Congenital Cataract

Updated: Mar 22, 2016
  • Author: Mounir Bashour, MD, PhD, CM, FRCSC, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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Overview

Background

A cataract is an opacification of the lens. Congenital cataracts usually are diagnosed at birth. If a cataract goes undetected in an infant, permanent visual loss may ensue. Not all cataracts are visually significant. If a lenticular opacity is in the visual axis, it is considered visually significant and may lead to blindness. If the cataract is small, in the anterior portion of the lens, or in the periphery, no visual loss may be present.

Unilateral cataracts are usually isolated sporadic incidents. They can be associated with ocular abnormalities (eg, posterior lenticonus, persistent hyperplastic primary vitreous, anterior segment dysgenesis, posterior pole tumors), trauma, or intrauterine infection, particularly rubella.

Bilateral cataracts are often inherited and associated with other diseases. They require a full metabolic, infectious, systemic, and genetic workup. The common causes are hypoglycemia, trisomy (eg, Down, Edward, and Patau syndromes), myotonic dystrophy, infectious diseases (eg, toxoplasmosis, rubella, cytomegalovirus, and herpes simplex [TORCH]), and prematurity.

See What the Eyes Tell You: 16 Abnormalities of the Lens, a Critical Images slideshow, to help recognize lens abnormalities that are clues to various conditions and diseases.

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Pathophysiology

The lens forms during the invagination of surface ectoderm overlying the optic vesicle. The embryonic nucleus develops by the sixth week of gestation. Surrounding the embryonic nucleus is the fetal nucleus. At birth, the embryonic and fetal nuclei make up most of the lens. Postnatally, cortical lens fibers are laid down from the conversion of anterior lens epithelium into cortical lens fibers.

The Y sutures are an important landmark because they identify the extent of the fetal nucleus. Lens material peripheral to the Y sutures is lens cortex, whereas lens material within and including the Y sutures is nuclear. At the slit lamp, the anterior Y suture is oriented upright, and the posterior Y suture is inverted.

Any insult (eg, infectious, traumatic, metabolic) to the nuclear or lenticular fibers may result in an opacity (cataract) of the clear lenticular media. The location and pattern of this opacification may be used to determine the timing of the insult as well as the etiology.

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Epidemiology

Frequency

United States

Incidence is 1.2-6 cases per 10,000.

International

Incidence is unknown. Although the World Health Organization and other health organizations have made outstanding strides in vaccinations and disease prevention, the rate of congenital cataracts is probably much higher in underdeveloped countries.

Mortality/Morbidity

Visual morbidity may result from deprivation amblyopia, refractive amblyopia, glaucoma (as many as 10% post surgical removal), and retinal detachment.

Metabolic and systemic diseases are found in as many as 60% of bilateral cataracts.

Mental retardation, deafness, kidney disease, heart disease, and other systemic involvement may be part of the presentation.

Age

Congenital cataracts usually are diagnosed in newborns.

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