chromosomal abnormalities affecting the eye
TRANSCRIPT
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Chromosomal abnormalities affecting
the eye
By: Aditya ChaudhryRoll no. 77
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Chromosomal deletion syndromes
• Cri-du Chat syndrome (5p)• Cri-du Chat syndrome (11p)• Cri-du Chat syndrome (13q)• De Grouchy syndrome (18q)• Turner syndrome (XO)
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Cri-du- Chat syndrome • Its name is a French term (cat-cry or call of the cat) referring to the
characteristic cat-like cry of affected children.• The condition affects an estimated 1 in 50,000 live births.• More common in females by a 4:3 ratio.
Signs and symptoms:a. Feeding problems because of difficulty swallowing and sucking.b. Low birth weight and poor growth.c. Severe cognition, speech, and motor delays.d. Behavioural problems such as hyperactivity, aggression, tantrums, and
repetitive movements.e. Excessive drooling.f. Constipation.
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Ocular manifestations in Cri-du- Chat (5p)
• Hypertelorism• Epicanthus• Antimongoloid slant• Strabismus
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Hypertelorism
Before After correction
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Epicanthus
Antimongoloid slant
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Ocular manifestations in Cri-du- Chat (11p)
• Aniridia• Glaucoma• Foveal hypoplasia• Nystagmus• Ptosis
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Aniridia Ptosis
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Ocular manifestations in Cri-du- Chat (13q)
• Retinoblastoma• Hypertelorism• Micropthalmos• Epicanthus• Ptosis• Coloboma• Cataract
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Microphthalmia
Coloboma
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Retinoblastoma
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De Grouchy Syndrome• Deletion of short arm of chromosome 18• Manifests as mental retardation, short stature, hypotonia.Ocular manifestations:i. Hypertelorismii. Epicanthusiii. Ptosisiv. Strabiusmusv. Myopiavi. Glaucomavii. Microphthalmosviii. Colobomaix. Optic atrophyx. Corneal opacity
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Strabismus
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Turner Syndrome• Monosomy X• Affected females have short stature, webbed neck, gonadal dysgenesis.
• Ocular manifestations:i. Antimongoloid slantii. Epicanthusiii. Ptosisiv. Strabismusv. Blue scleravi. Eccentric pupilsvii. Cataract viii. Colour blindnessix. Pigmentary disturbances of pupils
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Thank You