Congenital cataract - types, causes, features, treatment

Table of contents

  • Definition
  • Types
  • Etiology
    • Developmental
    • Genetic
    • List of syndromes
  • Clinical features
  • Treatment
  • Progression
  • Prevention

Previous questions from DNB exams

  1. Congenital cataract - April 2016
  2. Causes and Treatment of congenital cataract - December 2016
  3. Congenital cataract – diagnosis and management - June 2017, marks 5
  4. Congenital cataract: causes and prevention. - June 2020, marks 5

Definition

Any opacity of the lens is cataract and opacity which is present at birth is congenital cataract.

It can be unilateral or bilateral.
60% of cataracts are isolated defects.
Up to 22% can be a part of a syndrome.
Remaining cases are associated with unrelated major birth defects

Types of congenital cataract

  1. Congenital anterior polar cataract
  2. Persistent fetal vasculature
  3. Congenital posterior polar cataract
  4. Posterior lenticonus/lentiglobus
  5. Posterior subcapsular cataract
  6. Total cataract
  7. Zonular cataract

Etiology

Developmental variants

Prematurity with or without ROP, Mittendorf dot (remnant of hyaloid artery, persistent papillary membrane)

Genetic

  1. Simple Mendelian inheritance- AD, AR, X-linked
  2. Major chromosomal defects- Trisomies, Turner, deletion duplication
  3. Multisystem genetic disorder- Listed below
  4. Inborn errors of Metabolism- Galactossemia, galactokinase deficiency, Abetalipoproteinemia, homocystinuria, refsum disease, Wilson disease.
  5. Congenital infections – Toxoplasma, cytomegalovirus, syphilis, rubella, varicella infections.

List of Syndromes associated with congenital cataract

  1. Alport syndrome
  2. Cockayne syndrome
  3. Crouzon syndrome
  4. Down syndrome
  5. Ectodermal dysplasia
  6. Fabry disease
  7. Galactosemia
  8. Hypoparathyroidism
  9. Incontinentia pigmenti
  10. Lowe syndrome
  11. Marfan syndrome
  12. Myotonic dystrophy
  13. Trisomy 13 and 15

Clinical features

Blurred/poor vision
Asymmetrical red reflex
Leukocoria
Nystagmus
Strabismus
Photophobia
Delayed development due to lack of visual inputs.
Other associated syndromic manifestation

Natural progression

A congenital cataract may be stationary or progressive depending on the type.
To follow up till early amblyopic age i.e 5 years

Treatment

Basic principle

  1. Cataract that interferes significantly with vision needs to be treated.
  2. Visually insignificant cataracts need to be monitored for the development of amblyopia

Aim

The main aim is correction of associated sensory deprivation amblyopia. This involves two steps.

  1. Removal of lens material to provide an optically clear visual axis.
  2. Correction of the resultant aphakic refractive error.

The options for correction of refractory errors are

  1. Spectacles.
  2. Contact lenses can be used where spectacles cannot be.
  3. Intraocular lenses for 2 yr or older children

Progression

Depends on many factors like 

  1. age of onset
  2. age of intervention, 
  3. complications of the surgery, 
  4. the severity of attendant amblyopia. 

Persistent amblyopia is the most common cause of poor recovery.

Prevention

  1. Hereditary cataracts cannot be prevented, however appropriate screening of expecting parents and genetic counseling can help.
  2. Rubella vaccination before pregnancy and screening to TORCH infection where appropriate.
  3. Newborn screening for all fascilitates early diagnosis and appropriate management

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  2. Neonatal postural reflexes
  3. Neonatal thrombocytopenia
  4. Neonatal Jaundice
  5. Hypoxic ischaemic encephalopathy
auhtor

About Author

Mandira Roy | DNB(Pediatrics), fellowship in Developmental Pediatrics

Mandira has completed her pediatric residency at the Institute of Child health Kolkata and currently working as a Pediatrician with a special focus on developmental medicine.