Congenital Cataract Clinical Presentation

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Congenital Cataract Clinical Presentation

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

History
Congenital cataracts are present at birth but may not be identified until later in life. Prenatal and family history is
helpful.
Some cataracts are static, but some are progressive. This explains why not all congenital cataracts are
identified at birth.
Anterior polar cataract and nuclear cataract are usually static, although they may rarely progress.
Cataracts that typically progress include posterior lenticonus, persistent hyperplastic primary vitreous, lamellar,
sutural, and anterior or posterior subcapsular. They usually have a better prognosis because they only usually
begin to obstruct the vision after the critical period of visual development has passed.
Not all cataracts are visually significant. If a lenticular opacity is in the visual axis, it usually is considered visually
significant and requires removal.
Cataracts in the center of the visual axis that are greater than 3 mm in diameter are generally considered
visually significant. This principle is furthermore correlated with the clinical ophthalmological examination of the
patient.
A study by the Department of Pediatric Ophthalmology of the Wills Eye Hospital concluded that, in terms of the
risk factor for amblyopia, more important than the cataract size is the anisometropia induced by the congenital
anterior lens opacities (CALOs).[1] Patients with CALOs who have anisometropia of 1 diopter (D) or more are
6.5 times more likely to develop amblyopia.[1]

Physical
A lenticular opacity is called a cataract. Not all cataracts are visually significant.
Description of a congenital cataract must include location, color, density, and shape for purposes of
identification.
An irregular red reflex is the hallmark of visual problems. If an irregular red reflex is detected at the initial
screening, this is usually an indication that a congenital cataract might be present and an ophthalmology
consultation is warranted.
Leukocoria or white reflex can be the presenting sign of a cataract. In fact, in a 2008 study by Haider et al, 60%
of patients who presented with leukocoria had congenital cataracts (18% unilateral and 42% bilateral).[2] Other
causes included retinoblastoma (11% unilateral and 7% bilateral), retinal detachment (2.8% unilateral and 1.4%
bilateral), bilateral persistent hyperplastic primary vitreous (4.2%), and unilateral Coats disease (4.2%).[2]
Slit lamp examination of both eyes (dilated pupil) not only may confirm the presence of a cataract but also may
identify the time when the insult occurred in utero and if there is other systemic or metabolic involvement.
Dilated fundus examination is recommended as part of the ocular examination for both unilateral cataract cases
and bilateral cataract cases.

Causes
The most common etiology includes intrauterine infections, metabolic disorders, and genetically transmitted
syndromes. One third of pediatric cataracts are sporadic; they are not associated with any systemic or ocular
diseases. However, they may be spontaneous mutations and may lead to cataract formation in the patient's
offspring. As many as 23% of congenital cataracts are familial. The most frequent mode of transmission is
autosomal dominant with complete penetrance. This type of cataract may appear as a total cataract, polar
cataract, lamellar cataract, or nuclear opacity. All close family members should be examined.
Infectious causes of cataracts include rubella (the most common), rubeola, chicken pox, cytomegalovirus,
herpes simplex, herpes zoster, poliomyelitis, influenza, Epstein-Barr virus, syphilis, and toxoplasmosis.

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
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

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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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