Congenital cataract, defined as opacification of the lens, is a significant eye disease that may result in childhood blindness if not treated early and promptly [1]. The leading cause of this condition is a genetic mutation which accounts for 25% of cases and is transmitted in an autosomal dominant pattern [2]. Congenital cataract can appear as part of trisomies 21 and 18 or metabolic disorders such as galactosemia, Wilson's disease, hypocalcemia, etc [2] [3]. This eye disease may also develop as a result of a congenital infection syndrome. Diseases such toxoplasmosis, rubella, cytomegalovirus (CMV), and herpes simplex infections (known as the TORCH) could cause damage to the eyes, brain, limbs, and possible death [4] [5]. Other intrauterine infectious causes include Treponema pallidum and varicella zoster virus (VZV) [5]. It is of utmost importance to detect this disease at birth in order to ensure prompt referral to ophthalmology and adequate treatment for prevention of blindness.

The clinical presentation in neonates includes the absence of a red reflex [2]. Additionally, these infants exhibit nystagmus, unawareness of their surroundings and fail to fix and follow [2]. Note that cataract may affect one or both eyes.

Infants with metabolic or systemic disorders will likely present with other clinical features such as renal and cardiac diseases, deafness, mental retardation, and so forth.

Physical exam

Screening for congenital cataracts is performed easily with the red reflex examination, which is highly recommended for all newborns [6] [7]. This test also assesses for other ocular pathologies as well [8].

During the newborn ocular screen, white reflex (also called leukocoria) is indicative of cataracts [9]. This is followed by further types of examination such as the slit lamp and dilated fundus.

Exam findings in patients with metabolic or systemic diseases will reflect related clinical syndromes.

• Juvenile Cataract

  Nine other families have been previously reported with dominant congenital/juvenile cataracts and mutations in EPHA2. [ncbi.nlm.nih.gov]

  Back to top *Congenital and juvenile cataracts. Ophthalmology, 3rd ed. 2008. **Pediatric cataracts. Textbook of Family Practice, 7th ed. 2007. Page updated June 2018 Like This Page? Please Share! [allaboutvision.com]

  Childhood cataracts are often referred to as: congenital cataracts – cataracts present when a baby is born or shortly afterwards developmental, infantile or juvenile cataracts – cataracts diagnosed in older babies or children Cataracts in babies and children [nhs.uk]

  Treatment of congenital and juvenile cataract with intraocular lens implants (pseudophakoi). Br J Ophthalmol 1970;54:759-65. [PUBMED] 3. Hiles D. Intraocular lens implantation in children with monocular cataracts, 1974-1983. [saudijhealthsci.org]

• Pediatric Disease

  Lloyd is a member of the editorial board of Clinical and Experimental Ophthalmology and in 2013 served as an international advisor to the Pediatric Disease Investigator Group (PEDIG). [springer.com]

• Gagging

  Author information 1 Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. 2 Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany. 3 Department of Ophthalmology, St Vincentius-Kliniken gAG [ncbi.nlm.nih.gov]

• High Arched Palate

  We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation, calcification of the basal ganglia and serology for the connatal infections [ncbi.nlm.nih.gov]

• Small Hand

  We report on a 27-year-old Caucasian female with congenital cataract and mental retardation complaining of progressive paresis and atrophy of the lower legs beginning at the age of 16 years followed by atrophy of the thighs and small hand muscles. [ncbi.nlm.nih.gov]

• Prominent Nasal Root

  We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation, calcification of the basal ganglia and serology for the connatal infections [ncbi.nlm.nih.gov]

Neonates exhibiting an abnormal red reflex warrant a prompt workup and consultation with an ophthalmologist. During the assessment, the medical team should elicit the maternal history which includes diet, exposure to pets, lifestyle, and living environment [10]. Also very important is a thorough newborn physical exam including a hearing test. Moreover, the evaluation will include pertinent studies.

Laboratory tests

Infectious causes should be investigated with TORCH titers and the Venereal Disease Research Laboratory (VDRL) test. Additionally, the workup may include a complete blood count (CBC) and urine studies measuring calcium, amino acids, phosphorous, etc.

Finally, another component of the workup includes genetic testing [11].

Imaging

Brain computed tomography (CT) may also be indicated.

