Down syndrome

doi:10.1016/0039-6257(90)90116-D

Survey of Ophthalmology

Volume 34, Issue 5, March–April 1990, Pages 385-398

https://doi.org/10.1016/0039-6257(90)90116-D Get rights and content

Abstract

Down syndrome is the most common chromosome abnormality of man. The isolated occurrence of any one of most of the protean systemic and ocular features of Down syndrome is not specific to the disorder. The associated occurrence of several of these features, however, has distinguished affected individuals as having a distinct entity for nearly 125 years. Recent advances in prenatal diagnosis have allowed the earlier detection, in utero, of chromosomal abnormalities. Although predisposing genetic and environmental influences remain for the most part unknown, advances in molecular biology are leading to a greater understanding of other common disorders that occur with an increased incidence in individuals with Down syndrome; these include Alzheimer's disease, acute childhood leukemia, congenital heart malformations, and immunologic abnormalities. Associated ocular disorders can significantly affect the quality of life of individuals with Down syndrome. As more children with Down syndrome live into adulthood, the ophthalmologist will play an increasing role in allowing them to lead productive and meaningful lives.

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Cited by (78)

In vivo quasi-elastic light scattering detects molecular changes in the lenses of adolescents with Down syndrome
2024, Experimental Eye Research
Down syndrome (DS) is the most common chromosomal disorder in humans. DS is associated with increased prevalence of several ocular sequelae, including characteristic blue-dot cerulean cataract. DS is accompanied by age-dependent accumulation of Alzheimer's disease (AD) amyloid-β (Aβ) peptides and amyloid pathology in the brain and comorbid early-onset Aβ amyloidopathy and colocalizing cataracts in the lens. Quasi-elastic light scattering (QLS) is an established optical technique that noninvasively measures changes in protein size distributions in the human lens in vivo. In this cross-sectional study, lenticular QLS correlation time was decreased in adolescent subjects with DS compared to age-matched control subjects. Clinical QLS was consistent with alterations in relative particle hydrodynamic radius in lenses of adolescents with DS. These correlative results suggest that noninvasive QLS can be used to evaluate molecular changes in the lenses of individuals with DS.
Genetics of Refraction and Myopia
2015, Progress in Molecular Biology and Translational Science
Citation Excerpt :
The vast majority of cases of high hyperopia represent physiologic high hyperopia that is not associated with other ocular or systemic anomalies. However, pathologic high hyperopia may present as a part of a complex of eye or systemic abnormalities, such as nanophthalmos, microphthalmia, anterior segment malformations, Leber congenital amaurosis, Down's syndrome, and fragile X syndrome.5–9 Pedigree analyses have demonstrated inheritance of hyperopia as autosomal-dominant and autosomal-recessive traits.
Both genetic and environmental factors play roles in the development of refractive errors. Identification of genes involved in refractive errors may help in elucidating the underlying molecular mechanism related to both genetic defects and environmental pressure. Recent development of techniques for genome wide analysis provides unique opportunity in dissecting the genetic basis related to refractive errors. This chapter tries to give a brief overview on the recent progress of genetic study of refractive errors, especially myopia.
Evaluation and treatment of failed nasolacrimal duct probing in Down syndrome
2014, Journal of AAPOS
To elucidate the mechanisms underlying failed nasolacrimal duct (NLD) probing in children with Down syndrome (DS) utilizing computed tomography (CT) scans and histopathology of nasal mucosa.
The medical records of children with DS and NLD obstruction confirmed by dye disappearance testing who failed NLD surgery were retrospectively reviewed. Dimensions of the bony NLD and presence of postductal mucosal obstruction were obtained from CT scans. Histopathology of the nasal mucosa was performed in a subset of patients. Subsequent treatment was topical or intranasal corticosteroids or submucosal corticosteroids alone or combined with surgical reduction of the inferior turbinate.
A total of 9 subjects (age range, 8-10 years) and 43 age-matched controls were included. Both groups demonstrated a logarithmic increase in NLD and maxilla dimensions with increasing age; however, the transverse diameter of the NLD was consistently 1-2 mm smaller in children with DS ≤5 years age (n = 4) than in age-matched controls. The transverse diameter in DS children overlapped that of controls after 5 years age. Histopathology revealed abnormal lymphoplasmacytic inflammation of the mucosa in 4 of 5 biopsies of DS patients, consistent with chronic infection, allergic disease, or immune dysregulation. The postductal obstruction was successfully treated with topical or intranasal corticosteroids or by surgical reduction of the inferior turbinate submucosa with corticosteroid injection.
Before 5 years of age, NLD obstruction in children with DS was associated with reduced dimensions of the NLD and hypertrophic nasal mucosa. In DS children older than 5 years of age, the dimensions of the NLD are normal and postductal obstruction due to hypertrophic nasal mucosa should be considered.
Ophthalmic manifestations of mosaic Down syndrome
2011, Journal of AAPOS
Citation Excerpt :
Clinically significant ocular abnormalities were found in 7 of 12 subjects in the 0-5 age range and 5 of 5 subjects in the 18-35 age range. The spectrum of eye diseases associated with complete trisomy-21 DS has been widely reported in the ophthalmic and genetics literature.7,13-17 In contrast, ocular disorders have not been well documented in patients with mosaic DS, most likely because of the relative rarity of this chromosomal anomaly.
The cognitive and physical stigmata of mosaic Down syndrome (DS) are often considered to be less severe than complete trisomy-21 DS. In contrast to complete trisomy-21 DS, the ophthalmic manifestations in mosaic DS have rarely been reported. The aim of the present study is to report clinically significant ophthalmic abnormalities in a cohort of individuals with mosaic DS.
A prospective cross-sectional observational case series was designed to evaluate ophthalmic manifestations of mosaic DS. Individuals with mosaic DS were recruited and examined at the biennial meeting of the International Mosaic Down Syndrome Association. A medical, surgical, and ocular history was obtained. Each subject received a complete eye examination on site, including assessment of visual acuity, alignment, motility, sensory function, accommodation, anterior segment, fundus, and cycloplegic refraction.
Seventeen individuals with mosaic DS (mean age, 9 years; range, 6 months to 32 years) underwent eye examinations. Clinically significant refractive errors were present in 41% of the subjects, accommodative insufficiency in 59%, strabismus in 35%, nystagmus in 6%, and cataract in 6%. Ten individuals completed optotype visual acuity testing. Mean LogMAR acuity of the better eye of each subject was 0.2 (20/32 equivalent).
Clinically significant ophthalmic disorders are common among children and young adults with mosaic DS. Our findings support regular periodic eye examinations for these individuals.
Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China
2024, BMC Pregnancy and Childbirth
Update from a cohort study for birth defects in Hunan Province, China, 2010–2020
2023, Scientific Reports

