|Year : 1993 | Volume
| Issue : 4 | Page : 177-179
Microphthalmos with cyst : A clinical study
PK Agrawal, Hemant Kumar
Department of Ophthalmology, King George's Medical College, Lucknow, India
P K Agrawal
Department of Ophthalmology, King George's Medical College, Lucknow 226 003.
Source of Support: None, Conflict of Interest: None
Defects in closure of embryonic fissure and invagination of optic vesicle results in varied clinical presentation of microphthalmos with cyst. In our study, three patients had microphthalmos with cyst in one of their orbits. The cyst presented either as a swelling in the lower lid or as a sinus with purulent discharge associated with absent or small sized eyeball. The microphthalmic eye showed a spectrum of posterior segment abnormalities such as retinal disorganisation, gliosis, choroidal, and scleral coloboma. Microscopically, the cyst connected to the coloboma consisted of an outer layer of fibrovascular tissue and an inner gliotic neuroectodermal layer. The treatment consisted of excision of cyst alone or of microphthalmic eye with cyst. The use of conformers was mandatory after removal of cystic eyeball for near normal development of both orbits to maintain facial symmetry in our paediatric patients.
Keywords: Microphthalmos - Orbital cyst - Orbit
|How to cite this article:
Agrawal P K, Kumar H. Microphthalmos with cyst : A clinical study. Indian J Ophthalmol 1993;41:177-9
Defects in closure of embryonic fissure and invagination of optic vesicle results in congenital malformations of the eye which have varied clinical presentation and are often misdiagnosed.
A correlation of varied clinical presentations with the histopathological findings and their subsequent management has been done in this study.
| Case reports
Case 1. A 25-year-old man presented with progressive swelling of the left lower lid of one year duration. The left eyeball was absent since birth. The right eye was functioning normally. General physical examination was within normal limits. On external examination, the eyelids were normal but the left orbit appeared larger than the right, with irregular lower orbital margin. In the left orbit there was no visible globe but an obvious tense swelling persisted involving whole of the lower lid. It was brilliantly transilluminant and non-tender to touch. The functional right eye had microcornea [Figure - 1] and the fundus showed myopic degeneration.
A clinical diagnosis of congenital cystic eyeball was made and surgical'excision was done. Orbitotomy through inferior approach with subciliary incision was done and the cyst attached to orbital fat was removed. The large defect thus created was closed with dermofat grafting so as to avoid volume deficit. Expecting some amount of shrinkage in the graft, a larger than required dermofat graft was taken from the gluteal region and was fashioned. It was implanted in the orbit and the dermis was sutured to the undersurface of the conjunctiva as the extraocular muscles and rest of the anatomy of the orbit was distorted.
Gross Examination : A 4.5 x 4.5 cm cystic mass attached to orbital fat was removed [Figure - 2]. On sectioning the specimen, an underdeveloped eyeball with calcification was apparently visible in the vitreous cavity. A huge irregular swelling was seen arising from its under aspect. The cyst wall, on microscopic examination, consisted of outer collagenous connective tissue layer resembling the sclera lined by an inner neuroectodermal layer of variable thickness. In this neuroectodermal layer deposits of hemosiderin were seen. The diminutive eyeball showed gliotic retina and hyperplastic retinal pigment epithelium lining lips of scleral coloboma and extending a short distance into the attached cyst.
Case 2. A 6-year-old boy presented with a rapidly progressive swelling in the left lower lid since birth, associated with purulent discharge for the previous eight days [Figure - 3]. On examination, the child had microphthalmia with microcornea on the left side. There was no associated systemic abnormality.
The visual acuity in the right eye was 6/18 and the left eye had no perception of light. The right eye was normal clinically, but was myopic. The cornea of the left eye was 6 mm in horizontal diameter with superior and inferior scleralization [Figure - 4]. An obvious cystic mass was seen in left lower lid bulging into the lower fornix [Figure - 5]. It was non-tender and brilliantly transilluminant. A clinical diagnosis of microphthalmos with microcornea with orbital cyst in the left eye was made.
Orbitotomy through inferior approach was done to remove the cystic mass with purulent discharge attached to the eyeball at the lower posterior pole. The microphthalmic eye was dissected out and saved.
Gross Examination : A cystic mass measuring 4.5 x 5.0 cm was removed. The sclera of the eyeball showed a posterior inferior coloboma extending into the attached cyst. Microscopically, at the site of attachment of cyst to the eyeball gliotic retinal tissue was seen extending into the cyst. The thick fibrovascular outer layer continued posteriorly to surround the cyst which was lined by a variably thick layer of glial tissue.
