Congenital aniridia: clinical profile of children seen at the University College Hospital, Ibadan, South-West Nigeria

Ugalahi, Mary Ogbenyi; Ibukun, Folahan Adesola; Olusanya, Bolutife; Baiyeroju, Aderonke Mojisola

doi:10.1177/25158414211019513

Cited by 4 publications

(8 citation statements)

References 24 publications

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“…AAK is age-dependent and can occur as early as 2 years of age, and is probably the second most common clinical feature following foveal hypoplasia with a prevalence reaching up to 90%. [ 19 21 29 30 31 ] The affected individuals experience chronic irritation and photophobia apart from the visual loss due to AAK. Occasionally, central corneal opacities, which unlike AAK are present since birth, may be seen in children with aniridia.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…They are reported to be seen in 40%–82% of aniridia patients, and the common morphological types are posterior polar, posterior subcapsular, and total cataract. [ 19 21 29 30 ] Other associated lens abnormalities that have been reported include lens subluxation, microspherophakia, lens coloboma, and posterior lenticonus. Cataracts may develop at any age and are usually progressive.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…Nystagmus often accompanies the retinal pathology and is seen in 55%–73% of cases. [ 21 29 30 ] Whenever present, it contributes toward visual morbidity. The most common type of refractive error noted is myopia.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…The most common type of refractive error noted is myopia. [ 30 ] A study where the authors followed up children with aniridia for 3 years noted a myopic shift in 67%, a hyperopic shift in 33%, and an overall increase in astigmatism in 70%. [ 29 ] Other rare clinical manifestations include meibomian gland dysfunction and blepharoptosis.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…[ 3 ] Mutations in the PAX6 gene may fall in one of the following categories: splice site mutations, frameshift mutations, nonsense mutations, insertions and deletions, and introducing premature termination codons (PTC) resulting in haploinsufficiency. [ 5 30 75 ] This phenomenon in aniridia phenotype can be attributed to degraded abnormal mRNA being produced by mutated codons as opposed to prematurely truncated short proteins by a process called nonsense-mediated mRNA decay. [ 74 ]…”

Section: Molecular Basis Of Aniridiamentioning

confidence: 99%

See 4 more Smart Citations

Clinical and molecular aspects of congenital aniridia – A review of current concepts

Tibrewal¹,

Ratna²,

Gour³

et al. 2022

Indian Journal of Ophthalmology

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Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-onset cataract, glaucoma, and keratopathy. The latter three are reasons for further visual compromise in such patients. This entity is often due to mutations in the PAX6 (Paired box protein Pax-6) gene. Recently, aniridia-like phenotypes have been reported due to non- PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44 , and CYP1B1 as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis. In this review, we describe the various clinical features of classic aniridia, the comorbidities and their management, the mutation spectrum of the genes involved, genotype-phenotype correlation of PAX6 and non- PAX6 mutations, and the genetic testing plan. The various systemic associations and their implications in screening and genetic testing have been discussed. Finally, the future course of aniridia treatment in the form of drugs (such as ataluren) and targeted gene therapy has been discussed.

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Section: Clinical Featuresmentioning

confidence: 99%

Section: Clinical Featuresmentioning

confidence: 99%

Section: Clinical Featuresmentioning

confidence: 99%

Section: Clinical Featuresmentioning

confidence: 99%

Section: Molecular Basis Of Aniridiamentioning

confidence: 99%

See 3 more Smart Citations

Clinical and molecular aspects of congenital aniridia – A review of current concepts

Tibrewal¹,

Ratna²,

Gour³

et al. 2022

Indian Journal of Ophthalmology

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Psychoneurological Disorders in Children with Congenital Aniridia and <i>PAX6</i>-Associated Syndromes

Kupriyanova,

Karkashadze,

Zhurkova

et al. 2023

Vopr. sovr. pediatr.

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Congenital aniridia manifests with total or partial absence of the iris. The association of the disease with the PAX6 gene has been proven. Changes in the PAX6 structure lead to intrauterine pathology, visual organ malformation, malformation of master regulator proteins of organogenesis affecting various cells’ differentiation (central nervous system cells included). Such disorders result into the development of PAX6-associated syndromes with various brain malformations, neurological disorders, and systemic pathology (thyroid pathology, Wilms tumor, glucose intolerance). Isolated congenital aniridia is also accompanied by psychoneurological disorders. It can be associated with brain structures’ disorders during embryogenesis and with impact of external stress factors on the child (frequent medical checkup, surgical treatments). The psychoneurological disorders’ pathogenesis as well as congenital aniridia’s genetic mechanisms remain unclear. Thus, it is crucial to review new relevant data within the context of previously obtained information to gather full picture of the clinical signs of the disease and to improve the management of children with congenital aniridia.

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A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family

Lin,

Li,

Pan

et al. 2024

Int J Ophthalmol

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AIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia. METHODS: Eleven family members with and without atypical aniridia were recruited. All family members underwent comprehensive ophthalmic examinations. A combination of whole exome sequencing (WES) and direct Sanger sequencing were performed to uncover the causative mutation. RESULTS: Among the 11 family members, 8 were clinically diagnosed with congenital aniridia (atypical aniridia phenotype). A rare heterozygous mutation c.622C>T (p.Arg208Trp) in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects. CONCLUSION: A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia. This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia, which may also contribute to genetic counselling and family planning.

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Congenital aniridia: clinical profile of children seen at the University College Hospital, Ibadan, South-West Nigeria

Cited by 4 publications

References 24 publications

Clinical and molecular aspects of congenital aniridia – A review of current concepts

Clinical and molecular aspects of congenital aniridia – A review of current concepts

Psychoneurological Disorders in Children with Congenital Aniridia and <i>PAX6</i>-Associated Syndromes

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family

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