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Year : 1980  |  Volume : 28  |  Issue : 4  |  Page : 221-223

Colobomatous microphthalmos with diaphragmatic eventeration

Department of Ophthalmology, Govt. R.M. Hospital, Thanjavur, India

Correspondence Address:
N Radhakrishnan
Govt. R.M. Hospital, Thanjavur
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Source of Support: None, Conflict of Interest: None

PMID: 7287116

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How to cite this article:
Radhakrishnan N. Colobomatous microphthalmos with diaphragmatic eventeration. Indian J Ophthalmol 1980;28:221-3

How to cite this URL:
Radhakrishnan N. Colobomatous microphthalmos with diaphragmatic eventeration. Indian J Ophthalmol [serial online] 1980 [cited 2023 Nov 30];28:221-3. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?1980/28/4/221/28262

It is not uncommon to see congenital ocu­lar anomalies in one form or other. Large series of reports have been published about colobomatous microphthalmos. Colobomatous eyes with other systemic deformities such as general failure in the closure of the embryolo­gical fissures of the face, mandibular dysosto­sis, axillary hypoplasia, cardiac defects, syndactyly and polydactyly have been reported earlier. Here, we are reporting a case of colobomatous microphthalmos with diaphrag­matic eventration which is an abnormally elevated position of one half of an intact diaphragm.

  Case report Top

A 3 months old male child X born to consanguineous parents, in normal labour was presented with the complaints of repeated respiratory infection and dyspnoea for the last one month. Examination of the respiratory system revealed adventitious sounds in both the lung fields. Subsequent investigations like plain X ray chest, and Barium meal helped the paediatric surgeon to diagnose diaphrag­matic exenteration. Ocular Examination showed bilateral microphthalmos with micro­cornea and typical coloboma of the iris. Fundus examination revealed associated typi­cal coloboma of the choroid in both eyes. Optic discs, vessels and retinae were normal. No other ocular abnormality was made out. [Figure - 1][Figure - 2]

Child was surgically treated for the dia­phragmatic hernia by abdominal approach excision of excess sac, repair, and gastropexy. Biopsy of the sac confirmed exenteration of the diaphragm

  Discussion Top

The term coloboma indicates a condition wherein a portion of a structure of the eye is lacking. The great majority of congenital defects of this nature are found in the region of the embryonic cleft and are due to disturbance of the mechanism of its closure. Even though there is a strong evidence for autoso­mal dominant mode of transmission, there is no evidence in this particular case.

The eventration has been defined as an abnormally elevated position of one half of the intact diaphragm. It may be due to aplasia or atrophy of the muscle fibres of the diaphragm or failure of muscular migration into the embryonic pleura-peritoneal fold. A British survey of perinatal mortality showed that diaphragmatic hernia was present in 1 out of 2200 live births and that it comprised 8°,0 of all major congenital anomalies[2],[3] Major associated malformations are abnormalities of the central nervous system (Anencephaly, Arnold- Chiari-malformation, hydrocephalus etc.), congenital heart disease and exompha­los. Ocular association of congenital colobo­mation defect has not been repeated.

  Summary Top

A case of colobomatous microphthalmos associated with diaphragmatic exenteration in a 3 months old male child is reported for its rare association of diaphragmatic exenteration with ocular congenital anomaly.

  References Top

Duke Editor, S., 1964 System of Ophthalmology, Vol. III Part 2, St. Louis, C.V. Mosby Co., 1964, pp. 456-495.  Back to cited text no. 1
Bornham-Carter, R.E. Waterson, and D.J., Aberdeen, E., 1962, Lancet 1:656-1962.  Back to cited text no. 2
Michelson, E., 1961, Surgery 49:411.  Back to cited text no. 3


  [Figure - 1], [Figure - 2]

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