[Benign recurrent 6th nerve palsy].

Benign recurrent sixth nerve palsy is a rare phenomenon, and the majority of reported cases suffer from their first episode in early childhood. In this case report, we present a benign recurrent isolated left 6th nerve palsy in a nine-year-old boy. All episodes were precipitated by an upper respiratory tract infection and resolved within 2-3 weeks.

Tracking visual outcomes - Follow-up on patients born preterm with childhood-onset visual impairment.

Purpose: Preterm birth is associated with a risk of ocular complications. The primary aim of the study was to evaluate the main cause of visual impairment (VI) in a cohort of preterm born patients who had childhood-onset VI. The association between health-related quality of life (HRQoL) and age, cause-and severity of VI and impairment type was assessed.

Macular retinal nerve fiber layer thickness in retinitis pigmentosa patients with and without optic disc drusen.

Introduction: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration. In a recent study, we reported co-existing optic disc drusen (ODD) at 30%, a prevalence 15 times higher than in the general population. The aims of this study were to a) assess if macular retinal nerve fiber layer thickness (RNFLt) was increased in our cohort of RP patients and b) compare RNFLt between RP patients with and without ODD.

Peripapillary hyperreflective ovoid mass-like structure (PHOMS): prevalence, risk factors, and development over time in Danish myopic children.

Background: On optical coherence tomography (OCT) scans of the optic nerve head, peripapillary hyperreflective ovoid mass-like structures (PHOMS) are sometimes seen as a sign of axonal distension. The phenomenon has been reported more frequently in myopic subjects. We investigated PHOMS-prevalence in a myopic pediatric cohort, associated risk factors, and PHOMS development over 18 months during low-dose atropine treatment.

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Gain-of-function variants in GFAP leads to protein aggregation and is the cause of the severe neurodegenerative disorder Alexander Disease (AxD), while loss of GFAP function has been considered benign. Here, we investigated a six-generation family, where multiple individuals presented with gliosis of the optic nerve head and visual impairment. Whole genome sequencing (WGS) revealed a frameshift variant in GFAP (c.

Evaluating the Feasibility of a Telescreening Program for Retinopathy of Prematurity (ROP) in Denmark.

: This study investigates the feasibility of implementing telescreening for retinopathy of prematurity (ROP) using the ICON GO widefield camera operated by a non-physician healthcare professional (NPHP). We hypothesized that images captured by an NPHP are adequate to evaluate ROP changes without further examinations. Secondly, the level of agreement between independent ROP graders were evaluated based on the fundus photographs.

Vision-related quality of life, photoaversion, and optical rehabilitation in achromatopsia.

Significance: We report on photoaversion and patient-reported quality of life in Danish patients with achromatopsia and evaluate the best optical rehabilitation. Our results contribute to the evaluation of outcome measures in therapy trials and aid in providing the best optical rehabilitation for patients with this and clinically similar conditions.

Purpose: This study aimed to investigate the vision-related quality of life, the impact of photoaversion on daily living, and the best optical rehabilitation in a cohort of achromatopsia patients, including testing the hypothesis that red light-attenuating filters are generally preferred.

Long-term visual outcomes and ocular complications in children with Marner's hereditary cataracts operated in the period 1940-2021.

Purpose: To investigate visual development and long-term complications after cataract surgery in childhood.

Methods: This cross-sectional study included patients from a family with Marner's hereditary cataracts who had cataract surgery before 18 years of age. The study was conducted from 1 January 2022 until 31 December 2022.

Infrastructuring precision medicine: Making gene therapies for rare diseases workable in practice.

Long viewed by social scientists as a future imaginary, precision medicine is now materializing in many healthcare systems in the form of new diagnostic practices and novel treatment modalities, such as gene therapies. Based on an ethnographic study of the introduction of the first two clinically available in-vivo gene therapies in the Danish healthcare system, we investigate what it takes to make these therapies workable in practice. Drawing on social science literature on infrastructuring, we describe the many forms of mundane work required to fit these therapies into regulatory frameworks, political processes and daily work practices in the healthcare system.

Temporal changes in incidence, prevalence and causes of childhood visual impairment - Learnings from 45 years with the National Danish Registry of Children with Visual Impairment.

Purpose: The aim of the study was to describe the temporal changes in causes and prevalence of childhood visual impairment in Denmark based on the National Danish Registry of Children with Visual Impairment (NDRCVI).

Methods: Annual reports on the NDRCVI since its establishment in 1979 were reviewed and data on the number of registered children and the causes for registration with a visual impairment were evaluated.

Results: The average annual incidence of childhood visual impairment in Denmark is 2.

Vision-related quality of life in patients with glaucoma before and after trabeculectomy.

Purpose: To determine vision-related quality of life (VR-QoL) and functional and structural parameters associated with VR-QoL in patients with glaucoma before and 12 months after trabeculectomy.