View all citing articles on Scopus

^☆: This work was supported in part by the National Institutes of Health, National Eye Institute Training Grant EY0703702 and an unrestricted grant from Research to Prevent Blindness.

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Review in medicineDown syndrome☆

Abstract

J Ped

Lancet

Br Heart J

Lancet

Lancet

Br J Ophthalmol

Arch Ophthalmol

Acta Paediatr Scand

J Pediatr

Ann NY Acad Sci

Ann Ophthalmol

Am J Ophthalmol

J Pediatr Ophthalmol

Am J Ophthalmol

Pediatrics

Am Orthop J

Birth Defects

The fundus in mongolism

Arch Ophthalmol

Chromosome-induced ocular disease

Keratocone aigu chex la mongoloide

Bull Soc Belg Ophthal

Uncommon ocular changes in Down's syndrome (mongolism)

J Pediatr Ophthalmol

Temporal changes in the utilization of amniocentesis for prenatal diagnosis by women of advanced maternal age, 1976–1983

Prenat Diag

Etiology of congenital glaucoma. Genetic and extragenetic factors

Ophthalmic Paediatr Genet

A case of Down's syndrome complicated by retinoblastoma and celiac disease

Pediatric

Atropine in mongolism

Lancet

Congenital eversion of the eyelids in a case of Down's Syndrome

Ophthalmologica

De l'idiotie mongolienne

Arch Neuri Paris

Chorionic villus sampling: a safe and reliable alternative in fetal diagnosis?

Res Reprod

Chorionic villus sampling: general methodological and clinical approach

Mongolism

Mongolism

Br J Child Dis

Discussion of paper by Shuttleworth GE: Mongolian imbecility

Br Med J

Alopecia areata and Down's syndrome

Arch Dermatol

Premature Mortality due to congenital anormalies-United States

JAMA

Table V. Estimated years of potential life lost (YPLL) before age 65 and cause specific mortality, by cause of death-United States, 1986

MMWR

21 trisomy/normal mosaicism in an intelligent child mongoloid

Lancet

Pathology of cataracts in mongoloid idiocy: A new concept of the pathogenesis of cataracts of the coronary-cerulean type

Doc Ophthalmol

Le Mongolisme infantile

Arch Med Enf

Mongolism (Down's syndrome) and keratoconus

Br J Ophthalmol

Thyroid function in young children with Down syndrome

Am J Dis Child

Alzheimer's disease in Down's syndrome visual retention deficits

Cortex

Congenital corneal opacities in a patient with Rieger's anomaly and Down's syndrome

Br J Ophthalmol

Decreased levels of amniotic fluid alpha-fetoprotein associated with Down's syndrome

Am J Obstet Gynecol

Review in medicine
Down syndrome☆