helpful to whom who want to know

1. Chairman
Prof. Dr. Pankaj kumar Roy
Prof, Vitreo-Retina Department
NIO&H
Moderator
Dr. Nusrat Shahrin
Dept of paediatrics
Junior Consultant
NIO&H

2. Presenter
Dr Md Mahfuzul Aalm
MS, Phase B Resident
NIO&H
Topics
Evaluation of White Pupillary Reflex

3. • White pupillary reflex or Leukocoria is an
abnormal white reflection from the eye.
• Leukocoria is a sign for a number of several
condition.

4. DIFFERENTIAL DIAGNOSIS OF
LEUKOCORIA
• Congenital Cataract
• Retinoblastoma
• PHPV
• Toxocariasis
• Coat’s disease
• ROP stage 5
• Coloboma of optic disc & retina.

5. The differential diagnosis can be narrowed through:
History:
Age at presentation:
At birth :PHPV, Congenital cataract.
1-3 years :RB, Developmental cataract
Pre school age: Developmental cataract
Toxocariases, coat’s dis.
Birth history : Prematurity ,low birth weight-
ROP, PHPV
Family history : RB, Congenital cataract

6. Cont
• Ocular examination:
-EUA:
-Corneal diameter:
Both vertical and horizental meridian.
-IOP
-Anterior segment: Lens
-Fundus examination:
RB,PHPV,Coat’s disease, Toxocariasis, Coloboma
• Investigation:
B-scan
CT scan
MRI

9. CONGENITAL CATARACT
• Congenital cataract occurs in about 3 in 10000
live birth.
• Autosomal dominant inheritance is the most
common aetiological factor.
• Others include:
-Chromosomal abnormalities
-Metabolic disorder
-Intrauterine infections

10. Symptoms
• Mild cataracts may appears asymptomatic,
• Lack of reaction to light,
• Strabismus,
• A failure to notice toys and faces
• Delay in development
• Mild cataracts cause photophobia in bright
lights.
• Dense cataracts may associated with sensory
nystagmus

11. Associated metabolic disorders
• Galactosaemia
• Lowe disease
• Fabry disease
• Others
-Hypoparathyroidism
-Pseudohypoparathyroidism
-Hypo and hyper glycaemia

12. Associated intrauterine infections
• Rubella
• Toxoplasmosis
• CMV infection
• Varicella
• Others:
Measles
Syphilis
HSV infection
HIV infection

13. Others systemic association
• Down syndrome
• Edward syndrome

14. Ocular assessment
• There are three possibilities:
-A very dense cataract with no red reflex
-A less dense but still visually significant
cataract
-A visually insignificant opacity

15. Morphology
• Zonular cataract
• Lamellar cataract
• Nuclear opacity
• Coronary cataract
• Sutural cataract
• Anterior polar cataract
• Posterior polar cataract

16. cont
Associated ocular pathology
-Anterior segment
Corneal clouding
Microphthalmus
Glaucoma
PHPV
-Posterior segment
Chorioretinitis
Rubella retinopathy
Foveal or optic nerve hypoplasia

17. Systemic investigation
Screening for intrauterine infections should
usually be performed in unilateral or bilateral
cases.
Urine analysis:
-For reducing substance after
drinking milk.( galactosaemia)
-Chromatography for amino acid
(Lowe syndrome)

18. Other investigation
• FBS
• Sreum calcium and phosphorus.
• RBC galactokinase level

19. Retinoblastima

20. RETINOBLASTOMA
Retinoblastoma is an intraocular malignancy
with primitive neuroendocrine origins that
primarily affects young children.

21. INCIDENCE
• Occurs in about 1:18,000 live births
• Most common primary intraocular malignancy
of childhood
• Accounts for about 6.1% of all cancers in
children less than 5 years of age
• Occurs equally in males and females
• Approximately 60% of cases are unilateral and
the remaining 40% are bilateral

22. GENETICS
1. Heritable:( Germline mutation)
• Autosomal Dominant
• Mutation in both alleles of RB1 tumor suppressor
gene
• Have a predisposition to non-ocular cancers,
Pinealoblastoma (Trilateral Retinoblastoma),
Osteosarcoma,
Soft tissue sarcoma
Melanoma

23. 2. Non- heritable:
-Usually unilateral
-Does not predispose to second non-ocular
cancers

24. CLASSIFICATION
Group A
Small intraretinal tumors
(<3mm) away from
foveola and disc.

25. Cont.
Group B
Tumors >3mm, macular or
juxtapapillary location, or
with subretinal fluid

26. Group C
• Tumor with focal
subretinal or vitreous
seeding within 3mm of
tumor

27. Group D
• Tumor with diffuse
subretinal or vitreous
seeding >3mm from the
tumor

28. Group E
• Extensive retinoblastoma
occupying >50% of the
globe with or without
neovascular glaucoma,
haemorrhage, extension of
tumor to optic nerve or
anterior chamber

30. Cont of RB
DIAGNOSIS
1. History
• A careful history regarding present illness
• Family history of blindness,
• Eye tumors,
• Childhood malignancies
• Enucleations

31. DIAGNOSIS Contd.
2. Physical Examination
Slit lamp examination:-
-Ciliary injection
-Pseudohypopyon
-Iris neovascularization
- Signs of secondary glaucoma
- Relative afferent pupillary
defect

32. DIAGNOSIS Contd.
3. Dilated fundus examination
• Tonometry
• Measurement of corneal diameter
• Anterior chamber examination
• Ophthalmoscopy

33. DIAGNOSIS Contd.
4. Funduscopy findings
• Classically presents
One or multiple nodular, white or cream
colored masses .
• Endophytic:
Tumor grows anteriorly into the vitreous.
• Exophytic:
Tumor grows posteriorly into the subretinal
space.