Methods: Fifty-eight patients undergoing trabeculectomy were included. Participants completed the 25-item National Eye Institute Visual Function Questionnaire (VFQ-25) prior to and 12 months after trabeculectomy.

Two-Year Results of 0.01% Atropine Eye Drops and 0.1% Loading Dose for Myopia Progression Reduction in Danish Children: A Placebo-Controlled, Randomized Clinical Trial.

We investigated the two-year safety and efficacy of 0.1% loading dose and 0.01% low-dose atropine eye drops in Danish children for reduction in myopia progression in an investigator-initiated, placebo-controlled, double-masked, randomized clinical trial.

Phenotypic characteristics of Danish patients with achromatopsia.

Purpose: To describe the phenotype of Danish patients with genetically verified achromatopsia (ACHM) with special focus on signs of progression on structural or functional parameters, and possible genotype-phenotype correlations.

Methods: Forty-eight patients were identified, with disease-causing variants in five different genes: CNGA3, CNGB3, GNAT2, PDE6C and PDE6H. Longitudinal evaluation was possible for 11 patients and 27 patients participated in a renewed in-depth phenotyping consisting of visual acuity assessment, optical coherence tomography (OCT), fundus autofluorescence, colour vision evaluation, contrast sensitivity, mesopic microperimetry and full-field electroretinography.

Steroids and/or Non-Steroidal Anti-Inflammatory Drugs as Postoperative Treatment after Trabeculectomy-12-Month Results of a Randomized Controlled Trial.

This prospective randomized controlled trial aimed to compare the efficacy and safety of topical preservative-free diclofenac (DICLO) to dexamethasone (DEX) eyedrops, and their combination (DEX+DICLO) after trabeculectomy. Sixty-nine patients with medically uncontrolled glaucoma were randomized to receive topical postoperative treatment with DICLO ( = 23), DEX ( = 23), or a combination of DEX and DICLO ( = 23). The primary outcome was the intraocular pressure (IOP) 12 months postoperatively.

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for patients with STL.

Long-term risk of glaucoma after cataract surgery in childhood.

Purpose: To examine the long-term risk of glaucoma after cataract surgery in childhood.

Methods: This study took place from January 2022 until December 2022 and included patients from a large family with hereditary childhood cataract who had cataract surgery before 18 years of age. Patients underwent an ophthalmologic examination to determine the presence of glaucoma or ocular hypertension (OHT).

Blindness is decreasing among children born preterm during the last four decades in Denmark.

Purpose: Children born preterm are believed to be at increased risk of visual impairment (VI). The increased survival rate of extremely preterm children may have changed the spectrum of diseases occurring postnatally. The aim of this study was to analyse the prevalence and causes of VI in an ex-preterm Danish population during the last 4 decades.

Does Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?

(1) Background: The aim of the study was to describe refractive development from early childhood to adulthood in Danish patients with albinism and to evaluate the effect of foveal developmental stage on refractive development; (2) Methods: Patients with a clinical diagnosis of ocular or oculocutaneous albinism were invited for a refractive evaluation and comprehensive phenotyping including macular optical coherence tomography (OCT) scans. Foveal hypoplasia was graded based on OCT from 0 (normal) to 4 (absence of any signs of foveal specialization). Medical files were reviewed for historical refractive values in individual patients; (3) Results: Hyperopia (spherical equivalent refraction (SEQ) of ≥+1 Diopter (D)) was common in both children (81.

At-Home Trial of Four Different Head-Mounted Displays in Visual Rehabilitation of People with Stargardt Disease.

Purpose: To examine the potential of different head-mounted displays in the rehabilitation of individuals with visual impairment.

Methods: This prospective explorative study conducted between September 2019 and August 2020 included participants with Stargardt disease with moderate to severe visual impairment and a relatively preserved peripheral visual field. AceSight, eSight 3, IrisVision Live, and Jordy were tested.

[Not Available].

The prevalence of myopia is estimated to be 2.6 billion people worldwide and the percentage of individuals with sight-threatening high myopia (≤ -6 diopters) is increasing. Myopia is primarily caused by excessive axial elongation of the eyeball, and treatment modalities attempt to reduce this progression.

Optic Disc Drusen Prevalence in Patients With Retinitis Pigmentosa: A Cross-Sectional Study.

Background: Studies of patients with retinitis pigmentosa (RP) have reported an increased prevalence of optic disc drusen (ODD) compared with the ODD prevalence in the general population. The diagnostic gold standard method for identifying ODD is enhanced depth imaging optical coherence tomography (EDI-OCT), but this modality has not previously been used systematically for identifying ODD in patients with RP. This study aimed to estimate the prevalence of ODD in patients with RP using EDI-OCT.