# Managing a Case of a Congenital Cystic Eyeball: Case Report with Review of Literature

Authors: Aashish Raj Pant; Rinkal Suwal; Purushottam Joshi; Santosh Chaudhary
Journal: Case Reports in Ophthalmological Medicine
 (2022)

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## Abstract

A congenital cystic eyeball is an extremely rare condition, with only 52 cases reported in the literature to date. An orbital cyst replaces the eyeball which occurs due to the complete or partial failure in invagination of the primary optic vesicle during the fourth week of gestation. We discuss a case of a congenital cystic eyeball in a 14-year-old female who presented to us for a cosmetic blemish due to a large swelling in the right eyelid with the absence of a right eyeball since birth. She underwent removal of the cyst followed by an orbital implant and later prosthesis. Diagnosis of the congenital cystic eyeball was made based on the clinical and ultrasound B-scan features, intraoperative findings, and histopathology report. This article adds one more case to the existing literature on the congenital cystic eyeball. Orbital implant with prosthesis after excision of the cyst provided definitive diagnosis and a good cosmetic outcome in our case.


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## Body

## 1. Introduction

The congenital cystic eyeball (CCE) was first reported by Taylor and Collins in 1906 [1] and later explained in detail by Mann in 1939 [2]. Mann also coined the term “anophthalmos with cyst” for the congenital cystic eyeball [3]. A complete or partial failure in invagination of primary optic vesicle leads to the development of congenital cystic eyeball [4, 5]. Noninvagination of the optic vesicle takes place in the middle of 2 mm and 7 mm phases of the embryonic development which usually occurs during the fourth week of gestation. The cyst which replaces the eye is formed due to the failure of the anterior primary optic vesicle to involute. It should be differentiated from microphthalmos with cyst which occurs due to the failure of fetal fissure closure at 7-14 mm phase, presents as a cyst in the anterior and inferior part of the orbital cavity, and is associated with a microphthalmic colobomatous eye. Cases of CCE are remarkably rare. To date, only 52 cases of congenital cystic eyeball have been reported in the literature [5–12]. We discuss a case of a congenital cystic eyeball in a 14-year female and also describe the clinical features, diagnostic tools, differentials, and the management approach for such cases through an extensive literature review.


## 2. Case Presentation

A 14-year female presented with a complaint of cosmetic disfigurement caused by a large swelling in the right eye (RE) since birth which was gradually increasing with her age. The patient was aware of no vision from that eye. There was no history of perinatal complications or consanguineous marriage. On examination, the vision in RE was no perception of light (NPL) whereas the vision in the left eye (LE) was 1/60 on the Snellen distant visual acuity chart. RE examination revealed a large cystic swelling predominantly in the lower eyelid but no visible eyeball in the palpebral aperture (Figure1). The swelling was single, soft, smooth, bluish-tinged, nontender, nonpulsatile, and brilliantly transilluminating (Figure 1(b)). The bony orbital rim was normal. Examination of the LE suggested a microcornea, inferior corneal scar, iris coloboma, and chorioretinal coloboma involving the optic disc and macula (Figure 1). The patient underwent B-scan ultrasonography (USG) which demonstrated a large cyst in the right bony orbit with no evidence of a well-formed eyeball. Typically, a stump of the optic nerve-like structure was seen in the posterior aspect of the cyst (Figure 1(c)). A provisional diagnosis of CCE was made based on the clinical and radiological findings. Pediatrician consultation was done, and neuroimaging was performed to rule out systemic associations especially intracranial abnormalities, which was normal. The patient and her parents were counseled regarding the nil visual prognosis and were advised for surgery. The patient had the cyst removed and an orbital ball implant and a conformer placed, and inferior fornix was reconstructed using sutures. The cyst was sent for histopathological examination which revealed an irregular cyst lined externally by a connective tissue layer and internally by glial tissues (Figure 1(d)) without a histologically identifiable eyeball, which confirmed the diagnosis of the congenital cystic eyeball. She was prescribed an ocular prosthesis after 6 weeks of surgery.Figure 1
(a) RE congenital cystic eyeball in a 14-year female: LE microcornea with inferior scar. (b) Cyst shows a positive transillumination test. (c) B-scan USG of the RE showing a stump of optic nerve-like structure in the posterior aspect of a large cyst. (d) Histopathology of the excised cyst showing cyst lined by neuroglial tissue. No specific remnants of the eye could be identified.
(a)(b)(c)(d)


