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| CASE REPORT |
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| Year : 1980 | Volume
: 28
| Issue : 4 | Page : 221-223 |
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Colobomatous microphthalmos with diaphragmatic eventeration
N Radhakrishnan
Department of Ophthalmology, Govt. R.M. Hospital, Thanjavur, India
Correspondence Address:
N Radhakrishnan
Govt. R.M. Hospital, Thanjavur
India
 Source of Support: None, Conflict of Interest: None  | Check |
PMID: 7287116 
How to cite this article:
Radhakrishnan N. Colobomatous microphthalmos with diaphragmatic eventeration. Indian J Ophthalmol 1980;28:221-3 |
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 | |  |
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 | | |
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 | | |
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 | | |
| 1. | Duke Editor, S., 1964 System of Ophthalmology, Vol. III Part 2, St. Louis, C.V. Mosby Co., 1964, pp. 456-495.  |
| 2. | Bornham-Carter, R.E. Waterson, and D.J., Aberdeen, E., 1962, Lancet 1:656-1962. |
| 3. | Michelson, E., 1961, Surgery 49:411. |
[Figure - 1], [Figure - 2]
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