Anna Majander
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View article: PREVALENCE AND DEGREE OF RETINAL VASCULATURE ALTERATIONS IN ADULTS BORN PRETERM WITH VERY LOW BIRTH WEIGHT
PREVALENCE AND DEGREE OF RETINAL VASCULATURE ALTERATIONS IN ADULTS BORN PRETERM WITH VERY LOW BIRTH WEIGHT Open
Purpose: To assess the prevalence and degree of retinal vascular abnormalities in retinopathy of prematurity-treatment naïve adults born preterm with very low birth weight (VLBW; birth weight <1500 g). Methods: Both eyes of 64 VLBW partici…
View article: Visual pathway function in adults born preterm with very low birth weight: a two-country birth cohort study
Visual pathway function in adults born preterm with very low birth weight: a two-country birth cohort study Open
View article: A retrospective longitudinal study of 52 Finnish patients with X‐linked retinoschisis
A retrospective longitudinal study of 52 Finnish patients with X‐linked retinoschisis Open
Purpose To describe clinical characteristics in Finnish patients with X‐linked retinoschisis (XLRS) longitudinally with emphasis on retinal morphology and genotype–phenotype correlations. Methods A retrospective cohort study reviewed medic…
View article: Imprint of preterm birth with very low birth weight on optic disc <scp>OCT</scp> in adulthood—A two‐country birth cohort study
Imprint of preterm birth with very low birth weight on optic disc <span>OCT</span> in adulthood—A two‐country birth cohort study Open
Purpose To determine the pattern, degree and prevalence of optic disc optical coherence tomography (OCT) alterations in adults born preterm with very low birth weight (VLBW; birth weight < 1500 g). Methods Optic disc OCT was assessed in 98…
View article: Foveal thickness and its association with visual acuity in adults born preterm with very low birth weight: A two‐country birth cohort study
Foveal thickness and its association with visual acuity in adults born preterm with very low birth weight: A two‐country birth cohort study Open
Purpose To explore foveal and parafoveal thickness in adults born preterm with very low birth weight (VLBW) and its association with best‐corrected visual acuity (BCVA) and gestational age (GA) compared to adults born at term. Methods In a…
View article: Visual function in adults born preterm with very low birth weight—A two‐country birth cohort study
Visual function in adults born preterm with very low birth weight—A two‐country birth cohort study Open
Purpose The purpose of the study was to investigate visual function and vision‐related general health in adults that were born preterm with very low birth weight (VLBW: birth weight < 1500 g) in their 30s–40s. Methods We recruited 137 adul…
View article: Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma
Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma Open
Purpose To identify germline variants in myocilin ( MYOC ) and other known monogenic glaucoma genes in Finnish patients with juvenile open‐angle glaucoma (JOAG). Methods Finnish patients with JOAG treated between 2010 and 2018 at the Depar…
View article: Natural history and biomarkers of retinal dystrophy caused by the biallelic <i>TULP1</i> variant c.148delG
Natural history and biomarkers of retinal dystrophy caused by the biallelic <i>TULP1</i> variant c.148delG Open
Purpose To report clinical features and potential disease markers of inherited retinal dystrophy (IRD) caused by the biallelic c.148delG variant in the tubby‐like protein 1 ( TULP1 ) gene. Methods A retrospective observational study of 16 …
View article: WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression Open
View article: Clinical Spectrum and Geographic Distribution of Keratitis Fugax Hereditaria Caused by the Pathogenic Variant c.61G>C in NLRP3
Clinical Spectrum and Geographic Distribution of Keratitis Fugax Hereditaria Caused by the Pathogenic Variant c.61G>C in NLRP3 Open
Symptoms and signs of KFH are restricted to the anterior segment of the eye and vary widely between individuals. We recommend scleral contact lenses as the first-line treatment for reduced vision. Allele frequencies suggest that KFH goes u…
View article: WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome Open
Background Wolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most patients have variants in the WFS1 gene. We undertook functional studies of WFS1 variants and corre…
View article: In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3
In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3 Open
The acute attacks and chronic stromal deposits mainly involve the anterior to middle layers of the corneal stroma, and the disease is primarily a keratitis rather than a keratoendotheliitis. IVCM shows that inflammatory cells invade only t…
View article: Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches Open
View article: Inflammasomigeeni NLRP3:n mutaatio aiheuttaa periytyvän sarveiskalvotulehduksen
Inflammasomigeeni NLRP3:n mutaatio aiheuttaa periytyvän sarveiskalvotulehduksen Open
View article: The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy
The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy Open
View article: The Pattern of Retinal Ganglion Cell Loss in <i>OPA1</i>-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses
The Pattern of Retinal Ganglion Cell Loss in <i>OPA1</i>-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses Open
Losses of midget parvocellular, parasol magnocellular, and bistratified koniocellular RGCs could account for the losses of high spatial frequency sensitivity and protan and deutan sensitivities, high temporal frequency sensitivity, and S-c…
View article: Indications and outcomes of keratoplasties in children during a 40‐year period
Indications and outcomes of keratoplasties in children during a 40‐year period Open
Purpose To report the indications and the outcomes of keratoplasties in children over four decades. Methods A retrospective cohort study of patients aged 16 years or younger who underwent keratoplasty in the Helsinki University Eye Hospita…
View article: Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations
Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations Open