## 3. Discussion

A congenital cystic eyeball occurs because of a developmental anomaly occurring during the third week of embryogenesis. An arrest in the invagination of the primary optic vesicles during the 2 mm-7 mm stage is attributed to this rare congenital anomaly [5]. Though the etiology of CCE is unknown, some authors have related it to an inflammatory cause due to the presence of inflammatory cells in the histopathological picture of the cystic eyeball [5].Cases are usually unilateral, although few bilateral cases have been described in the literature. A case of bilateral congenital cystic eyeball was reported by Sacks and Linderberg. In two cases reported by Hayashi et al., one had bilateral involvement although the nature of the lesion was not established [13]. The patients usually present with a swelling in the eyelid of the involved eye since birth. However, the cyst may not be evident at birth in some cases. Such patients present with an absence of the eyeball and later with a cystic swelling when the cyst progressively enlarges due to the continuous production of fluid into the cyst probably from the neuroglial tissues. This fluid can be dark viscous, serosanguineous, or proteinaceous [13, 14], but the fluids usually have similar biochemical properties as the serum [15].Diagnostic workup for a case of CCE starts from the examination of the eyes and orbits and extends to the whole body to rule out systemic associations which may be life-threatening. In infants, the cyst can be examined properly using eyelid retractors, such as Desmarre’s, to look for the presence of a microphthalmic eye which is the most important differential diagnosis. Where congenital cystic eyeballs have the complete absence of a globe, microphthalmos with cyst usually has a small eyeball and the cyst is attached to the sclera or choroid [11, 16]. Incomplete closure of the fetal cleft leads to microphthalmos with cyst which often has coloboma of uveal tissue, lens, and retina. Cysts are generally placed in the inferior orbit. Inversely, a congenital cystic eyeball typically causes the upper eyelid to bulge, and there is the presence of a pedicle. However, there are some exceptions where the lower eyelid bulges in a congenital cystic eyeball [13, 17]. In our case, the cyst was located in the inferior part of the orbital cavity presenting as a swelling in the lower eyelid.The fellow eye in our case had microcornea with an inferior corneal scar and, iris, and fundal coloboma. As anophthalmos and microphthalmos (with or without cyst) and uveal coloboma—all are congenital abnormalities occurring due to the failure of invagination of optic vesicle at various stages of development of ocular structures, these are often found in association. Tucker et al. found abnormal second eye in 21% cases of unilateral anophthalmos without a cyst [18]. Although the data with anophthalmos with cyst is limited, we can take reference from the largest case series of anophthalmos with cyst by McClean et al. [19]. In their case series of 34 cases of orbital cysts associated with anophthalmos or microphthalmos, they have described 14 cases of anophthalmos with cyst wherein 5 cases were unilateral with fellow eye normal, 3 cases had microphthalmos in fellow eye with or without uveal coloboma, 3 cases had anophthalmos without a cyst in fellow eye, and the remaining 3 had bilateral anophthalmos with cyst. There were 2 cases described in the case series where the fellow eye had both microphthalmos and uveal coloboma similar to our case. Similarly, Hayashi et al. [13] reported a case of congenital cystic eyeball with microphthalmos in the fellow eye. Hence, our case report is rarer in view of involvement of fellow eye with microphthalmos and uveal coloboma.Radiological investigations such as B-scan ultrasonography (USG), computed tomography (CT) scan, or magnetic resonance imaging (MRI) form the logical next step in the diagnosis of CCE. B-scan USG is usually readily available at the ophthalmology outpatient department and gives valuable information about the cyst, absence or presence of an eyeball, and an associated optic nerve-like stump. Cysts may be replaced partially or even completely by neuroglial tissues [20]. Baghdassarian et al. found a 2 mm round structure posteriorly, resembling an optic nerve at the posterior aspect of a cyst [21]. We also found a small round stump of an optic nerve-like structure at the posterior part of the cyst in our case on B-scan USG. Studies have revealed the presence of patent optic stalk [22]; however, there have been reports of nonpatent [23] or even absence of a posterior stalk [13]. Reports with CT scan or MRI frequently reveals a cystic mass in the orbital cavity which might be unilateral [24] or bilateral [20, 25]. Microphthalmos and any optic nerve stalks will also be evident on CT or MRI. Usually, extraocular muscles are absent and cystic mass probably has a soft tissue component depending upon the amount of glial proliferation [4, 25].The mainstay of management of the congenital cystic eyeball is excision of the cyst followed by an orbital implant. Morselli et al. reported a case of the