Case 3. A 10-month-old boy was presented to us with a progressive swelling of left lower lid with the eyeball being absent since birth [Figure - 6]. On physical examination, the child exhibited mental retardation and poor physical development with delayed milestones.
Fixation was present in the right eye and the left eye was not fixating to light. The right eye was fully developed. In the left orbit, a large mass was seen within the eyelids making the lower lid more prominent than the upper lid. The structural details were grossly distorted on this side.
A clinical diagnosis of cystic eyeball was made. The cyst was surgically excised. A conformer was fitted in the left orbit.
A cystic mass filled with yellowish fluid was removed from the left orbit, on one end of which was attached a small distorted eyeball. Microscopically, the cyst was lined on the outside by a collagenous fibrovascular layer and on the inner side by a hypo-plastic neurolgial tissue of variable thickness.
Varied clinical presentations of microphthalmos with cyst should arouse suspicion in an individual with a small eyeball associated with visible or palpable mass behind the lower eyelid. True absence of eyeball (anophthalmos) being very rare, cases without clinically detectable ocular structures in the orbit are more likely to have either a congenital cystic eyeball or microphthalmos with cyst. ,
There is no established genetic transmission but sometimes familial occurrence is known. There is no predisposition for sex and laterality  In this series, all the three cases were seen in males and involved the left eye. Mental retardation and delayed milestones of development were associated in one patient.
Usually, the eyelids develop normally  The microphthalmic eye is often obscured within the orbit by conjunctival folds or by a large cyst. Extreme retraction of eyelid reveals uveal pigmentation which helps to locate the eyeball intraoperatively.
The size of the cystic component varies. It may be small enough to escape clinical detection (cases 1 and 2) or in extreme cases may lead to misdiagnosis of anophthalmos  The cyst produces a bluish bulge in lower lid. It may have cystic to firm consistency and may be brilliantly transilluminant. When infected it may present with rapid enlargement in size (case 3) or as a sinus with purulent discharge which may point out on a dependent lower lid (case 2). In extreme cases the cyst may grotesquely protrude between the eyelids (case 3)  It is usually located in the inferior orbit, since the embryonic fissure from which it arises is located inferiorly. In about 6% of cases it is present superiorly, either as a result of enlarged size or because it protruded from an atypical superior coloboma. ,
The findings on the contralateral side vary. The fellow orbit may be normal (case 2 and 3) or may have a microphthalmic eye with useful vision (case 1).
The congenital cystic eye is histopathologically similar to the cystic portion of microphthalmos with cyst.  Histopathologically, the cyst is a two-layered structure. The inner layer is composed of gliotic neuroretinal tissue that may show retinal architecture arrested at different stages of development. The outer layer is composed of vascularised connective tissue and occasionally contains cartilage. Rarely, connection of cyst with the central nervous system is seen. The optic stalk apparently develops enough to obliterate its cavity and to prevent leakage of cerebrospinal fluid after excision of the cyst. On biochemical analysis, the yellow fluid within the cyst resembles cerebrospinal fluid ,
Aspiration of cyst is the simplest mode of management but the cyst usually recurs. Repeated aspirations frequently produce permanent disappearance of cyst. Excision of cyst alone, if possible, may leave a cosmetically acceptable eye. Removal of the eye and cyst usually requires orbital or eyelid reconstruction for prosthetic fitting, and especially so when done in a young patient requiring orbital conformers for equal development of the two orbits. Orbital reconstruction may require filling up of the large orbital defect left after excision of the cyst. This is best achieved by putting in a dermofat graft prior to closure of the wound.
Kon-von Alpen CC, Manschot WA, Frederiks E et al. Microphthalmos and orbital cyst. Ophthalmologica. 167:389, 1973.
Yanoff M, Ballian LR, and Niederer BS. Ocular and cerebral abnormalities in Chromosome 18 deletion defect Am J Ophthalmol. 70:391, 1970.
Waring GO III and Roth AM. Clinicopathologic correlation of microphthalmos with cyst. Am J Ophthalmol. 82:714, 1976.
Ehlers N. Cryptophthalmos with orbito-palpebral cyst and microphthalmos (report of a bilateral case) Acta Ophthalmol. 44:84, 1966.
Weyman MF. Microphthalmos with cyst formation. Am J Ophthalmol. 8:214, 1925.
Ladenheim J and Metrick S. Congenital microphthalmos with cyst formation. Am J Ophthalmol. 41:1059, 1956.
May CH and Holden WA. A case of microphthalmos with upper lid cyst. Arch Ophthalmol. 35:424, 1906.
Dollfus MA, Marx P, Langlois J et al. Congenital cystic eyeball. Am J Ophthalmol. 66:504, 1968.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]