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Chapter-38 Fundus Coloboma

BOOK TITLE: Retina: Medical and Surgical Management

Author
1. Kumar Atul
2. Mutha Vineet
3. Sethi Anin
ISBN
9789352702947
DOI
10.5005/jp/books/18054_39
Edition
1/e
Publishing Year
2018
Pages
11
Author Affiliations
1. Dr. RP Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India, Dr RP Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, All India Institute of Medical Sciences New Delhi, India, Anil Hospital, Jaipur, India, Dr RP Center for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India, Jaipur, Rajasthan, India, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India, Women’s Health Center; Anil Nursing Home, Jaipur, Rajasthan, India, All India Institute of Medical Sciences, New Delhi, India
2. Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India, All India Institute of Medical Sciences, New Delhi, India
3. Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India, All India Institute of Medical Sciences, New Delhi, India
Chapter keywords
Fundus coloboma, coloboma gene network, CHARGE syndrome, lysergic acid diethylamide, LSD, prophylactic laser barrage, choroidal coloboma, optic nerve coloboma

Abstract

Coloboma is a defect in ocular tissue, which may involve lid, lens, iris or choroid with each having different embryological mechanisms. Fundus coloboma is a relatively rare disease and occurs in 0.14% of the general population. Still it is important to understand this condition because it may lead to a retinal detachment in as high as 40% cases. Fundus coloboma occurs due to defective closure of the embryonic fissure. Fundus coloboma usually presents as a bilateral (80%) asymmetric condition in the first decade of life with more than 85% cases with associated iris involvement, which appears as a keyhole like defect on gross examination. Most commonly fundus colobomas are located in the inferonasal quadrant and thus these are labeled “typical”. Environmental causes, clinical features, classification of choroidal coloboma, differential diagnosis, role of prophylactic laser barrage, coloboma and retinal detachment, surgical management, prognosis, and optic disc coloboma and other disc anomalies are discussed in this chapter.

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