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| ARTICLE |
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| Year : 1969 | Volume
: 17
| Issue : 3 | Page : 103-108 |
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Congenital microphthalmos with orbital and orbitopalpebral cysts
Harimohan1, DK Sen1, DK Gupta1, AL Aurora2
1 Department of Ophthalmology, Irwin Hospital, New Delhi, India
2 Department of Pathology, Maulana Azad Medical College, New Delhi, India
| Date of Web Publication | 10-Jan-2008 |
Correspondence Address:
Harimohan
Department of Ophthalmology, Irwin Hospital, New Delhi
India
 Source of Support: None, Conflict of Interest: None  | Check |
How to cite this article:
Harimohan, Sen D K, Gupta D K, Aurora A L. Congenital microphthalmos with orbital and orbitopalpebral cysts. Indian J Ophthalmol 1969;17:103-8 |
Orbito-palpebral cyst generally results when a large knuckle of retina protrudes into the surrounding tissue in the region of the foetal cleft. The term "colobomatous cyst" is, therefore, preferred. The cyst is usually of a dimension greater than that of the eye itself which is generally microphthalmic and sometimes malformed (Duke-Elder [4] ).
Such a condition was first accurately discriminated by Arlt. [1] Pathological investigations since then have substantiated his hypothesis that the cyst is associated with defective closure of the foetal cleft. In the process of forming an eye, the foetal fissure of the optic cup closes during the 5th and 6th weeks (10-18 mm stage of embryo). During this phase any injurious influence to the embryo may give rise to an excessive and premature growth of retinal tissues which herniate through the foetal cleft and continue to proliferate. Baurmann [2] postulated the essential cause of such a protrusion to be an active proliferation of the ectodermal elements at the lips of the fissure.
Two varieties of this condition are known
i) a well formed, but usually small and grossly abnormal eye is discernible along with the cyst.
ii) Where no eye is discernible clinically and the subject appears anophthalmic.
We are presenting herewith 4 cases of congenital microphthalmos with orbital or orbito-palpebral cysts because of the histopathological study available in three of them. Two cases were bilateral.
| Case Reports | |  |
The cases attended the ophthalmic O.P.D. of Irwin Hospital, New Delhi between 1959-67. All the cases were born at full term. Their birth weight was within normal limits. Delivery was normal in all the cases. No history of any maternal illness during pregnancy especially German measles could be elicited. There was no history of any congenital anomaly in the family.
Case 1.
V.P.. 6 months, Hindu male child was brought to the Ophthalmic O.P.D. of Irwin Hospital, on 4th March, 1967 with the complaints of a mass protruding in between the lids, on the right side. A small mass was noted at birth which was steadily growing in size
On examination the child was found to be otherwise healthy. No other congenital anomaly could be detected. The eye lids were normal, held open and stretched by a large cystic mass in the right orbit [Figure - 1], which was found to be 4-5 cm in diameter, cystic in nature and transluminous. No eye ball was clinically discernible. The left eye was perfectly normal. Skiagram of the right orbit showed optic foramina to be of normal size. Skiagram of the skull did not reveal anything significant.
The cystic mass was removed from the orbit on 11th March, 1967 [Figure - 2]. On incising the cyst, clear straw coloured fluid came out. The inner surface of the cyst was lined by an infolded greyish white membrane. A small blackish area was observed on one side.
On histopathological examination the cyst wall was found to be composed of bundles of collagen fibres. Its continuity with the sclera, however, could not he demonstrated. Lining the cyst was the inverted retinal tissue showing a near nuclear-free zone (representing the nerve fibre layer) towards the cyst cavity [Figure - 3]. The nuclear free zone was thickest where the nuclear zone was poorly formed. At only a few places the nuclear zone showed a tendency to form inner and outer nuclear zones with the outer plexiform layer interposed [Figure - 4]. There was no pigment epithelium between the outer wall and the inverted retinal tissue. There was no indication of formation of choroid. At places calcospherites had formed in the retinal tissue indicating a degenerative change [Figure - 5].
