IMI – Myopia Genetics Report

Tedja, Milly S.; Haarman, Annechien E. G.; Meester-Smoor, Magda A.; Kaprio, Jaakko; Mackey, David A.; Guggenheim, Jeremy A.; Hammond, Christopher J.; Verhoeven, Virginie Jm; Klaver, Caroline C W

doi:10.1167/iovs.18-25965

Cited by 197 publications

(153 citation statements)

References 153 publications

(181 reference statements)

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“…Myopia is a complex disease with a multi-factorial etiology. Many experimental and clinical studies have shown that myopia development results from the interplay between genetic and environmental factors [15,16]. Numerous studies demonstrate a higher rate of myopia in children with myopic parents suggesting that genetic factors are clearly involved in myopia development.…”

Section: Discussionmentioning

confidence: 99%

Endothelin-1 Serum Concentration is Lower in Children and Adolescents with High Myopia, a Preliminary Study

Powierza

Żelazowska-Rutkowska

Sawicka-Powierza

et al. 2020

JCM

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The aim of this study is to evaluate the levels of enothelin-1 (ET-1) in children and adolescents with high myopia and its association with the axial length of the eye and the presence of myopic retinal degeneration. The cross-sectional study was carried out in 57 patients with high myopia and 29 control subjects. Serum concentrations of ET-1 were measured using enzyme-linked immunosorbent assay (ELISA) kit. A significantly lower concentration of ET-1 in highly myopic patients compared to controls was found (1.47 (0.91; 1.87) vs. 1.94 (1.1; 2.69) pg/mL, p = 0.005). In patients with high myopia, a weak negative correlation between ET-1 concentration and the longest axial length out of the two eyes was found (r = −0.255, p = 0.0558). Further analysis revealed statistically significant differences in ET-1 concentration between patients with the axial length of the eye > 26 and ≤ 26 mm (p < 0.041) and patients with the axial length of the eye > 26 mm and controls (p < 0.001). ET-1 expression is disturbed in highly myopic children and adolescents. Lower ET-1 concentration in patients with the axial length of the eye > 26 mm may co-occur with high myopia and should be considered a risk factor in the pathophysiology of high myopia progression.

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Section: Discussionmentioning

confidence: 99%

Endothelin-1 Serum Concentration is Lower in Children and Adolescents with High Myopia, a Preliminary Study

Powierza

Żelazowska-Rutkowska

Sawicka-Powierza

et al. 2020

JCM

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“…Today, the general pathomechanism of refractive error development is assumed to be based on a retina-tosclera signalling cascade guided locally by light stimuli in the retina (7). All retinal cell types seem to participate in this retina-speci c signal transduction and derailment of retinal cell physiology and light processing are the key mechanisms (3). However, only recent advances allowed for deeper insight into the genetic background of these processes.…”

Section: Introductionmentioning

confidence: 99%

Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

Széll

Fehér

Maróti

et al. 2020

Preprint

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Background: Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesisResults: We found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation. Conclusions: This is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.

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“…To minimize evaluation bias and help with data interpretation, several indicators related to changes in refractive error and myopia progression will also be measured, including AL, corneal curvature, peripheral refraction, parental myopia status, environmental influences, and education insensitivity. In addition, the self-report questionnaire will be used to evaluate compliance and wearing experience [23].…”

Section: Principle Of Outcome Selectionmentioning

confidence: 99%

Evaluating the myopia progression control efficacy of defocus incorporated multiple segments (DIMS) lenses and Apollo progressive addition spectacle lenses (PALs) in 6- to 12-year-old children: study protocol for a prospective, multicenter, randomized controlled trial

Wang

et al. 2020

Trials

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Background: Myopia is increasing in prevalence and is currently recognized as a significant public health issue worldwide, particularly in China. Once myopia develops, appropriate clinical interventions need to be prescribed to slow its progression. Currently, several publications indicate that myopic defocus (MD) retards eye growth and myopia progression. However, no clinical trials have compared the outcomes of different MD spectacle lenses in the same observational group, especially in mainland China. The aim of the present study is to compare the myopia control efficiency of two different MD spectacle lenses: defocus incorporated multiple segments (DIMS) lenses and Apollo progressive addition lenses (PALs). Methods: The trial is designed as a 3-year, prospective, randomized, multicenter clinical trial of schoolchildren treated with DIMS lenses and PALs. A total of 600 Chinese primary school children aged 6-12 years will be recruited, and each group is intended to include 300 subjects. The inclusion criteria are myopia between − 1.00 and − 5.00 diopters and astigmatism ≤ 1.50 diopters. The follow-up time points will be 1 month (m), 3 m, 6 m, 12 m, 18 m, 24 m, 30 m, and 36 m. The primary outcome will be determined by the difference between the two groups in cycloplegic spherical equivalent refraction between baseline and the last follow-up visit. The secondary outcome is the axial length, and the exploratory outcomes include ocular biometric measures, peripheral refraction, binocular vision, accommodation, compliance, and the results of questionnaires related to wearing experiences.

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IMI – Myopia Genetics Report

Cited by 197 publications

References 153 publications

Endothelin-1 Serum Concentration is Lower in Children and Adolescents with High Myopia, a Preliminary Study

Endothelin-1 Serum Concentration is Lower in Children and Adolescents with High Myopia, a Preliminary Study

Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

Evaluating the myopia progression control efficacy of defocus incorporated multiple segments (DIMS) lenses and Apollo progressive addition spectacle lenses (PALs) in 6- to 12-year-old children: study protocol for a prospective, multicenter, randomized controlled trial

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