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Year : 1977  |  Volume : 25  |  Issue : 2  |  Page : 31-37

Congenital lesions of the eye (an autopsy study)

Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India

Correspondence Address:
K Jayanthi
Jawaharlal Institute of Pastgraduate Medical Education and Research, Pondicherry-605006
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Source of Support: None, Conflict of Interest: None

PMID: 97213

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How to cite this article:
Jayanthi K, Aurora A L. Congenital lesions of the eye (an autopsy study). Indian J Ophthalmol 1977;25:31-7

How to cite this URL:
Jayanthi K, Aurora A L. Congenital lesions of the eye (an autopsy study). Indian J Ophthalmol [serial online] 1977 [cited 2022 Aug 19];25:31-7. Available from: https://www.ijo.in/text.asp?1977/25/2/31/31256

Table 2

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Table 2

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Table 1

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Table 1

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Congenital lesions found in the eye are in­numerable, but there are very few reports avail­able on the histopathological aspects on post­mortem eye balls[3],[14]. No information is available on the extent and nature of this problem in this country. Present study was undertaken to find out the pattern and frequen­cy of congenital lesions of the eye in 100 random pediatric autopsies.

  Materials and Methods Top

The eyeballs for the study were obtained from 100 pediatric postmortems carried out between September 1973 and October 1976. A detail maternal history regar­ding present and past pregnancies and family history was obtained from the case records.

The eyeballs were removed and immediately fixed in 300 ml of buffered neutral formalin for 48 hours. They were processed in graded alcohols and grossed while in 80% alcohol.

The gross examination of the eyeball included its horizontal, anteroposterior and vertical measurements, as well as measurements of horizontal and vertical dia­meters of the cornea. The length of the optic nerve and the diameter of the pupil were also recorded. Any external abnormality was noted. The eyeball was transil­luminated in a dark room to locate any lesion inside the globe. Finally the eyeball was cut anteroposteriorly in a horizontal plane above and below to obtain the central calotte which included the optic nerve. This calotte and the removed upper and lower parts of the eyeball were thoroughly examined segmentwise for any abnormality using magnifying hand lens and also under the dissecting microscope. The calotte was further processed in graded alcohols, cleared in chloroform and embedded in paraffin wax.

Sections were cut at 8-10 u and stained with haema­toxylin and eosin, Verhoeff's elastic tissue stain, Masson trichrome and Alcian blue (pH 2.5) periodic acid Schiff reaction combined stains, were also carried out accor­ding to standard procedure 12.

  Results Top

Seventy nine pairs of eyeballs showed the presence of a single or multiple lesions [Table - 1],[Table - 2].


Schwalbe's ring was observed in 3 mature infants (one male and 2 females). The other associated findings in the eyes of these cases included primary vitreous, persistent hyaloid artery, Lange's fold, extramedullary haemo­poiesis and retinal haemorrhage in varying combinations.

Pupillary membrane

Pupillary memberane was seen in 10 mature babies (5 males and 5 femalas) and 25 prema­ture babies (13 males and 12 females) one male infant (4 months old) and in 2 female infants (each 1 month old) either as an isolated finding or with other associated ocular findings. One mature dead born female baby showed pulmo­nary and adrenal haemorrhages. Primary vitreous was seen in 4 premature females and 1 premature male and in one female infant. 2 premature males and 1 premature female show­ed extramedullary haemopoiesis.

Lenticular contract with cornea [Figure l]

This was observed in 4 premature babies (3 males and I female). All the cases showed in addition persistent hyaloid artery. Other as­sociated ocular findings included retinal haemorrhages, primary vitreous, pupillary memberane and anterior synechiae.

Anterior synechiae either partial or com­plete was seen in 11 premature babies (5 males and 6 females) and in one female infant (1 month old) along with other associated ,sub ocular findings, which included pupillary memberane, Lange's fold, persistent hyaloid artery and primary vitreous. One newborn baby of 28-30 weeks gestation was a case of lissencephaly with pulmonary alveolar dysgenesis and showed persistent hyaloid and lenticular contract with cornea.

Primary vitreous

This was seen in one mature male and 15 premature cases (9 males and 6 females) in association with other ocular findings. It was also seen in one female infant (1 month old).

Anterior synechiae [Figure - 2]

Persistent hyaloid artery

Seven mature babies (3 males and 4 females) 20 premature babies (11 males and 9 females) and 2 female infants (1 month and 1½ months old respectively) showed the presence of this finding alone or with other associated ocular lesions. In all the cases Lange's fold was seen.