congenital cystic eyeball where they followed up the case serially from 20 weeks of gestation till birth [26]. The case was managed by a multidisciplinary team of ophthalmologists, plastic surgeons, pediatricians, and neurosurgeons. Guthoff et al. reported a congenital cystic eye in a 1-month healthy infant, where during excision of the mass, yellow serous fluid was released [27]. A spherical silicone orbital implant was inserted. The optic nerve was not identified in this study. Holland et al. removed the cyst in a case of the congenital cystic eyeball and replaced it with a bioceramic implant [12]. Our case, an early teenage girl, underwent excision of the orbital cyst with an orbital implant and conformer by an oculofacial plastic surgeon. After 6 weeks, an ocular prosthesis was prescribed for cosmetic rehabilitation.An irregularly shaped cyst with a connective tissue layer externally and an inner neuroglial tissue layer is the common histopathological picture in CCE. There is no presence of epithelial linings of cysts in the CCE and microphthalmos with cyst, and thus, they are similar in histopathology [28]. However, the absence of a small developed eyeball and the lack of surface ectodermal elements are the main features for differentiating CCE from microphthalmos with a cyst. Our case had features suggestive of CCE without an identifiable eyeball on histopathology.Although CCE usually does not have associated nonocular abnormalities, some bilateral congenital cystic eyes [17, 29] and unilateral congenital cystic eye [28] with nonocular anomalies have also been reported. Some of these may have intracranial abnormalities such as agenesis of the corpus callosum, midbrain deformity, and basal encephalocele [4, 13]. Furthermore, grey matter heterotopias with corpus callosum agenesis have also been illustrated in MRI [7]. Studies have described the presence of intracranial abnormalities in CCE which required ventriculoperitoneal shunting [4, 11, 25, 29, 30]. Hence, cases of microphthalmia and anophthalmia with or without a cyst need radiological investigation especially neuroimaging to rule out systemic associations such as intracranial abnormalities. Ragge et al. in their review of management of anophthalmia and microphthalmia have described the frequent association with ocular abnormalities and infrequently with nonocular abnormalities such as CHARGE syndrome [31]. Similarly, Das et al. have recently reported a case of congenital cystic eyeball with associated intracranial abnormalities in a 15-day-old girl [32]. A full list of cases reported till date is shown in Table 1 which demonstrates the frequency and the type of the ocular and systemic associations. Our case was reviewed by a pediatrician before the surgery which revealed no neurological abnormality. Studies to date have not demonstrated any hereditary associations or chromosomal defects for the congenital cystic eyeball [4, 13, 17, 30].Table 1
A table of all 52 cases reported till date with ocular and systemic associations.
S noAuthorTitleYear of publicationNo. of casesAge of onsetAffected eyeFindingsRELESystemic association1Rice et al. [33]Case of congenital cysticEye and accessory limb of the lower eyelid1966OneEight monthsLENormalCystic swelling which distended the upper lid, while projecting from the left lower lid was a rudimentary accessory limbMultiple dermal appendages on the face inferotemporal to the left orbit, anterior to the tragus of the ear and an appendage present on the upper part of the neck2Dollfus et al. [28]Congenital cystic eyeball1968OneAt birthLENormalA plum sized mass in the left orbit distending the upper lid and projecting between the eyelids).Malformation of the left nostril and small cutaneous tumors of the left upper lid.3Sacks and Lindenberg [29]Efferent nerve fibers in the anterior visual pathwaysIn bilateral congenital cystic eyeballs1969One6 yearsBESomewhat firm, spherical mass measuring approximately 10 mm in diameterSomewhat firm, spherical mass measuring approximately 10 mm in diameterSeverely retarded and had other congenital anomalies consisting of saddle nose, harelip, cleft palate, and bifid left thumb4Helveston et al. [23]Congenital cystic eye1970OneOne day oldLENormalMass protruding between the left eye lids—5Baghdassarian et al. [21]Congenital cystic eye1973OneTen days oldLENormalCystic mass in the left orbit, bulging forward, stretching the upper eyelid, and displacing the lower eyelid downward—6Waring et al. [30]Clinicopathologic correlation of microphthalmos with cyst1976OneNew bornRERE cystic eyeballNormalMild microcephaly, severe bilateral cleft lip and palate with absent philtrum; microphallus with left hydrocele; decreased neurologic tone; and hyperconvex fingernails on short stubby fingers7Pillai and Sambasivan [25]Congenital cystic eye-a case report with CT scan1987OneTwo monthsRECystic eyeNormal—8Gupta et al. [34]Congenital cystic eyeball1990OneOne day oldLENormalLarge cystic mass bulging forwards stretching the upper lidMicrocephaly9Pasquale et al. [4]Congenital cystic eye with multiple ocular and intracranial anomalies1991OneNew bornLEPersistent hyperplastic primary