{"references": ["1. Coloboma, Mosby's Medical, Nursing & Allied Health Dictionary, Fourth Edition, Mosby Year-Book, 1994, p. 361. 2. Duke-Elder S. Congenital deformities of the eye. In: System of ophthalmology. London: Henry Kimpton, 1964:415\u201329. 3. Hornby, SJ, Adolph S, Gilbert CE, Dandona L, Foster A.Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology. 2000;107 (3): 511\u201320. 4. Mann I. Developmental abnormalities of the eye. Philadelphia: Lippincott, 1957:81\u2013103.", "5. Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E. Ocular colobomata. Surv Ophthalmol. 2000;45(3):175\u201394. 6. Bernstein CS, Anderson MT, Gohel C, Slater K, Gross JM, Agarwala S. The cellular bases of choroid fissure formation and closure. Dev Biol. 2018;15;440(2):137- 151. doi: 10.1016/j.ydbio. 2018.05.010. Epub 2018 May 24. 7. Gregory-Evans K. Developmental disorders of the globe. In: Moore A, Lightman S, Eds.: Fundamentals of clinical ophthalmology: paediatric ophthalmology. London: BMJ Books, 2000:53\u201361. 8. Warburg M. Classification of microphthalmos and coloboma. J Med Genet 1993;30:664\u20139. 9. Nakamura KM, Diehl NN, Mohney BG. Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study. Arch Ophthalmol. 2011;129(1):69-74.doi: 10.1001/ archophthalmol. 2010.320. 10. Jeng-Miller KW, Cestari DM, Gaier ED. Congenital anomalies of the optic disc: insights from optical coherence tomography imaging. Curr Opin Ophthalmol. 2017;28(6):579-586. 11. Mann I . Developmental Abnormalities of the Eye. Cambridge University Press: London, UK, 1937. pp 65\u2013103. 12. Yanoff M, Fine BS. Ocular pathology: a text and atlas. Philadelphia: Harper and Row. 1982:402\u20134. 13. Vieira H, Gregory-Evans K, Lim N, Brookes JL, Brueton LA, Gregory-Evans CY. First genomic localisation of oculo-oto-dental syndrome with linkage to chromosome 20q13.1. Invest Ophthalmol Vis Sci. 2002;43:2540\u20135. 14. Gopal L, Badrinath SS, Kumar KS, Doshi G, Biswas N. Optic disc in fundus coloboma. Ophthalmology.1996; 103:2120\u20136. 15. Pons JC, Imbert MC, Elefant E, Roux, C, Herschkorn, P, Papiernik, E. Development after exposure to mifepristone in early pregnancy. Lancet 1991;338:763. 16. Pallotta R, Fusilli P, Sabatino G. Confirmation of the colobomatous macrophthalmia with microcornea syndrome:report of another family. Am J Med Genet. 1998;76:252\u20134. 17. Zlotogora J, Legum C, Raz J, et al. Autosomal recessive colobomatous microphthalmia. Am J Med Genet. 1994;49:261\u20132. 18. Porges Y, Gershoni BR, Leibu R, et al. Hereditary microphthalmia with colobomatous cyst. Am J Ophthalmol. 1992;114:30\u20134. 19. Barros NP, Medina C, Mendoza R, et al. Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? Clin Genet. 1995;48:160\u20131. 20. Miller MT, Stromland K. Teratogen update\u2014thalido- mide: a review, with a focus on ocular findings and new potential uses. Teratology.1999; 60:306\u201321. 21. Abdelrahman A and Conn R. Eye abnormalities in fetal alcohol syndrome. Ulster Med J. 2009;78:164\u20135. 22. Gopal L, Khan B, Jain S, Prakash VS. A Clinical and Optical Coherence Tomography Study of the Margins o f C h o r o i d a l C o l o b o m a s . O p h t h a l m o l o g y. 2007;114:571\u2013580. 23. Schubert HD. Structural Organization of Choroidal Colobomas of Young and Adult Patients and Mechanism of Retinal Detachment. Trans Am Ophthalmol Soc. 2005;103:457\u2013472. 24. Hornby SJ, Adolph S, Gilbert CE, Dandona L, Foster A. Visaul acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology. 2000;107(3):511\u2013520. 25. Hornby SJ, Ward SJ, Gilbert CE, et al. Environmental risk factors in the aetiology of congenital malformations of the eye in children in South India. Arch Trop Paediatr. 2002;22:67\u201377. 26. Gopal L. A clinical and optical coherence tomography study of choroidal colobomas. Curr Opin Ophthalmol. 2008;19:248\u201354."]}

This prospective research aimed to study the clinico-etiological features of patients with coloboma, consisted of 124 eyes of 80 patients with coloboma. Demographic and clinical data included age at presentation, gender and parental consanguinity. The best-corrected visual acuity was measured with a Snellen chart or Teller chart where possible. The presence of associated ocular anomalies and history of prophylactic laser photocoagulation was recorded. Standard Domain Optical Coherence Tomography (SDOCT) was done in cooperative patients. Mean age was 11.8± 2.25 years (1 month to 25 years). Parental consanguinity was documented in 7(8.75%) of the patients. 44 (55%) patients had bilateral olobomata and 36 (45%) had unilateral involvement. Among 80 patients, 25 (31.25%) cases had anterior colobomas, 31 (38.75%) cases had posterior involvement and 24(30%) cases had both anterior and posterior colobomas. Concurrent ocular anomalies were microphthalmia (32 cases, 40%), amblyopia (24 cases, 30%), strabismus (12 cases, 15%), cataract (10 cases, 12.5%), microcornea (9 cases, 11.25%), and nystagmus (13 cases, 16.25%). OCT in 11 cases showed a “Y-shaped” retina with a fusion of retinal layers and abrupt transition zone between the normal retina into the intercalary membrane (ICM) at the level of the coloboma was seen in 9 cases. Coloboma accounts for 3-11% of blindness in children worldwide. Early onset visual loss have profound consequences on a child's socio-psychological development. Timely diagnosis of coloboma, needful information to the parents regarding the disorder/ anomaly and visual rehabilitation of such subjects should be a priority. Genetic counselling may provide a pivotal role.