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| ARTICLES |
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| Year : 1978 | Volume
: 26
| Issue : 3 | Page : 23-26 |
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Keratoglobus and complicated microphthalmos
SC Reddy
Government Headquarters Hospital, Ongole, India
Correspondence Address:
S C Reddy
Civil Assistant Surgeon and Eye Specialist, Government Headquarters Hospital, Ongole
India
 Source of Support: None, Conflict of Interest: None  | Check |
PMID: 738777 
How to cite this article:
Reddy S C. Keratoglobus and complicated microphthalmos. Indian J Ophthalmol 1978;26:23-6 |
Keratoglobus is a rare condition wherein the cornea is enlarged, protruded and globular in shape. The cornea is transparent, thinned especially in the periphery and the base diameter is either normal or slightly increased. Blue sclera, hearing defects, hyperextensible joints and abnormal teeth are the congenital anomalies described in association with keratoglobus[1],[4],[10]
Retardation of growth of eyeball after the primary optic vesicle has budded out results in microphthalmos. Complicated microphthalmos is a condition wherein a small eye ball is associated with other congenital abnormalities. Ocular anomalies associated with microphthalmos[6] are corneal opacities, cataract, aniridia, coloboma of iris, retina, choroid and optic disc. The general anomalies[6] include polydactyly, syndactyly, harelip and cleft palate, deafness arachnodactyly and cryptorchidism.
Von Hipple[15] observed microphthalmos with cyst of lower lid in four individuals and in some of them polydactyly and syndactyly, cysts of kidney, liver and pancreas, club foot, atresia of urethra, absence of olfactory nerve, cleft palate, absence of optic nerve and arhinocephaly were presents. Neurological affections described in association with microphthalmos are encephalocele[2], oligophrenia and congenital spastic diplegia[6], Lindaus disease and orbital meningo encephalocelele[16].
Microphthalmos as part of syndrome[6] in oculo-auricular dysplasia, oculo-dento-digital dysplasia, oculo-vertebral dysplasia and dyscranio-pygophalyngea, and as part of disease[9] in maternal rubella, trisomy 13 and toxoplasmosis has been described in the literature.
From our country also, cases of microphthalmos have been reported. Orbital or orbitopalpabral cysts[8],[14] congenital dacryocystitis and arhinocephaly unilateralis[11] coloboma of iris, retina, choroid, optic nerve and urogenital lesions like ectopic ureter, hydroureter and hypoplastic kidney[12] are the anomalies described in association with microphthalmos.
Keratoglobus and microphthalmos with other congenital anomalies have earlier been reported separately in individual cases. However, a combination of both the conditions in a single patient has not been described so far in the literature. Therefore, in view of its rarity, the author presents this case.
| Case Report | |  |
A full term female baby, born on 25-l-'77 in our hospital by spontaneous breech delivery to a healthy primi, was brought to the eye department on the first day of life with the complaints that the right eye was protruding and the left eye was not clearly visible. There was no history of maternal infection or intake of any drug during pregnancy. Besides history of consanguinity, family history was non-contributory.
On examination of the baby, there was no cyanosis or respiratory distress. The following congenital anomalies were noted:-
- Keratoglobus in right eye [Figure - 1]
- Microphthalmos with corneal opacity in left eye [Figure - 1][Figure - 2]
- Hypoplasia of right ear [Figure - 3]
- Pre-auricular appendage and non-canalisation of external auditory meatus of left ear [Figure - 4]
- Enlarged clitoris and scrotal sac like appearance of labia majora [Figure - 5]
- Recto vaginal fistula [Figure - 6]
- Flexion deformity of right wrist and arachnodactyly of both hands [Figure - 7]
The systemic examination did not reveal any congenital abnormality.
Ocular Examination
Right Eye : The lid margins were partly hidden under the protruded cornea. The cornea was enlarged, globular in shape, transparent, thin and bulging forward [Figure - 1]. Anterior chamber was deep.
Left Eye: The lids were closed with few mm gap in between the lid margins. Eye ball was not visible [Figure - 1]. On separating the lids with retractors the eye ball appeared small in size. The cornea was small, opaque and vascularised [Figure - 2]. Nothing was visible beyond the cornea.
On the 3rd day there was slight reduction in corneal bulge, following a small perforation in the periphery of cornea, leading to corneal opacification [Figure - 8]. The baby could open the left eye better and one could see the small eye ball inside.
