Bilateral congenital cystic eye: a rare case report.

Shaeeza Samreen1, Puneet Johri1


Congenital cystic eye is also known as anophthalmos with cyst. The orbit is filled by a cystic mass wherein there is no rudimentary eyeball [1]. Anophthalmia refers to the absence of ocular tissue in the orbit and it can be unilateral or bilateral. It may occur in isolation or as part of a syndrome. It usually occurs in association with other systemic malformations particularly involving cardiac, musculoskeletal and central nervous system [2]. Congenital microphthalmos and anophthalmos are rare conditions with prevalence rates of 1.4-3.5 per 10,000 births for microphthalmos and 0.3-0.6 per 10,000 births for anophthalmos (Table 1) [3, 4].

Table 1. Table 1. Clinical and pathological differential diagnosis of congenital cystic eye and microphthalmos with cyst [6].

[please click on the image to enlarge]

True or primary anophthalmos is extremely rare. Which is a result of failure of the optic vesicle to bud out from the cerebral vesicle wherein the optic nerves and tracts are usually absent [5]. Regression or degeneration of the optic vesicle results in consecutive or degenerative anophthalmos [5].

True anophthalmos refers to complete failure of outgrowth of the primary optic vesicle. When remnants of a malformed eye are present in the orbit the condition is called as extreme microphthalmos or clinical anophthalmos [5]. Anophthalmia / microphthalmia has complex aetiology with chromosomal, monogenic and environmental causes. Chromosomal duplications, deletions and translocations are implicated. Of monogenic causes only SOX2 has been identified as a major causative gene [2].

Patient description

A one month old male baby is brought to our hospital, presenting with inability to open both eyes since birth. The infant was born by normal spontaneous vaginal delivery at home to a 29 years old mother following a full term pregnancy wherein birth weight was not recorded, no vaccination given, no history of consanguinity. According to the mother pregnancy went without any kind of complications. This was a fourth pregnancy from healthy parents. The older three siblings are normal as alleged by the mother. There was no history of congenital infections like toxoplasma or rubella or any significant teratogenic drug intake during pregnancy. No history of fever, body rashes and no exposure to X-rays. She hasn’t taken any prenatal vitamins or any other medication, illicit drug, alcohol, or tobacco exposure.

On examination: Right eye (Fig. 1): presence of small palpebral fissure and mild conjunctival swelling. The socket appeared empty without any evidence or remnants of eye globe (protruding in between lids).

Figure 1. Right eye clinical picture.
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Eyelid findings in both eyes: closed palpebral fissures, foreshortening of the lids in all directions with inward folding of lid margins ̶ absent or decreased lid crease. Shallow conjunctival fornix, especially inferiorly.

Left eye (Fig. 2): small palpebral fissure with protruding conjunctival tissue in between the lids. Presence of multilobulated, undifferentiated cystic swelling, livid hemorrhagic cyst.

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Figure 2. Left eye clinical picture.
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The USG B scan of both eyes showed presence of multilobulated hypo-echoic cystic swellings without any evidence of well-formed globe structures. No calcific or bony lesions noted (Fig. 3).There was no associated dysmorphic facies or other neurological abnormalities. Visual prognosis, requirement of histopathology analysis and the need for aesthetic procedures for the same was explained to the mother, but the patient was lost to follow-up after the first visit.

Figure 3. USG B scan showing: (a) and (b) the right eye; (c) and (d) the left eye.
[please click on the image to enlarge]


Our patient presented with bilateral congenital cystic eye. Although anophthalmia is closely linked to genetic and familiar causes, our patient had no family history of similar condition. [2]

The newborn’s mother belongs to an underprivileged strata of the rural population, the maternal health during pregnancy, child birth and post-delivery is poor. The mothers of such background are vulnerable to infections and nutritional deficiencies.

