The Ophthalmic Manifestations of Down Syndrome

Sun, Emily; Kraus, Courtney L.

doi:10.3390/children10020341

Cited by 6 publications

(1 citation statement)

References 64 publications

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“…They can impact not only eye development but also the development and functioning of other organs and systems. For example, features like glaucoma, keratopathy, nystagmus, amblyopia, as well as hearing loss, growth deficiency, and central nervous system involvement can be characteristics of both conditions, potentially exacerbating each other [26][27][28]. Despite the presence of all these features in our patient, her condition is assessed as moderately severe.…”

Section: Discussionmentioning

confidence: 78%

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

Vasilyeva,

Sukhanova,

Marakhonov

et al. 2023

IJMS

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This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient’s phenotype. The investigation involved comprehensive pediatric and ophthalmological examinations alongside karyotyping and Sanger sequencing of the PAX6 gene. The patient exhibited distinctive features associated with both congenital aniridia and Down syndrome, suggesting a potential exacerbation of their effects. Cytogenetic and molecular genetic analysis revealed the presence of trisomy 21 and a known pathogenic nonsense variant in exon 6 of the PAX6 gene (c.282C>A, p.(Cys94*)) corresponding to the paired domain of the protein. The observation of these two hereditary anomalies offers valuable insights into the molecular pathogenetic mechanisms underlying each condition. Additionally, it provides a basis for a more nuanced prognosis of the complex disease course in this patient. This case underscores the importance of considering interactions between different genetic disorders in clinical assessments and treatment planning.

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Section: Discussionmentioning

confidence: 78%

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

Vasilyeva,

Sukhanova,

Marakhonov

et al. 2023

IJMS

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Prevalence and diversity of retinal disease in adults with Down syndrome

Foster,

Chu,

Shaia

et al. 2024

Eye

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Prevalence and etiology of strabismus in Down syndrome: A systematic review and meta-analysis with a focus on ethnic differences in the esotropia/exotropia ratio

von Bartheld,

Chand,

Wang

2024

Preprint

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Purpose. We sought to determine the prevalence of strabismus and the esotropia/exotropia ratio in Down syndrome. Wide ranges of an increased strabismus prevalence have been reported and it is unclear by how much esotropia exceeds exotropia in people with Down syndrome. Methods. We compiled in a systematic review and meta-analysis the results of over 100 studies that report the strabismus prevalence and ratio of esotropia/exotropia in cohorts of Down syndrome. We calculated the pooled global prevalence and established the geographical distribution of the strabismus prevalence and the esotropia/exotropia ratio. Results. The ethnically-adjusted global prevalence of strabismus in Down syndrome is 30.2%. In subjects 15 years and older, the global prevalence is 53.2%, and the lifetime prevalence is 51.0%. In populations which normally have more esotropia than exotropia (e.g., Caucasians), Down syndrome subjects have a further increased bias towards esotropia. In populations which normally have more exotropia (e.g., West Africans, Asians and Hispanics), Down syndrome subjects have a significantly lower esotropia/exotropia ratio (3.21) than reported in Caucasians with Down syndrome (9.98). Conclusion. Worldwide, about 1.81 million people with Down syndrome have strabismus: 1.42 million of them have esotropia, and 0.37 million have exotropia. Differences in the esotropia/exotropia ratio between ethnicities point to the orbital anatomy as a major contributing factor to the etiology of strabismus in Down syndrome. The narrow-set eyes (reduced orbital width) in Down syndrome favor esotropia over exotropia, especially in Caucasians, thus explaining why Down syndrome patients from different ethnicities have different prevalences of esotropia and exotropia.

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The Ophthalmic Manifestations of Down Syndrome

Cited by 6 publications

References 64 publications

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

Prevalence and diversity of retinal disease in adults with Down syndrome

Prevalence and etiology of strabismus in Down syndrome: A systematic review and meta-analysis with a focus on ethnic differences in the esotropia/exotropia ratio

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