Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the
            <i>ARR3</i>
            gene

Mazijk, Ralph van; Haarman, Annechien E. G.; Hoefsloot, Lies H.; Polling, Jan Roelof; Tienhoven, Marianne van; Klaver, Caroline C W; Verhoeven, Virginie Jm; Loudon, Sjoukje E.; Thiadens, Alberta A H J; Kievit, Anneke J.A.

doi:10.1002/humu.24327

Cited by 20 publications

(15 citation statements)

References 45 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Three patients had a mutation in ARR3 , encoding a cone specific protein. An extensive description of the families is described elsewhere ( 24 ). Up to now, there were only very few reports on patients with mutations in this gene ( 21 , 25–27 ).…”

Section: Discussionmentioning

confidence: 99%

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Haarman

Thiadens

Tienhoven

et al. 2022

Human Molecular Genetics

View full text Add to dashboard Cite

High myopia (refractive error ≤ −6 diopters (D)) is a heterogeneous condition, and without clear accompanying features it can be difficult to pinpoint a genetic cause. This observational study aimed to evaluate the utility of whole exome sequencing (WES) using an eye disorder gene panel in European patients with high myopia. Patients with high myopia were recruited by ophthalmologists and clinical geneticists. Clinical features were categorized into isolated high myopia, high myopia with other ocular involvement or with systemic involvement. WES was performed and an eye disorder gene panel of ~ 500 genes was evaluated. 113 patients with high myopia (mean (SD) refractive error − 11.8D (5.2) were included. Of these, 53% were children younger than 12 years of age (53%), 13.3% were 12–18 years, and 34% were adults (aged over 18 years). 23 out of 113 patients (20%) received a genetic diagnosis of which 11 patients displayed additional ocular or systemic involvement. Pathogenic variants were identified in retinal dystrophy genes (e.g.GUCY2D, CACNA1F), connective tissue disease genes (e.g. COL18A1, COL2A1), non-syndromic high myopia genes (ARR3), ocular development genes (e.g. PAX6) and other genes (ASPH, CNNM4). In 20% of our high myopic study population WES using an eye gene panel enabled us to diagnose the genetic cause for this disorder. Eye genes known to cause retinal dystrophy, developmental or syndromic disorders can cause high myopia without apparent clinical features of other pathology.

show abstract

Section: Discussionmentioning

confidence: 99%

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Haarman

Thiadens

Tienhoven

et al. 2022

Human Molecular Genetics

View full text Add to dashboard Cite

show abstract

“…The X-linked female limited inheritance pattern seen in ARR3 mutations, with affected female carriers and unaffected male carriers, can make diagnosis challenging. 72 , 73 …”

Section: Etiology Of High Myopia In Childrenmentioning

confidence: 99%

IMI—Management and Investigation of High Myopia in Infants and Young Children

Flitcroft

Ainsworth

Chia

et al. 2023

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

Purpose The purpose of this study was to evaluate the epidemiology, etiology, clinical assessment, investigation, management, and visual consequences of high myopia (≤−6 diopters [D]) in infants and young children. Findings High myopia is rare in pre-school children with a prevalence less than 1%. The etiology of myopia in such children is different than in older children, with a high rate of secondary myopia associated with prematurity or genetic causes. The priority following the diagnosis of high myopia in childhood is to determine whether there is an associated medical diagnosis that may be of greater overall importance to the health of the child through a clinical evaluation that targets the commonest features associated with syndromic forms of myopia. Biometric evaluation (including axial length and corneal curvature) is important to distinguishing axial myopia from refractive myopia associated with abnormal development of the anterior segment. Additional investigation includes ocular imaging, electrophysiological tests, genetic testing, and involvement of pediatricians and clinical geneticists is often warranted. Following investigation, optical correction is essential, but this may be more challenging and complex than in older children. Application of myopia control interventions in this group of children requires a case-by-case approach due to the lack of evidence of efficacy and clinical heterogeneity of high myopia in young children. Conclusions High myopia in infants and young children is a rare condition with a different pattern of etiology to that seen in older children. The clinical management of such children, in terms of investigation, optical correction, and use of myopia control treatments, is a complex and often multidisciplinary process.

show abstract

“…24,25 An important consideration when performing genetic testing is that high myopia may precede other eye pathology occurring in these syndromes, or disguise symptoms thereof. [26][27][28] Our survey made it clear that clinicians need to be educated on the merit of comprehensive phenotyping and genotyping when a Mendelian inheritance is suspected.…”

Section: Myopia Care Of Todaymentioning

confidence: 99%

A view from the clinic – Perspectives from Dutch patients and professionals on high myopia care

Ravenstijn

Bois

Jansen

et al. 2023

Ophthalmic Physiologic Optic

View full text Add to dashboard Cite

To understand and compare perspectives of patients and professionals on current ophthalmologic care for high myopia, and to identify challenges and future opportunities. Methods: Self-reported data were collected through two online questionnaires. Patient perspective was obtained from highly myopic members of a patient organisation based in the Netherlands using a 17-item questionnaire consisting of open and multiple-choice questions regarding personal experience with myopia care. The ophthalmologist perspective was obtained from practising Dutch ophthalmologists with a 12-item questionnaire of multiple-choice questions on workrelated demographics, myopia care in daily practice and need for improvement. The response rate for patients was 27% (n = 136/500) and for ophthalmologists, 24% (n = 169/716). Results: Patients were highly concerned about personal progressive loss of vision (69%) and feared their psychological well-being (82%) in case this would happen. The quality of performance of care provided by ophthalmologists was rated as excellent or satisfactory by 64% of the patients. These ratings for multidisciplinary care and insurance reimbursement were as low as 28% and 18% respectively. The mean concern among ophthalmologists about the rise in high myopia was 6.9 (SEM 0.1) on a 10-point scale. Sixty-nine per cent of the ophthalmologists reported that asymptomatic myopic patients should not be examined regularly at outpatient clinics. Ophthalmologists urged the development of clinical guidelines (74%), but did report (95%) that they informed patients about risk factors and complications.

show abstract

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

Cited by 20 publications

References 45 publications

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

IMI—Management and Investigation of High Myopia in Infants and Young Children

A view from the clinic – Perspectives from Dutch patients and professionals on high myopia care

Contact Info

Product

Resources

About