Related Experiment Video
Updated: Aug 7, 2026
05:15
Grossing of Non-neoplastic Globes, Including Fetal Eyes
Published on: May 30, 2025
Clinical ocular abnormalities in infants with trisomy 13
1Department of Ophthalmology and Visual Sciences, St Louis Children's Hospital, Washington University School of Medicine, MO 63110, USA. lueder@vision.wustl.edu
American Journal of Ophthalmology
|June 13, 2006
Summary
Infants with trisomy 13 often show unique eye abnormalities, including inferonasal iris colobomas and cataracts. One case also presented Coats disease, highlighting the need for chromosomal analysis in infants with these ocular findings.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Previous studies on trisomy 13 ocular abnormalities focused on pathology, lacking clinical details.
- This report details clinical ocular findings in four infants diagnosed with trisomy 13.
Observation:
- All four infants presented with inferonasal iris colobomas.
- Unilateral inferonasal cataracts, mainly affecting the posterior lens, were observed in all cases.
- Two infants had cataracts with associated pigmented tissue.
Findings:
- Cataract surgery in one infant yielded good results.
- This infant also developed exudative retinal detachment and peripheral telangiectatic vessels, consistent with Coats disease, a novel association with trisomy 13.
- The cataracts in trisomy 13 infants exhibit distinct clinical features compared to other infant cataracts.
Implications:
- The specific clinical presentation of inferonasal iris colobomas and sectoral cataracts warrants chromosomal analysis for trisomy 13 in infants with dysmorphic features.
- Recognizing these ocular signs can aid in earlier diagnosis and management of trisomy 13.
- The association of Coats disease with trisomy 13 expands the known spectrum of ocular manifestations for this genetic disorder.
Related Concept Videos
01:22Photoreceptors and Visual Pathways
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...
01:49Meiosis I
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
01:16Focusing of Light in the Eye
Light rays enter the eye through the cornea, a transparent dome-shaped tissue that is the eye's outermost layer. The cornea bends or refracts, light rays traveling to the pupil. The shape of the cornea determines how much of the light is bent and whether the image will be focused correctly on the retina at the back of the eye. Once the light has passed through both refraction layers, it converges into a single focal point onto a small area. This is where photoreceptors start transforming...
01:25Glaucoma: Overview
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...