Case 2.
S.L. 1 year Hindu female child was brought to the Ophthalmic O.P.D. on 7th May, 1959 with the complaint of a swelling in the region of the lower lid of the right eye since birth which was increasing gradually.
General and systemic examination did not reveal anything significant,
On local examination the lower lid of the right eye was seen bulged forward by a mass. The palpebral fissure was narrow. The lids were relatively immobile. On opening the lids, a small grossly deformed eyeball with a rudimentary cornea could also be visualized. The mass was about 3 cm. in diameter, cystic, slightly mobile, extending deep in the orbit and transluminous. The cystic mass along with the eye-ball was removed under general anesthesia [Figure - 6]. On cutting the mass, dark yellowish coloured fluid came out. The cut surface revealed the mass to be partially cystic and partially solid. Thickness of the lining varied from place to place.
On histopathological examination the retinal cyst was found composed of a fibrous wall and some disorganized inverted retinal tissue. The outer wall of the cyst was not continuous with the sclera. The retinal tissue showed a non-nuclear zone towards the fibrous wall and a nuclear zone towards the cyst [Figure - 7]. There was no pigment epithelium or choriocapillary formation.
Case 3.
Pritam, 10 months, Hindu male child was brought to us on 10th June, 1961 with the complaints of not opening the eyes and bulging of both lower lids since birth. The bulging was more on the left side [Figure - 8]. On examination the findings were the same on both sides. The mass was cystic and transluminous. No eye was discernible. Its presence was not revealed on palpation. Transillumination, however, revealed a small dark shadow. Palpation was, therefore attempted after puncturing the cyst and draining the fluid and this time a small but firm mass measuring about 1.5 cm. X 1.5 cm. was felt in the posterior wall of the cyst. Skiagram of both the orbits showed normal optic foramina. The cyst from the right side was removed under general anesthesia on 20th June, 1961. On removal of the cyst a very small firm mass representing the eyeball could be seen attached to it [Figure - 9].
Histopathological examination showed the cyst wall to be made of bundles of collagen fibres, whose continuity with the sclera again could not be demonstrated. The wall was lined at places by a cuboidal to columnar single cell thick non-pigmented layer [Figure - 10]. This layer became continuous with inverted retinal tissue characterized by a nearly non-nuclear zone resting on the sclera and a nuclear zone facing the lumen of the cyst [Figure - 11]. Wherever the epithelium was single cell thick, the blood vessels were in fair number, congested and dilated while in the region of the inverted retina, the capillary formation was scanty.
Case 4.
P.C., Hindu male child, aged 6 months was brought to the eye O.P.D. with similar complaints. Examination revealed an orbito-palpebral cyst associated with a small, deformed eye on each side. The parents of the child did not agree for removal of the cysts.
| Discussion and Comments | | |
Congenital microphthalmos with orbital or orbito-palpebral cyst is a rare condition. In those cases where the eye is very small and the cyst is large, the condition resembles anophthalmos so closely that differentiation becomes truly difficult. However, the following procedures might help in arriving at a diagnosis.
(i) Palpation may reveal a small firm mass in the posterior wall of the cyst.
(ii) Transillumination-may reveal a small dark shadow.
(iii) Roentgenography-may demonstrate a patent optic foramen. In a true anophthalmos, the optic nerve is almost invariably absent and the optic foramen is either narrow or obliterated.
Ladenheim and Metrick [9] advocated puncture of the cyst and drainage of the fluid before attempting palpation for the presence of the eyeball in such cases. This was tried successfully in one of our cases where the eyeball was not discernible and it could not be otherwise palpated.
