Baby with Absent Red

Reflex
(White Pupilary Reflex)
Prof Deepthi
Samarage

Absent Red Reflex White Pupillary

reflex
Causes
Cornea- Opacities
Lens - Congenital Cataracts
Retina
Choreoretinitis
Retinobalstoma

Causes of Cataracts
Congenital infections Rubella
/TORCH
Galactosemia
Homocystinuria
Down Syndrome
Hereditary
Prolonged steroid therapy

Choreotretinitis
Congenital infections
CMV
Congenital Rubella
Congenital Toxoplasma

Congenital Rubella
Extremely Rare with MMR vaccination
Foetus is likely to affect 1st > 2nd > 3rd
trimester
Mother may give H/O fever with a rash

Clinical Features- Congenital

Rubella

IUGR

Microcephaly, intracerebral calcifications

CHD- PDA

Deafness

Clinical Features- Congenital Rubella

Hepatomegaly neonatal hepatitis

prolonged jaundice
Splenomegaly
Anaemia
Thrombocytopaenia /purpuric rashes

Clinical Features- Congenital Rubella

Eye Signs Congenital Rubella Syndrome

Cataract
Microphthalmia
Choreoretinitis

Investigations
Isolation of the rubella virus in
culture
Rubella-specific IgM antibodies
Rubella-specific IgG antibodies
Rubella virus RNA by PCR

Cytomegolovirus ( CMV)
infection
85- 90% are normal at birth & develop
normally
Others 10-15%
SGA/IUGR
Hepatosplenomegaly
Microcephaly
petechiae and purpura.
developmental delay/deafness/ cerebral
palsy, epilepsy

CMV
Intra-cerebral calcifications

 Isolating the virus - urine or saliva

(first three weeks ).
CMV -PCR in the urine and serum
Treatment with ganciclovir to prevent
hearing impairment

Congenital Toxoplasmosis
Infection with Toxoplasma gondi
Consumption of raw /uncooked meat or
contact with feaces of infected cats
Infection is high in 3rd trimester
Clinical features
Chreoretinitis
Hydrochepalus
Intracranial calcifications
Treatment with pyremthamine & sulphadiazine

Retinoblastoma

Retinoblastoma
Retinal tumour expand to fill the vitreous
Unilateral /Bilateral
Bilateral- hereditary Chromosome 13
Autosomal dominanat incomplete penetrance
MRI to conform the diagnosis

Retinoblastoma
Treatment depends on size of the tumor and its laterality.
Large, unilateral tumors are treated with enucleation
(removal of the eye)
Laser therapy
Bilateral tumors - Chemotherapy to shrink
Radiotherapy for advance cases and recurrences
Secondary tumors could occur