Retinal dysylasia [Figure - 3]

One mature female and 2 premature males had retinal dysplasia. The mature female baby showed subarachnoid and intracranial haemor­rhages. The associated ocular findings in this cases were Lange's fold and Schwalbe's ring. The premature cases showed in addition retinal haemorrhages, persistent hyaloid artery and a ciliary process on the iris in one case.

Retinal haemorrhages of varying degree were noted in 5 mature babies (3 males and 2 females) and 4 premature babies (2 males and 2 females). Four of these showed these haemor­rhages in both eyes.

Retrolentalfibroplasia [Figure - 5] and [Figure - 6]

A single premature female infant (1½ month old) showed retrolental fibroplasia. In addi tion this case showed persistent hyaloid vessf and Lang's fold.

This was seen in three mature babies (2 males and 1 females) and 4 premature babies (3 males and 1 female). In one mature male infant this was seen as an isolated finding. In the other mature baby there was in addition pupillary membrane, primary vitreous, persis­tent hyaloid, Schwalbe's ring and retinal haemorrhages. In the premature group there was in addition pupillary memberane, primary vitreous and Lange's fold in varying combina­tions.

Extramedullary haemopoiesis [Figure - 7]

Lange's fald

Eighteen mature babies (9 males and 9 females) and 27 premature babies (15 males and 12 females) showed this finding either as an isolated lesion or in various combinations with other ocular findings in both the mature and premature groups. One male infant (4 months old), one female infant (12 months old,) I male child (3 years old) and one female child (7 years old) also showed this finding.

  Discussion Top

Pupillary memberane is almost a constant feature in premature babies born before 32 weeks of intrauterine life. It is also present in about half of those born between 32-34 weeks' gestation. It usually disappears in all except in the very small prematurebabies (below 32 weeks gestation). In an infant born at 28 weeks it may persist for 6 weeks[10]. Pupillary mem­beranes have been noted in 95 percent of the newborn[5]. The persistent hyaloid artery is seen as a patent or obliterated blood vessel at the optic disc surrounded by glial cells and is referred to as Bergmeister papilla in the adult.

Seven mature and 20 premature cases showed the presence of persistent hyaloid artery, ten mature babies and 25 premature babies showed the presence of pupillary mem­berane. Our data shows the greater frequency of pupillary membrane in the premature than mature babies as quoted by other authors as wells[5],[10].

The cornea and the anterior stroma of the iris are developed from the mesoderm which develops in three waves[6]. A failure of differ­entiation of this mesoderm may lead to various anatomical connections between the iris and the cornea and constitute the abnormal anterior chamber. Extreme degrees of abnormalities in the anterior chamber and associated defects have been described[16]. Lack of formation of the angle was thought to be due to persistence of the mesoderm at the root of the iris and thereby nonseparation of the tissues leading to absence of angle[1]. Ida Man proposed the theory of cleavage leading to the atrophy of the mesoderm at the angle root and forma­tion of the angle.

In twelve cases in the present study, anteri­or synechiae were either complete or partial. They were found in the juxtapupillary zone in those with partial lesion. The iris stroma or the cornea did not show any other abnormality. The only abnormality seen was a nonseparation of the iris, thereby supporting the cleavage theory. There was no defect or discontinuity detected in the Descemet's membrane, a finding which has been dealt with extensively in con­genital corneal leukomas by Townsend[18].

In the four cases of contact of lens with the back of the cornea in the present studies, none showed loss or breaks in the Descemet's mem­brane. Though all these babies w ere premature, the lens had already nearly separated and Des­cemet's membrane was well formed. In one case papillary membrane was present. The absence of pupillary membrane between the lens and the cornea in three of our cases sug­gests that the anomaly is only a delayed sepa­ration of the lens from the cornea.

Retinal dysplasia had been described in association with a variety of both clinical and ocular abnormalities including cyclopia, micro­phthalmia, colobomas, hyperplastic primary vitreous, retinal detachment and other abnor­malities like polydactyly and central nervous system abnormalities. It has been seen cons­tantly in Trisomy 13-15 syndrome[11],[17]. Various etiological agents are incriminated including a viral etiology. A probable explanation for the occurence of this lesion is an over growth of the inner layer of the optic cup occuring at the time of closure of the embryonic cleft[11]. Retinal rosettes may be found in normal or deformed eyes. Teng and Katzin[5] found roset­tes in 24 normal eyes of 17 children upto the age of 7 years out of 72 eyes examined. In our series, retinal dysplasia was observed in 3 babies-mature female baby and 2 premature male babies. There was no other associated abnormality in any of them. Karyotyping could not be done to establish chromosomal abnor­mality.

