Congenital Cataract

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Congenital Cataract
Author: Mounir Bashour, MD, CM, FRCS(C), PhD, FACS; Chief Editor: Hampton Roy Sr, MD more...
Updated: Mar 5, 2014

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.

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.

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.

Contributor Information and Disclosures

Author
Mounir Bashour, MD, CM, FRCS(C), PhD, FACS Assistant Professor of Ophthalmology, McGill University;
Clinical Assistant Professor of Ophthalmology, Sherbrooke University; Medical Director, Cornea Laser and Lasik
MD
Mounir Bashour, MD, CM, FRCS(C), PhD, FACS is a member of the following medical societies: American
Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American College
of International Physicians, American College of Surgeons, American Medical Association, American Society of
Cataract and Refractive Surgery, American Society of Mechanical Engineers, American Society of Ophthalmic
Plastic and Reconstructive Surgery, Biomedical Engineering Society, Canadian Medical Association, Canadian
Ophthalmological Society, Contact Lens Association of Ophthalmologists, International College of Surgeons US
Section, Ontario Medical Association, Quebec Medical Association, and Royal College of Physicians and Surgeons
of Canada

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Disclosure: Nothing to disclose.

Coauthor(s)
Johanne Menassa, MD Staff Physician, Department of Ophthalmology, University of Laval Hospital, Quebec City
Disclosure: Nothing to disclose.
C Corina Gerontis, MD Consulting Staff, Departments of Pediatrics and Ophthalmology, Schneider Children's
Hospital/Long Island Jewish Medical Center
C Corina Gerontis, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of
Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and American Medical
Association
Disclosure: Nothing to disclose.
Specialty Editor Board
Richard W Allinson, MD Associate Professor, Department of Ophthalmology, Texas A&M University Health
Science Center; Senior Staff Ophthalmologist, Scott and White Clinic
Richard W Allinson, MD, is a member of the following medical societies: American Academy of Ophthalmology,
American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.
Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein
Eye Institute, University of California, Los Angeles, David Geffen School of Medicine
Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology,
American Glaucoma Society, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.
J James Rowsey, MD Former Director of Corneal Services, St Luke's Cataract and Laser Institute
J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology,
American Association for the Advancement of Science, American Medical Association, Association for Research in
Vision and Ophthalmology, Florida Medical Association, Pan-American Association of Ophthalmology, Sigma Xi,
and Southern Medical Association
Disclosure: Nothing to disclose.
Lance L Brown, OD, MD Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye
Center, Joplin, Missouri
Disclosure: Nothing to disclose.
Chief Editor
Hampton Roy Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for
Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology,
American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

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