PURPOSE: To analyze differences in the cost of treatment for infants randomized to primary intraocular lens (IOL) implantation versus optical correction with a contact lens (CL) after unilateral cataract surgery in the Infant Aphakia Treatment Study [ncbi.nlm.nih.gov]

Treatment Treatment Options: Visually significant cataracts may require removal. [disorders.eyes.arizona.edu]

Eye (Lond). 2016;30:1170–1174. doi:10.1038/eye.2016.124 [CrossRef] Lambert SR, Buckley EG, Infant Aphakia Treatment Study Group et al. The Infant Aphakia Treatment Study: design and clinical measures at enrollment. [healio.com]

As important as the surgical treatment is postoperative rehabilitation that will consist in the adequate correction with glasses or contact lenses of a possible residual ametropia, as well as the treatment of amblyopia for the recovery of visual acuity [barraquer.com]

The authors of these almost uniformly point out the difficulties and complications in such treatment and urge conservatism. [jamanetwork.com]

It has been shown that surgical intervention during the first 6 weeks of age is associated with a better visual prognosis than surgery at a later age. [ncbi.nlm.nih.gov]

(Outcomes/Resolutions) In general, the prognosis of Congenital Cataract is good. [dovemed.com]

Ophthalmologists today operate as early as the first few weeks of life, and the prognosis is much improved. [eye.com.ph]

Prognosis for Cataracts in Children The prognosis of children with congenital cataracts is good if treated early, i.e. within the first two months of the child's life. [epainassist.com]

13, Lowe syndrome infection, e.g. rubella, VZV, cytomegalovirus, HSV, toxoplasmosis metabolic, e.g. galactokinase deficiency Ultrasound assessment of the lens is recommended on second trimester anomaly scans 3 lens will appear echogenic Treatment and prognosis [radiopaedia.org]

Moreover, cytokines levels may be of interest to predict posterior capsule opacification and to complete the etiological workup. [ncbi.nlm.nih.gov]

Etiology There are over 50 causes of congenital cataracts. [radiopaedia.org]

The establishment of reliable, epidemiological estimates is an essential first step towards management strategies. [ncbi.nlm.nih.gov]

Data on epidemiology and surgery age are critical for improving management strategies for this challenging condition. [journals.plos.org]

Epidemiology, pathophysiology, causes, morphology, and visual effects of cataract. In: Yanoff M, Duker JS, eds. Ophthalmology. 5th ed. Philadelphia, PA: Elsevier; 2019:chap 5.3. Updated by: Franklin W. [medlineplus.gov]

Epidemiology, pathophysiology, causes, morphology, and visual effects of cataract. In: Yanoff M, Duker JS, eds. Ophthalmology. 5th ed. Philadelphia, PA: Elsevier; 2019:chap 5.3. Version Info Last reviewed on: 8/8/2019 Reviewed by: Franklin W. [mountsinai.org]

It would appear that the optimal time to remove a dense congenital cataract in an infant and to initiate optical treatment is when the child is 4–6 weeks of age The pathophysiology of aphakic open angle glaucoma is poorly understood. [bjo.bmj.com]

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. [emedicine.medscape.com]

INTRODUCTION: Prevention of visual impairment due to congenital cataract is an international priority as part of VISION 2020 - The Right to Sight, the joint initiative of the World Health Organization and the International Agency for the Prevention of [ncbi.nlm.nih.gov]

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2. Mansoor N, Mansoor T, Ahmed M. Eye pathologies in neonates. International Journal of Ophthalmology. 2016;9(12):1832-1838.
3. Chan WH, Biswas S, Ashworth JL, Lloyd IC. Congenital and infantile cataract: aetiology and management. Eur J Pediatr. 2012;171(4):625–630.
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5. Mets MB. Eye manifestations of intrauterine infections. Ophthalmol Clin North Am. 2001;14(3):521–531.
6. Eventov-Friedman S, Leiba H, Flidel-Rimon O, Juster-Reicher A, Shinwell ES. The red reflex examination in neonates: An efficient tool for early diagnosis of congenital ocular diseases. Isr Med Assoc J. 2010;12(5):259–261.
7. Rajavi Z, Sabbaghi H. Congenital Cataract Screening. Journal of Ophthalmic & Vision Research. 2016;11(3):310-312.
8. American Academy of Pediatrics; Section on Ophthalmology; American Association for Pediatric Ophthalmology And Strabismus; American Academy of Ophthalmology; American Association of Certified Orthoptists. Red reflex examination in neonates, infants, and children. Pediatrics. 2008;122(6):1401–1404.
9. Haider S, Qureshi W, Ali A. Leukocoria in children. J Pediatr Ophthalmol Strabismus. 2008;45(3):179-180.
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11. Kumar M, Kaur P, Kumar M, Khokhar S, Dada R. Molecular and structural analysis of genetic variations in congenital cataract. Mol Vis. 2013;19:2436-50.