Congenital Cataract
- Author: Mounir Bashour, MD, CM, FRCS(C), PhD, FACS; Chief Editor: Hampton Roy Sr, MD more...
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.
Ceyhan D, Schnall BM, Breckenridge A, et al. Risk factors for amblyopia in congenital anterior lens opacities. J AAPOS. Dec 2005;9(6):537-41. [Medline].
Haider S, Qureshi W, Ali A. Leukocoria in children. J Pediatr Ophthalmol Strabismus. May-Jun 2008;45(3):179-80. [Medline].
Koc F, Kargi S, Biglan AW, et al. The aetiology in paediatric aphakic glaucoma. Eye. Dec 2006;20(12):1360-5. [Medline].
Birch EE, Cheng C, Stager DR Jr, et al. Visual acuity development after the implantation of unilateral intraocular lenses in infants and young children. J AAPOS. Dec 2005;9(6):527-32. [Medline].
Sidorenko EI, Shirshov MV, Korkh NL. [Preliminary results of primary implantation of flexible intraocular lenses in infants under 1 year of age]. Vestn Oftalmol. Sep-Oct 2005;121(5):37-8. [Medline].
Capozzi P, Morini C, Piga S, et al. Corneal Curvature and Axial Length values in children with Congenital/Infantile Cataract in the first 42 Months of life. Invest Ophthalmol Vis Sci. May 23 2008;[Medline].
Hoevenaars NE, Polling JR, Wolfs RC. Prediction error and myopic shift after intraocular lens implantation in paediatric cataract patients. Br J Ophthalmol. Aug 2011;95(8):1082-5. [Medline].
Plager DA, Lynn MJ, Buckley EG, Wilson ME, Lambert SR. Complications, adverse events, and additional intraocular surgery 1 year after cataract surgery in the infant aphakia treatment study. Ophthalmology. Dec 2011;118(12):2330-4. [Medline]. [Full Text].
Goggin M, Moore S, Esterman A. Outcome of toric intraocular lens implantation after adjusting for anterior chamber depth and intraocular lens sphere equivalent power effects. Arch Ophthalmol. Aug 2011;129(8):998-1003. [Medline].
Biglan AW, Cheng KP, Davis JS, et al. Secondary intraocular lens implantation after cataract surgery in children. Am J Ophthalmol. Feb 1997;123(2):224-34. [Medline].
Brady KM, Atkinson CS, Kilty LA, e al. Cataract surgery and intraocular lens implantation in children. Am J Ophthalmol. Jul 1995;120(1):1-9. [Medline].
Buckley E, Lambert SR, Wilson ME. IOLs in the first year of life. J Pediatr Ophthalmol Strabismus. Sep-Oct 1999;36(5):281-6. [Medline].
Cassidy L, Taylor D. Congenital cataract and multisystem disorders. Eye. Jun 1999;13 (Pt 3b):464-73. [Medline].
Cheng KP, Hiles DA, Biglan AW, et al. Management of posterior lenticonus. J Pediatr Ophthalmol Strabismus. May-Jun 1991;28(3):143-9; discussion 150. [Medline].
Mori M, Keech RV, Scott WE. Glaucoma and ocular hypertension in pediatric patients with cataracts. J AAPOS. Jun 1997;1(2):98-101. [Medline].