The presence of retinal haemorrhage has been of great interest and has been correlated with various parameters[4],[7],[15]. However, these haemorrages are considered physiological as they tend to resolve within a few days[4],[15]. 9 out of 100 cases showed the presence of retinal haemorrhages. Of these 5 were newborn (3 males and 2 females) and 4 were deadborn (2 males and 2 females). Four of the 9 cases showed retinal haemorrhages in both eyes and were multiple. A detailed study of retinal haemorrhages is being reported elsewhere.

Retrolental fibroplasia is characterised by a cluster of capillaries arising in the nerve fibre layer and extending into the vitreous[2],[8]. Various causative factors have been incriminated including feeding of cow's milk, Vit.E deficiency, viral infections and lack of hormones in the infant. The association of oxygen with the pro­duction of the lesion and the direct relation­ship of the extent of the lesion to the eoncen­tration and duration of the oxygen therapy has been definitely proved[2]. The lesion in the pre­sent study was seen in a premature infant 12 months old who was given oxygen for five days.

Extramedullary haemopoiesis in the choroid is one of the sites in the premature and disa­ppears at birth. It may still persist in the mature eyes and in the connective tissues of the orbit[5]. These foci are found in the choroid, occasionally in the iris and in the primary vitreous surrounding the hyaloid artery. In the present study, while the presence of extramedullary haemopoiesis in the premature is a known finding, its presence in the mature baby remains unexplained as there was nothing suggestive in the clinical history or autopsy findings which could accound for its presence.

  Summary Top

Eyeballs obtained from the routine paedia­tric postmortem cases were studied for the occurrence of congenital lesions. Seventy nine out of 100 paediatric cases studied showed a spectrum of congenital anomalies. These inclu­ded pupillary membranes, anterior synechiae, retinal dysplasia, retinal haemorrhages and retrolental fibroplasia.

  References Top

Allen, L., Burian, H. M., Braley, A.E , 1955, Arch. Ophthal., 53, 783.  Back to cited text no. 1
Blodi, F.C., 1958, Prematurity in the causation of ocular anomalies in Systemic Ophthalmology. Edited by Arnold Sorsby, Butterworth & Co. p. 12-18.  Back to cited text no. 2
Buen, S.D., Velazques, T., 1962, Amer. Jour. Ophthal., 53, 315.  Back to cited text no. 3
Chace, R.R., Merrit, K.K. and Bellows, M. 1950, Arch. Ophthal., 44, 235.  Back to cited text no. 4
Duke-Elder, S.S. 1964. Sys. of Ophthal., Vol., III, Normal and abnormal development, Part II, Congenital deformities, Henry Kimpton.  Back to cited text no. 5
Duke-Elder, S.S. and Cook, C. 1963, Sys. Of Ophthal., Vol. III, Normal and abnormal deve­lopment, Part I, Embryology, Henry Kimpton.   Back to cited text no. 6
Giles, C.L. 1960. Amer.Jour. Ophthal., 49, 1005.   Back to cited text no. 7
Hogan, M.J., Zimmermann, L.E., 1962, Ophthal.path., An atlas and textbook, II edition, W.B. Saunders Company, page 511.  Back to cited text no. 8
Ida Mann, 1949, The development of the human eye, London, British Medical Association, Tavistock Square.  Back to cited text no. 9
Ida Mann, 1957, Developmental abnormalities of the eye, London, British Medical Association, Tavistock Square.  Back to cited text no. 10
Lahav, M., Albert, D.M. Wyand, S. 1973, Amer. Jour. Ophthal., 75, 648.  Back to cited text no. 11
Luna, C.G., 1968, Manual of histologic staining methods of the Armed Forces Institute of Pathology, 3rd edition. McGraw-Hill Book Company, New York.  Back to cited text no. 12
Manual of histologic staining methods of the Armed Forces Institute of Pathology, 2nd edi­tion, 1960. McGraw-Hill Book Company, New York.  Back to cited text no. 13
Okun, E., 1960, Amer. Jour. Ophthal., 50, 574-5.  Back to cited text no. 14
Planten, J. Th. and P.C.V.d. Schaaf, 1971, Ophthalmologica, 162, 213.  Back to cited text no. 15
Reese, A.B. and Ellsworth, R.M., 1966, Arch. Ophthal., 75, 307.  Back to cited text no. 16
Silverstein, A.M., Osburn, B.I., and Prendergest, R.A., 1971, Amer. Jour. Ophthal., 72, 13-21.  Back to cited text no. 17
Townsend, W.A., Font, R.L. and Zimmerman, L.E., 1974, Amer. Jour. Ophthal., 77, 192, 400.  Back to cited text no. 18


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7]

  [Table - 1], [Table - 2]


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