The absence of antenatal care medication and antenatal scans need to be highlighted. Such mothers are prone to have Vitamin A deficiency and TORCH infections, which are one of the causes of anophthalmia / microphthalmia [7]. Investigations such as computed tomography and magnetic resonance imaging make it possible to investigate the associated malformations. In our observations, given the socio-economic difficulties of the parents the same could not be realized. Treatment for severe microphthalmia and anophthalmia are usually started within weeks of life by excision of the cyst followed by using conformers to enlarge the palpebral fissure, conjunctival cul-de-sac and orbit [8]. Orbital volume is replaced by using implants of progressively increasing size which stimulate expansion of the developing bony orbit, usually after six months of age [8]. When the orbit has developed adequately ocular prostheses are used and are changed regularly with further orbital expansion [9].


In this case report, we tried to report a rare case of bilateral congenital cystic eye. Several studies are still required to understand the spectrum of this complex condition, which is considered as one of the cause for childhood blindness.

Ultrasound has been a very important tool in the prenatal diagnosis of malformations, especially after the improvement in the quality of the images. Anophthalmia with cyst diagnosis can be made by two-dimensional (2D) ultrasonography when eyeballs and lens are absent, but when the foetal head position is unfavourable by the use of three-dimensional (3D) ultra-sonography we can get more information, which is key to early diagnosis [10]. Which in turn provide great help in counselling the parents and provide appropriate treatment options in early neonatal life.

This way we want to emphasize the importance of foetal screening during pregnancy in developing countries such as India.


[1] Mann I. Development Abnormalities of the eye. JB Lippincott Co., Philadelphia, 1957, pp. 66-9.
[2] Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis 2007; 2:47.
[3] Stoll C, Alembik Y, Dott B, et al. Epidemiology of congenital eye malformations in 131 760 consecutive births. Ophthalmic Paediatr Genet 1992; 13:179-86.
[4] Clementi M, Turolla L, Mammi I, et al. Clinical anophthalmia: an epidemiological study in northeast Italy based on 368 256 consecutive births. Teratology 1992; 46:551-3.
[5] Microphthalmos, Anophthalmos,Coloboma, and Nanophthalmos (Includes CHARGE Association) . Khan AO and Traboulsi EI (eds.) In: Compendium of Inherited Disorders and the Eye. Oxford University Press, 2016.
[6] Guthoff R, Klein R, Lieb WE. Congenital cystic eye. Graefes Arch Clin Exp Ophthalmol 2004; 242:268-71. DOI: 10.1007/s00417-003-0820-8
[7] Sushil K, Awasthi RT. Recurrent congenital anophthalmia-prevention by periconceptual Vitamin-A. Med J Armed Forces India 2000; 56:165-6. DOI:10.1016/S0377-1237(17)30140-5
[8] Clauser L, Sarti E, Dallera V, Galiè M. Integrated reconstructive strategies for treating the anophthalmic orbit. J Craniomaxillofac Surg 2004; 32:279-90. DOI: 10.1016/j.jcms.2004.04.010
[9] McLean C J, et al. The management of orbital cysts associated with congenital microphthalmos and anophthalmos. British J Ophthal 2003; 87: 860-3. DOI:10.1136/bjo.87.7.860
[10] Searle A, Shetty P, Melov SJ, et al. Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports. J Med Case Reports 2018; 12:250. DOI: 10.1186/s13256-018-1746-4

Conflict of interest: none declared.

Authors’ affiliations:
1 Sankara Eye Hospital, Kanpur, Uttar Pradesh, India.

Corresponding author:
Shaeeza Samreen
No.27 Berlie Street
Langford Town
Bangalore, 560025
Tel. 00919945206404
e-mail: shaeezas@gmail.com

To cite this article: Samreen S, Johri P. Bilateral congenital cystic eye: a rare case report. World J Med Images Videos Cases 2022; 8:e12-17.

Submitted for publication: 26 January 2022
Accepted for publication: 21 February 2022
Published on: 20 March 2022

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