Genetic causes of optic nerve hypoplasia

Yin, Jiani C.; Lewis, Richard A.

doi:10.1136/jmedgenet-2017-104626

Cited by 32 publications

(26 citation statements)

References 93 publications

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“…In patients with optic nerve hypoplasia (ONH), neuroimaging also shows abnormalities in ventricles or whiteor gray-matter development, septooptic dysplasia, hydrocephalus, and corpus callosum abnormalities. [23][24][25] This last feature was also documented in our patient in addition to a posterior lobe of the pituitary gland ectopia. Indeed, it has been described that incidence of neurologic abnormalities is greater in patients with bilateral optic nerve hypoplasia (65%) than patients with unilateral ONH.…”

Section: Discussionsupporting

confidence: 81%

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

et al. 2020

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Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.

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Section: Discussionsupporting

confidence: 81%

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

et al. 2020

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“…Parr et al reviewed clinical records for 83 children, identifying a group of children with optic nerve hypoplasia or septo‐optic dysplasia, and found that 31 per cent also had a clinical diagnosis of autism. This is supported by Chen et al who note that advances in genotyping will reveal that a number of apparently idiopathic cases of optic nerve hypoplasia likely have underlying genetic causes.…”

Section: Retina Function and Structurementioning

confidence: 84%

Vision in children with autism spectrum disorder: a critical review

Little

2018

Clinical and Experimental Optometry

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Autism spectrum disorder (ASD) is a common neurodevelopmental condition with approximately 1-2 per cent prevalence in the population. The condition has lifelong effects for the individual and family, and early intervention and management helps maximise quality of life and outcomes. Many studies of vision in ASD have attempted to link the behavioural and sensory deficits in ASD with underlying visual processing. From this work, it is clear that individuals with ASD 'see' and process the world differently, but there remain gaps in our understanding. This review will summarise our current knowledge of key aspects of visual functions and the optometric profile of ASD. This includes findings regarding visual acuity and contrast sensitivity, refractive error, eye movements, binocular vision, near visual functions and retinal structure in ASD. From this, a pattern of knowledge emerges for children with ASD: we should expect normal visual acuity; there will likely be atypical eye movements and susceptibility for subtle visuo-motor deficits, there is an increased prevalence of strabismus; an increased likelihood of astigmatism and possibly other refractive errors; attention, crowding and task complexity will likely be problematic; and retinal structure and function may be compromised. Bringing this together, these findings highlight that further work is necessary, not only to understand how higher-level functions link to behaviours, but also to ensure there is a sound understanding of the building-blocks of vision to fully grasp the profile of visual processing as a whole in ASD. This review will give a translational viewpoint for clinicians, and underline the benefits of comprehensive vision care in ASD.

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“…It is reasonable to assume that genetic mutations in these parts may contribute to the broad phenotype and reduced penetrance, and this should be further studied. Chen et al have published an excellent review of genetic causes of ONH which highlighted 16 genes [12]. To this list we suggest to add COL4A1 and COL4A2, which seem to be important genetic contributors to ONH.…”

Section: Discussionmentioning

confidence: 99%

“…Although most cases of ONH are sporadic, there are also familial cases suggesting a genetic aetiology [9,10]. HESX1 was the first gene to be associated with ONH [10], but only few cases have been reported [11,12]. Due to the increasing rate of genetic testing of affected individuals, several developmental genes have been proposed as candidate genes for ONH [12,13].…”

Section: Introductionmentioning

confidence: 99%

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

et al. 2020

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Optic nerve hypoplasia (ONH) is a congenital malformation with a reduced number of retinal ganglion cell axons in a thin optic nerve. It is a common cause of visual impairment in children and ONH is associated with neurodevelopmental disorders, pituitary hormone deficiencies, and brain malformations. In most cases, the aetiology is unknown, but both environmental factors and genetic causes have been described. This study aimed to identify genetic variants underlying ONH in a well-characterised cohort of individuals with ONH. We performed array comparative genomic hybridization and whole genome sequencing in 29 individuals with ONH. Rare variants were verified by Sanger sequencing and inheritance was assessed in parental samples. We identified 11 rare single nucleotide variants (SNVs) in ten individuals, including a homozygous variant in KIF7 (previously associated with Joubert syndrome), a heterozygous de novo variant in COL4A1 (previously described in an individual with porencephaly), and a homozygous variant in COL4A2. In addition, one individual harboured a heterozygous variant in OPA1 and a heterozygous variant in COL4A1, both were inherited and assessed as variants of unknown clinical significance. Finally, a heterozygous deletion of 341 kb involving exons 7-18 of SOX5 (associated with Lamb-Schaffer syndrome) was identified in one individual. The overall diagnostic yield of pathogenic or likely pathogenic variants in individuals with ONH using whole genome sequencing was 4/ 29 (14%). Our results show that there is a genetic heterogeneity in ONH and indicate that genetic causes of ONH are not rare. We conclude that genetic testing is valuable in a substantial proportion of the individuals with ONH, especially in cases with non-isolated ONH.

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Genetic causes of optic nerve hypoplasia

Cited by 32 publications

References 93 publications

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

Vision in children with autism spectrum disorder: a critical review

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

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