20/11/2012

R, 6mth, Mch

R/O Hamirpur

Himachal pradesh

Whitish eyes since birth

Not properly following to light

Poor response to sounds (Noted subsequently)

Delivered vaginally at term at home, cried after

birth

Antenatal period not supervised but uneventful

Peri – postnatal period uneventful

Breastfed exclusively

Immunization started at ~6 wk of age

No significant family history

Vitals stable

Lt – 64 cm (~50th centile)

Wt - 5.5 kg ( <3rd centile)

OFC - 42cm ( > 15th centile - < 50th centile) Eyes

B/L aphakia No proper fixation Follows light Nystagmus b/l

No obvious dysmorphism

Abdomen- soft, no organomegaly

CVS - S1S2 normal, no murmur Respiratory system - normal

CNS

Alert, consolable

Poor response to sound

Tone & reflexes normal

5 mth, M

B/L aphakia

Impaired hearing

Congenital cataract

Retinoblastoma

Retinopathy of prematurity

Persistent hyperplastic primary vitreous

•EUA•Dilated pupils•Direct ophthalmoscopy•USG of eye and orbit

Post operative case of bilateral congenital cataract with

impaired hearing under evaluation

Cause of impaired hearing ?

Rubella

Retinitis pigmentosa

Craniofacial dysplasia

Alports syndrome

Opacity in lens

Can be:

Congenital or Acquired

Unilateral or Bilateral

Partial or Complete

Congenital: 6/10,000 (10% of childhood blindness)

Maternal Factors Malnutrition Infection

TORCHS (50% cases with rubella has cataract at birth)

Measles Varicella Zoster Influenza

Drugs Corticosteroids, Thalidomide

Radiation

Fetal / Infantile Factors Fetal malnutrition Deficient oxygenation Metabolic disorder

Galactosemia Neonatal hypoglycemia

Associated with other congenital anomalies Lowe’s syndrome Myotonic dystrophy

Birth trauma

Hereditary / Genetic: ~1/3rd of cases

Idiopathic: ~50% of cases

Systemic Diseases

Diabetes mellitus Atopic dermatitis Neurofibromatosis 2

Ocular Diseases

Chronic anterior uveitis High myopia Retinitis pigmentosa

Drugs

•Chlorpromazine

Trauma

•Sporadic, no family history

•Ocular anomalies : Persistent foetal vasculature

•Cause identified in only 10%

Disturbances in normal growth of lens

Opacity of lens at various locations

White pupillary reflex

Impaired refraction of lens

Focusing of image elsewhere than retina

Amblyopia

In central visual axis, bigger than 3mm

Posterior cataract

No clear zones in between

Retinal details not visible with direct ophthalmoscope

Nystagmus or strabismus present

Poor central fixation after 8 weeks

Screening of newborns with red reflex test

History

Family

Maternal infections

Maternal drugs

Maternal radiation exposure

Examination of newborn / infant / child

Associated systemic diseases or syndromes

TORCHS screen

Index case

Metabolic

Blood glucose (Hyperglycemia)

Serum calcium, phosphate, X-ray skull (Hypoparathyroidism)

Urine- reducing substances (Galactosaemia)

Haematuria (Alport syndrome)

Urine chromatography for amino acids ( Lowe syndrome)

Detail ophthalmologic evaluation

EUA, ophthalmoscopy with dilated pupil, USG

Index case hearing

assessment planned

Visually significant cataract

Cataract extraction and

IOL implantation

Non visually significant cases

Careful observation,

Possible pupillary dilation

Index case:Cataract extracted B/L Spectacles – prescribed

IOL implantation planned after 2 yrs of

age

Bilateral dense cataracts

Within six weeks of birth

1 week apart

Unilateral dense cataracts

ASAP (within days)

In 1st yr axial length increases very fast

It causes myopic shift of growing eye

Goal

Undercorrect the refraction

20% in neonate and 10% in toddlers

Retrobulbar

hemorrage

Oculocardiac reflex

Muscle lacerations

Corneal / uveal injury

Vitreous loss

Nucleous drops into

vitreous cavity

Hyphaema

Cystoid macular edema

Endopthalmitis

After cataract

6wk 4mth 5mth 6mth

White eyesEnucleation of lens done

Left eye Right eye

conjunctivitis

Topical antibiotics

Plan

Possible

Many centers across the globe

Cataract

PHPV

Early recognition and detection – most important

Correct management is essential to prevent permanent

visual loss

Evaluation and treatment should go side by side

Knowledge of common associated systemic conditions

Team effort is essential (ophthalmologist, pediatrician,

geneticist)

Counseling of parents and family members