caused by liver abscess is generally poor, but early treatment can save part of the vision. The first visit non-ophthalmology department will delay the early diagnosis of the disease. Diabetes is an important risk factor for endogenous endophthalmitis and poor vision in patients with liver abscess. Klebsiella pneumonia is the main pathogen of intraocular infection. Vitrectomy combined with vitreous injection of antibiotics can improve the prognosis. A systematic and thorough treatment of a liver abscess is of great significance to prevent the recurrence of endophthalmitis in a liver abscess.

scholarly journals Effects of spectacles and telescopes on visual function in students with oculocutaneous albinism

2020 ◽  
Vol 20 (2) ◽  
pp. 758-767
Author(s):  
Siddeeqa Jhetam ◽  
Khathutshelo P Mashige
Keyword(s):  
Visual Acuity ◽  
Contrast Sensitivity ◽  
Reading Rate ◽  
Oculocutaneous Albinism ◽  
Eye Care ◽  
Significant Difference ◽  
Observational Study Design ◽  
The Mean ◽  
Better Than ◽  
Spectacle Correction

Purpose: To investigate the effects of spectacle and telescope corrections on visual acuity (VA), contrast sensitivity (CS) and reading rates (RR) in students with oculocutaneous albinism (OCA). Methods: An observational study design was conducted on 81 students with OCA. Distance and near VA, CS and RR were measured without correction, with spectacle correction and with a combination of spectacle correction and telescopes. Results: The mean distance and near VA values with a combination of spectacle correction and telescopes were significantly better than those without correction and with spectacle correction alone (p = 0.01). Mean CS values achieved with spectacles alone were significantly better than those obtained with a combination of spectacles and telescopes (p = 0.01). There was no significant difference between logCS values obtained without correction compared to those obtained with a combination of spectacle correction and telescopes. There were no significant differences between RR values obtained with a combination of spectacles and telescopes and those without and with spectacle correction alone (all p > 0.05). Conclusion: This article provides valuable information to eye care practitioners on the effects of spectacles and telescopes on visual acuity, contrast sensitivity and reading rate in students with OCA. Keywords: Oculocutaneous albinism; visual acuity; telescope; contrast sensitivity; reading rate.

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