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]

• 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.

• Treponema Pallidum

  Other intrauterine infectious causes include Treponema pallidum and varicella zoster virus (VZV). [symptoma.com]

1. Lu B, Yang Y. Detection of TORCH pathogens in children with congenital cataracts. Experimental and Therapeutic Medicine. 2016;12(2):1159-1164.
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.
4. Li Z, Yan C, Liu P, Yan R, Feng Z. Prevalence of serum antibodies to TORCH among women before pregnancy or in the early period of pregnancy in Beijing. Clin Chim Acta. 2009;403(1-2):212–215.
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.
10. Thaller R, Tammaro F, Pentimalli H. Risk factors for toxoplasmosis in pregnant women in central Italy. Infez Med. 2011;19(4):241–247. (In Italian)
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.