Hereditary nature of pure microphthalmos (nanophthalmos) is well recognised but it is debatable whether colobomatous cysts are hereditary in man. Bell [3] in her extensive review of the literature found no family wherein transmission was recorded. On the other hand in the experimental stock of von Hippel, [5] Koyanagi [7] and von Szily [10] a strong hereditary element was abundantly evident. It is interesting to recall here the report (Sen and Thomas [9] ) where is mentioned that a child who was the only issue of his parents, was nanophthalmic on both the sides but his father had been having microphthalmos with orbito-palpebral cyst on the right side and normal sized eyeball with typical coloboma of the iris on the left side. However, the cases recorded here were all sporadic. Some of these sporadic cases may be secondary to exogenous factors such as infection (German measles, syphilis and so forth) of the mother and the embryo during early pregnancy. Though meticulous history taking did not reveal any such factor operating in any of our cases, a sub-clinical infection cannot be ruled out. One should also remember that mutation and other random factors not well understood might as well produce the same abnormality.
The outer lining of such cyst is composed of condensed collagen bundles. Its continuity with the sclera of the microphthalmic eye can at times be demonstrated. However, every effort to show the continuity of the outer layer of the cyst with the sclera failed in all the three cases examined histologically. Obviously the connection between the cyst and the eyeball had been completely lost. The choroid may extend a little way into the cyst but is more often absent.
The inner lining is formed by various derivatives of the optic vesicle and in some cases elements of both the layers are distinguishable. One of the features of these cysts is the occurrence of doubling and inversion of the retina (Duke-Elder [4] ). This could be demonstrated in all the cases examined histologically. In one case (No. 1) the retinal tissue showed a feeble attempt at formation of inner and outer nuclear zones, the latter being formed very poorly. Degenerative changes are not known to occur commonly in these cysts. Occurrence of such changes with calcification has, therefore, made the first case of this series all the more interesting.
These cysts have a tendency to grow and consequently requires treatment. Though paracentesis is sometimes advocated it usually gives very temporary relief. Kleberger and Stolowsky [6] advocated injection of sclerosing solutions after doing paracentesis but that has only occasionally been effective. Most practical treatment, therefore, is complete excision of the cyst, as incomplete removal may lead to recurrence. The cases therefore should be followed up for some time. There was no recurrence in any of our cases.
| Summary | | |
Four cases of congenital microphthalmos with orbital ~or orbito-palpebral cysts are described because of rarity of the condition.
2. Two cases were unilateral and two were bilateral,
3. Histopathological examinations showed the typical picture of the abnormality with doubling and inversion of the retina. One case showed degenerative changes with calcification which is considered very rare.
Hereditary factors in such cases are discussed.
| References | | |
| 1. | Arlt; Auz, dcrkk. Ges. d. Aerztc ZLI Wien, 445, (1858) cited by Duke-Elder in 4.  |
| 2. | Baurmann; Klin Mbl. Augenh. 71, 227, (1923) cited by Duke-Elder, in 4. |
| 3. | Bell Julia (1932) cited by Duke-Elder, in 4. |
| 4. | Duke-Elder, S.: System of ophthalmology. Vol. III, part 2 P. 481, Henry Kimpton, London (1964). |
| 5. | Hippel von: Graefe's Arch. Ophthal, 55, 507 (1905) cited by Duke-Elder in 4. |
| 6. | Kleberger and Stolowsky; Klin, Mbl, 133, 218 (1958) Cited by Duke-Elder in 4. |
| 7. | Koyanagi - V. Graefes, Arch. Ophthal. 104, 1, (1921) cited by DukeElder, in 4. |
| 8. | Ladenheim, J. and Metrick, S.: Congenital microphthalmos with cyst formation - Amer. J. Ophth. 41, 1059, (1956). |
| 9. | Sen, D. K. and Thomas, A.: Micropthalmos with cyst. J. All India Ophth. Soc. 14, 258, 1966. |
| 10. | Szily von - Z. Anat. Entwickl, 74, 1, (1924), cited by Duke-Elder, in 4. |
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8], [Figure - 9], [Figure - 10], [Figure - 11]
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