35. INVESTIGATIONS
● Wide field photography
● Ultrasound
● CT Scan
● MRI

36. Persistant Hyperplastic
primary vitreous

37. • It’s congenital anomaly that results
failure of embryological primary vitreous
and hyaloid vasculature to regress.
• It is characterized by
Persistence of various portion of
primary vitreous,
• Association are
Microphthalmia,
Cataract and
Glaucoma.

38. Types of PHPV
1. Anterior PHPV:
When the remnant vascular stalk is seen is
attached to the back of the lens
 but not extended back to the optic nerve.
This form are usually associated with
Cataract,
Glaucoma and
Retrolenticular membrane.

39. 2. Posterior PHPV:
• When the remnant vascular stalk is seen arising
off optic nerve
• But not reaching the lens and usually not causing
cataract.
• Associated with
Abnormal development of the retina,
Optic nerve , macula .

40. 3.A combination of anterior and
posterior PHPV
• It is most commonly seen type.
• A band extending from retina to posterior
lens capsule.

41. SYMPTOMS
• PHPV typically present with
leukocoria
Microphthalmos
Cataract
Shallow anterior chamber
Retrolental fibrovascular membrane
Glaucoma
Strabismus

43. Anterior PHPV with cataract and
microphthalmia

44. Posterior PHPV with fibrovascular stalk

45. Diagnosis
• PFV is most readily diagnosed
-by direct visualization of any component
of the persistent fetal vasculature.
• In patients with poor view of the fundus
ultrasonography can be employed.

46. • In general
ultrasound,
computed tomography scanning,
magnetic resonance imaging, and
fluorescence angiography
are all reasonable options for establishing a
diagnosis

47. B Scan and FFA

48. Ocular Toxocariasis
• Ocular Toxocariasis
-Uncommon disease
-Affects mostly children and young adult,
-Resulting in significant vission loss.
• Parasites are:
a) Toxocara canis ( common dog parasites)
b) Toxocara cati (common cat parasites)
• Human acquire the infection
Accidental host by ingesting of food and soil
contaminated with Toxocara eggs

49. Symptoms
• Decreased vision,
• Pain,
• Photophobia, and
• Floaters.

50. Signs
• The most common
Vitritis (Over 90% of patient.)
Others
leukocoria,
Ocular injection,
And strabismus.

51. cont
• Clinical presentation:
-Posterior pole granuloma (25-46%)
-Retinochoroiditis
-Peripheral granuloma (20-40%)
-Chronic endophthalmitis (25%)

52. cont

53. Coat’s disease
• Coat’s disease is an idiopathic retinal
telangiectasia
• Generally occurs in early childhood.
• Associated with intra-retinal and sub-retinal
exudation
• Frequently exudative retinal detachment
• About 75% are male
• 90% have involvement of only one eye.

55. Shields' classification
• Stage 1: Retinal telangiectasia only
• Stage 2: Telangiectasia and exudation
A. Extra-foveal exudation
B. Foveal exudation
• Stage 3: Exudative retinal detachment
A. Subtotal detachment
1. Extra-foveal 2. Foveal
B. Total retinal detachment
• Stage 4: Total retinal detachment and glaucoma
• Stage 5: Advanced end-stage disease

56. Cont of coat’s disease
• Symptoms:
Unilateral visual loss
Strabismus
Leukocoria
• Fundus Findings:
Talengiectasia
Fusiform focal aneurysmal
arteriolar dilatations.
Intra and subretinal exudates.

57. • FFA:
Shows early hyperfluorescence of
telangiectasia
Aneurysmal dilatation
Late staining and leakage.
• OCT can be done in older cooperative patient
to see the macular function.

60. Retinopathy of Prematurity

61. RISK FACTOR
Major Risk Factors:
-Prematurity < 32 weeks gestation.
- Low birth weight < 1500 gm .
-Supplemental Oxygen.
Minor Risk Factor:
Maternal: Complications of pregnancy,
use of beta blockers.
Fetal :
Sepsis,
Vitamin E deficiency,
Intraventicular haemorrhage

62. Symptoms
Symptoms of severe ROP include:
• Nystagmus
• Amblyopia
• Strabismus
• Myopia
• Leukocoria
• Glaucoma
• Cataract
• Retinal detachment

63. Screening for ROP
• All pre mature born at or before 32 weeks of
gestation
• All premature with birth weight of 1500 gms
or less
• Screening should start 4 weeks after birth

64. Staging

66. Coloboma

67. Take Home Messages
• White Pupillary Reflex gives us alarming
symptoms for several diseases.
• Early diagnosis and treatment can save the
vision.