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DIFFERENTIAL
DIAGNOSIS OF
CONGENITAL CATARACT
V.SAI SANDEEP
ROLL NO:171
07/11/2018
• Differential diagnosis :
Other causes of leucocoria like
1. Retinoblastoma
2. ROP
3. PHPV
4. Retro lental fibroplasia
5. Toxocoriasis
6. Retinal detachment
7. Old vitreous haemorrhage
8. Coats disease
9. Coloboma choroid
Retinoblastoma
• Retinoblastoma is the most common and rapidly developing intraocular tumor
of childhood, accounting for 1% of childhood cancer deaths and 5% of
blindness in children.
• Develops in the cells of the retina in childhood(1-4) year. Approximately 1in
20,000 birth
• The disease is bilateral in approximately 30% of cases.
• Overall mortality from retinoblastoma is now decreased.
• With modern diagnostic and therapeutic advances, the mortality rate from
metastatic or recurrent retinoblastoma has been as low as 5%.
• Leukocoria - 60% • Strabismus - 20% • Secondary glaucoma
• Anterior segment invasion • Orbital inflammation • Orbital invasion
Presentations of Retinoblastoma
• retinoblastoma
RETINOBLASTOMA
07/11/2018
Congenital retinal telangiectasis (Coats' disease)
• Idiopathic Retinal vascular disorder
• Usually affects young male patients unilaterally in their first or second
decade of life.
• Up to 1/3rd of patients are >30 years at time of presentation.
• No defined familial inheritance.
• Presentation- patients may present with decreased vision, as well as
strabismus or leukocoria in children.
• The hallmark feature of congenital retinal telangiectasis is localized
fusiform aneurysmal dilations of the retinal vessels reminiscent of tiny
light bulbs
07/11/2018
• Coats disease
07/11/2018
Persistent hyperplastic primary vitreous (PHPV)
• Congenital anomaly in which the primary vitreous fails to regress
in utero.
• Highly vascular mesenchymal tissue forms a mass behind the
lens.
• A grey-yellow retro-lental membrane may produce leukocoria.
• The globe is white and slightly micro-ophthalmic.
• PHPV are mostly unilateral and non-hereditary. When bilateral,
PHPV may follow autosomal recessive or autosomal dominant
inheritance pattern.
07/11/2018
07/11/2018
07/11/2018
07/11/2018
07/11/2018
07/11/2018
07/11/2018
COLOBOMA
•Greek word koloboma meaning mutilated or curtailed.
•Occurs due to failure of closure of choroidal fissure
 Coloboma of optic disc:
 Coloboma of choroid and retina:
 Coloboma of macula:
• Associations
 CHARGE Syndrome,Trisomy 13 (Patau syndrome)
Trisomy 18 (Edwards syndrome),Cat-eye syndrome
• Posteriorly located coloboma can involve the optic nerve, retina, and choroid.
• If the retina is involved, it appears as an area of whitening often with pigment
deposition at the junction of the coloboma and normal retina.
• patients with coloboma have increased risk for retinal detachment.
07/11/2018
Retinal detachment in childhood
• Retinal detachment in childhood can be confused with retinoblastoma, and vice versa.
• The possibility of an underlying retinoblastoma should always be considered when a child
presents with retinal detachment and vitreous haemorrhage, even when a history of trauma
is obtained.
Retinal dysplasia
• Characteristic Ocular Findings inTrisomy 13
• May present with bilateral Leukocoria.
• Rarely, retinal dysplasia occurs unilaterally in the congenitally malformed eyes of otherwise
healthy persons.
All children with newly discovered leukocoria should be referred promptly
to an ophthalmologist to exclude retinoblastoma and other life- or sight-
threatening conditions
07/11/2018

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Differential diagnosis of congenital cataract

  • 3. • Differential diagnosis : Other causes of leucocoria like 1. Retinoblastoma 2. ROP 3. PHPV 4. Retro lental fibroplasia 5. Toxocoriasis 6. Retinal detachment 7. Old vitreous haemorrhage 8. Coats disease 9. Coloboma choroid
  • 4. Retinoblastoma • Retinoblastoma is the most common and rapidly developing intraocular tumor of childhood, accounting for 1% of childhood cancer deaths and 5% of blindness in children. • Develops in the cells of the retina in childhood(1-4) year. Approximately 1in 20,000 birth • The disease is bilateral in approximately 30% of cases. • Overall mortality from retinoblastoma is now decreased. • With modern diagnostic and therapeutic advances, the mortality rate from metastatic or recurrent retinoblastoma has been as low as 5%.
  • 5. • Leukocoria - 60% • Strabismus - 20% • Secondary glaucoma • Anterior segment invasion • Orbital inflammation • Orbital invasion Presentations of Retinoblastoma
  • 9. Congenital retinal telangiectasis (Coats' disease) • Idiopathic Retinal vascular disorder • Usually affects young male patients unilaterally in their first or second decade of life. • Up to 1/3rd of patients are >30 years at time of presentation. • No defined familial inheritance. • Presentation- patients may present with decreased vision, as well as strabismus or leukocoria in children. • The hallmark feature of congenital retinal telangiectasis is localized fusiform aneurysmal dilations of the retinal vessels reminiscent of tiny light bulbs
  • 13. Persistent hyperplastic primary vitreous (PHPV) • Congenital anomaly in which the primary vitreous fails to regress in utero. • Highly vascular mesenchymal tissue forms a mass behind the lens. • A grey-yellow retro-lental membrane may produce leukocoria. • The globe is white and slightly micro-ophthalmic. • PHPV are mostly unilateral and non-hereditary. When bilateral, PHPV may follow autosomal recessive or autosomal dominant inheritance pattern.
  • 21. COLOBOMA •Greek word koloboma meaning mutilated or curtailed. •Occurs due to failure of closure of choroidal fissure  Coloboma of optic disc:  Coloboma of choroid and retina:  Coloboma of macula: • Associations  CHARGE Syndrome,Trisomy 13 (Patau syndrome) Trisomy 18 (Edwards syndrome),Cat-eye syndrome • Posteriorly located coloboma can involve the optic nerve, retina, and choroid. • If the retina is involved, it appears as an area of whitening often with pigment deposition at the junction of the coloboma and normal retina. • patients with coloboma have increased risk for retinal detachment.
  • 23. Retinal detachment in childhood • Retinal detachment in childhood can be confused with retinoblastoma, and vice versa. • The possibility of an underlying retinoblastoma should always be considered when a child presents with retinal detachment and vitreous haemorrhage, even when a history of trauma is obtained.
  • 24. Retinal dysplasia • Characteristic Ocular Findings inTrisomy 13 • May present with bilateral Leukocoria. • Rarely, retinal dysplasia occurs unilaterally in the congenitally malformed eyes of otherwise healthy persons.
  • 25. All children with newly discovered leukocoria should be referred promptly to an ophthalmologist to exclude retinoblastoma and other life- or sight- threatening conditions

Editor's Notes

  1. …….