The baby was discharged on the 11 th day of admission and advised to come for follow up. But the baby was not brought to the hospital afterwards.
| Discussion | | |
The present case differs with the previous reports as the combination of keratoglobus and microphthalmos has not been described so far in a single patient. Moreover, the associated aural anamalies (hypoplasia of ear and noncanalisation of external auditory meatus) and genital anomalies (enlarged clitoris and recto vaginal fistula) have not been observed previously either in keratoglobus or in microphthalmos, and this case does not fit into any one of the syndromes described in the literature. The length 41.5 cm, the head circumferance 27.5 cm, and the chest measurement 28.5 cm indicate a generalised under-development of the baby as a whole.
The nature of anomaly in keratoglobus has been disputed. However. it was considered to be a variant of megalocornea[7], or to be a sign of arrested buphthalmos which has become latent[3], or to be a specific anomaly in development[5], or to represent the opposite of cornea plana[6]. The findings of bilateral keratoglobus in a father and bilateral keratoconus in his son suggest that keratoglobus may be closely related to keratoconus[6].
The aetiology of complicated microphthalmos is difficult to evaluate. Number of genetic factors may be responsible for the various lesions. In man, maternal infection such as rubella, X-radiation, Rh incompatability have been suggested as aetiololgical factors[6]. As the facilities for genetic studies are not available, the abnormal chromosomal pattern could not be determined and as such it is difficult to evaluate the aetiological factor in this case.
The genetic inheritance in microphthalmos may be autosomal dominant or autosomal recessive or sex linked recessive[6]. In the absence of involvement of family members in the previous generations and the occurance of an isolated affected sibship, particularly when there is consanguinity of parents, as in the present case, the condition could be one of the simple recessive type in its genetic transmission.
The corneal perforation following a minimal trauma has been described in keratoglobus[4],[10]. An unnoticed minimal trauma might be the cause of perforation of cornea in the present case. The basic factor responsible for corneal perforation in keratoglobus as suggested by Poole[13] is that, in thin globular cornea the radius of curvature is increased and its ability to withstand pressure is decreased.
| Summary | | |
A case of keratoglobus and microphthalmos associated with aural, genital and skeletal anomalies, in a new born female is described. Aetiology and genetic transmission of the above conditions are also discussed.
| References | | |
| 1. | Arkin, W., 1963, Amer. Jour. Ophthal., 58, 678.  |
| 2. | Begle, H.L., 1921, Amer. Jour. Ophthal., 4, 850. |
| 3. | Beitti, 1934. Bull. Oculist., 13, 153. |
| 4. | Biglan, A.W.. Brown, S. 1. and Johnson, B.L., 1977, Amer. Jour. Ophthal., 83, 225. |
| 5. | Cavera, V., 1950, Brit. Jour. Ophthal. 34,621. |
| 6. | Duke Elder, S. 1964, System of Ophthalmology, Vol. III, Part II, P. 488-495 and 508, Henry Kimpton, London. |
| 7. | Elschnig-cited by Duke Elder, S:, 1964. |
| 8. | Harimohan, Sen, D.K., Gupta D.K., 1969, Jour. All India Ophthal. Soc., 17, 103. |
| 9. | Harley, R.D., 1975, Paediatric Ophthalmology, 51, W.B. Saunders Company, Philadelphia. |
| 10. | Hymas, S., Dar, H. and Neumann, E., 1969, Brit. Jour. Ophthal., 53, 53. |
| 11. | Kulshershtha, O. P., Chhabra, H.N., Ratnavat, P.S. and Sandhya, M.C., 1975, East. Arch. Ophthal., 13, 81. |
| 12. | Mathew, M. and Agarwal, S., 1976, Ind. Jour. Ophthal. 28, 39. |
| 13. | Poole, B.A., 1973, N.Y. State Journal Med, 73, 1284. |
| 14. | Sen, D.K. and Thomas, A., 1966, Jour. All India Ophthal. Soc., 14, 258. |
| 15. | Von Hipple, E., 1934, A rch. f. Ophthal , 132, 256. |
| 16. | Walsh, F.B., 1957, Clinical Neuro-ophthalmology, 333, The Williams and Wilkins Company, Baltimore. |
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]
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