Congenital Cataract
Blue-Dot Cataract
Congenital cataract is a severe ocular disease that should be detected as early as possible to ensure prompt management and the prevention of blindness. Etiologies include genetic mutations, chromosomal abnormalities, metabolic disorders, and intrauterine infections. Congenital cataract is identified on the red reflex screening in the newborn exam.
Presentation
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.
Entire Body System
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]
Atrial Septal Defect
- We describe a woman with an atrial septal defect, bilateral congenital cataracts, unilateral microphthalmia and minor dysmorphic features, originally attributed to an unidentified infection in utero, whose daughter has a similar constellation of heart[ncbi.nlm.nih.gov]
Gastrointestinal
Dysphagia
- In addition to these features, some affected individuals had dysphagia and movement disorder, especially choreiform movements. They all showed small body mass, due possibly to poor nutrition from dysphagia.[ncbi.nlm.nih.gov]
Jaw & Teeth
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]
Eyes
Corneal Edema
- Postoperatively, the most common early complication was transient corneal edema observed in 22 (46.8%) eyes (13 and 8 eyes in the early and late surgery groups, respectively).[ncbi.nlm.nih.gov]
Musculoskeletal
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]
Face, Head & Neck
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]
Neurologic
Dystonia
- The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (ADHD), microcephaly, growth retardation, congenital cataract, and dystonia.[ncbi.nlm.nih.gov]
- 18 Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anaemia Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic[ukgtn.nhs.uk]
Workup
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.
Microbiology
Treponema Pallidum
- Other intrauterine infectious causes include Treponema pallidum and varicella zoster virus (VZV).[symptoma.com]
Toxoplasma Gondii
- Intrauterine infections with Rubella virus, Herpes simplex virus (HSV) and Toxoplasma gondii plays an important role in the development of congenital cataract.[ncbi.nlm.nih.gov]
Treatment
- 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]
- Eight months later, he developed a bilateral plastic uveitis which, in spite of intensive medical treatment, resulted in NPL (no perception of light) in the implanted eye and 2/60 vision in the fellow eye.[ncbi.nlm.nih.gov]
- Treatment with topical and systemic steroids did not improve the uveitis. However, bilateral lens extraction resulted in a quick resolution of the uveitis.[ncbi.nlm.nih.gov]
- Treatment Treatment Options: No effective treatment has been reported.[disorders.eyes.arizona.edu]
- Treatment Treatment Options: Visually significant cataracts may require removal.[disorders.eyes.arizona.edu]
Prognosis
- 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]
- 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]
- Diagnosis - Total Congenital Cataracts Cold & Flu: Home Testing: Home Fever Tests Home Ear Infection Tests Home Flu Tests Vision & Eye Health: Home Testing: Home Eye Tests Home Vision Tests Prognosis - Total Congenital Cataracts Not supplied.[checkorphan.org]
- […] syndrome, trisomy 13, Lowe syndrome infection, e.g. rubella, VZV, CMV, 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]
Etiology
- The findings provide suggestions for etiology of CC, improvements in screening techniques and development of public health strategies.[ncbi.nlm.nih.gov]
- Moreover, cytokines levels may be of interest to predict posterior capsule opacification and to complete the etiological workup.[ncbi.nlm.nih.gov]
- Extensive investigation did not reveal any underlying etiologic mechanism. Treatment with topical and systemic steroids did not improve the uveitis. However, bilateral lens extraction resulted in a quick resolution of the uveitis.[ncbi.nlm.nih.gov]
- Approximately one-third of congenital cataract cases are familial, whose genetic etiology can be distinguished by targeted exome sequencing.[ncbi.nlm.nih.gov]
- Etiologies include genetic mutations, chromosomal abnormalities, metabolic disorders, and intrauterine infections. Congenital cataract is identified on the red reflex screening in the newborn exam.[symptoma.com]
Epidemiology
- The establishment of reliable, epidemiological estimates is an essential first step towards management strategies.[ncbi.nlm.nih.gov]
- The present study is part of the Epidemiology and Safety (EPISAFE) collaborative program aiming at assessing the epidemiology and safety of interventions in ophthalmology.[ncbi.nlm.nih.gov]
- This study provides an epidemiological data for rubella, HSV and T. gondii in children with congenital cataract and highlights the need to introduce rubella vaccine in the National Immunization Programme of India. Copyright 2016 Elsevier Inc.[ncbi.nlm.nih.gov]
- Author information 1 Lifecourse Epidemiology and Biostatistics Section, Population, Policy and Practice Programme, University College London Institute of Child Health, London, UK. 2 Great Ormond Street Hospital and Institute of Child Heath, NIHR Biomedical[ncbi.nlm.nih.gov]
- Data on epidemiology and surgery age are critical for improving management strategies for this challenging condition.[journals.plos.org]
Pathophysiology
- 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]
Prevention
- 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]
- Congenital cataract is a severe ocular disease that should be detected as early as possible to ensure prompt management and the prevention of blindness.[symptoma.com]
- Follow-up was 18 months, during which amblyopia prevention therapy was instituted.[ncbi.nlm.nih.gov]
- Further study will continue to address the surgery timing issue and methods that prevent postoperative complications.[ncbi.nlm.nih.gov]
- SUMMARY: We review updates in the management of congenital cataract, which remains a major cause of preventable childhood blindness.[ncbi.nlm.nih.gov]
References
Article
- Lu B, Yang Y. Detection of TORCH pathogens in children with congenital cataracts. Experimental and Therapeutic Medicine. 2016;12(2):1159-1164.
- Mansoor N, Mansoor T, Ahmed M. Eye pathologies in neonates. International Journal of Ophthalmology. 2016;9(12):1832-1838.
- Chan WH, Biswas S, Ashworth JL, Lloyd IC. Congenital and infantile cataract: aetiology and management. Eur J Pediatr. 2012;171(4):625–630.
- 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.
- Mets MB. Eye manifestations of intrauterine infections. Ophthalmol Clin North Am. 2001;14(3):521–531.
- 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.
- Rajavi Z, Sabbaghi H. Congenital Cataract Screening. Journal of Ophthalmic & Vision Research. 2016;11(3):310-312.
- 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.
- Haider S, Qureshi W, Ali A. Leukocoria in children. J Pediatr Ophthalmol Strabismus. 2008;45(3):179-180.
- 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)
- 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.