vitreousLeft orbital mass protruding through the palpebral fissureCerebrocutaneous abnormalities consisting of agenesis of the corpus callosum, midbrain deformity, malformed sphenoid bone, right upper eyelid coloboma, and a left periocular hamartoma10Goldberg et al. [17]Bilateral congenital ocular cysts∗1991OneOne month oldBECystic eyeCystic eyeMild facial clefting (median cleft lip and cleft palate) and basal cephalocele11Mansour and Li [15]Congenital cystic eye1996OneOne day oldRECongenital cystic eyeNormalHoloprosencephaly and tetralogy of Fallot12Albernaz et al. [16]Imaging findings in patients with clinical anophthalmos1997One——Congenital cystic eyeAnophthalmos1 case out of reported 8 cases had congenital cystic eyeball. Systemic association noted in bilateral anophthalmos cases12Hayashi et al. [13]Congenital cystic eye: report of two cases and review of the literature1999TwoCase 1: 13 monthsCase 2: 2 weeksCase 1: LECase 2: LEMicrophthalmosNormalCystic eyeCystic eye—13Gupta et al. [20]Congenital cystic eye with multiple dermal appendages: a case report2003OneOne day oldLENormalLarge orbital mass in the left orbit that bulged forwards and stretched the eyelids—14McClean et al. [19]The management of orbital cysts associated with congenital microphthalmos and anophthalmos2003Fourteen—RE: 5LE: 6BE: 324-month female, left eye cyst right eye microphthalmos, systemically associated with oculo-cerebro-cutaneous syndrome30-month female, patient had unilateral right eye cyst, no systemic associations12-month male with both eye cyst and no systemic associations11-month male with left eye cyst with no systemic association50-month female with left eye cyst, right microphthalmos with colobomatous iris and retina and developmental delay3-month female with left eye cyst with no systemic associations1-month female right eye cyst with cleft lip and palate, atrial septal defect, and choanal atresia6-month male left eye with no systemic associations2-month female with right eye cyst and left eye retinal coloboma and no systemic associations204-month male left eye cyst and right congenital nystagmus2-month female both eyes cyst with congenital hip dislocation2 months male both eye cyst with no systemic association1-month male right eye with fistula-in-ano2-month male right eye with no systemic association15Robb and Anthony [14]Congenital cystic eye: recurrence after initial surgical removal2003OneSix weeksRELarge right orbital cyst, which pushed the upper eyelid forward and filled the interpalpebral spaceNormal—16Guthof et al. [27]Congenital cystic eye2004One4 yearsREPresented with complete ptotic right upper lid without levator function and displacement of the prosthesis due to the enlarged cystic massNormal—17Chaudhry et al. [11]Congenital cystic eye with intracranial anomalies: a clinicopathologic study2007TwoCase 1: 15 daysCase 2: six monthsCase 1: RECase 2: LECase 1: RE cystCase 2: high myopia in RELE anophthalmic socket without cystLE cystBoth cases had intracranial abnormalities requiring ventroperitoneal shunt and one case had hemifacial ipsilateral hypotony18Gupta et al. [7]Congenital cystic eye: Features on MRI2007One5 yearsLENormalPresented with a left orbital mass—19Quintyn-Ranty et al. [35]Congenital cystic eye2007OneNeonatalLENormalTomodensitometry revealed a solid, cystic orbital mass, with no calcification or bone lysis—20Kavanagh et al. [8]Detection of a congenital cystic eyeball by prenatal ultrasound in a newborn with Turner’s syndrome2007OneAt birthREPresented with RE anophthalmos with cystNormalTurner syndrome21Subramaniam et al. [36]Prepucial skin graft for forniceal and socket reconstruction in complete cryptophthalmos with congenital cystic eye2008One23 days oldREComplete cryptophthalmos and congenital cystic eyeNormal—22Gangadhar et al. [6]Congenital cystic eye with meningocele2009One2 years sRERE cystNormalMeningocoele23Mehta et al. [37]Congenital cystic eye: a clinicopathologic study2010One13 yearsLENormalA mass bulging through the ptotic left upper eyelidOn opening the palpebral aperture, a white sclera like structure could be seen beneath the conjunctiva with absence of other anterior segment structuresAssociated with ectopic glial tissue in the brain24Tsitouridis et al. [10]Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies2010One3 monthsLENormalMass in the left orbit and the dermal appendages on the ipsilateral side of the face—25Morselli et al. [26]Congenital cystic eye: from prenatal diagnosis to therapeutic management and surgical treatment2011One20-week gestation female fetusRECongenital cystic eyeColoboma and corneal dermoidLeft brachycephaly26Pinto et al. [38]Congenital cystic eye with corpus callosum hypoplasia: MRI findings2011One3 monthsLENormalCystic eyeCorpus callosum hypoplasia27Doganay et al. [39]Bilateral congenital cystic eye posterior to the lower eyelid: case report2012OneOne day oldBECystic eyeCystic eye—28Singer et al. [9]Congenital cystic eye in utero: novel prenatal magnetic resonance imaging findings2013One26-week gestationLENormalCystic eyeLeft frontal dysplasia, colpocephaly, and agenesis of the corpus callosum and septum pellucidum discovered in utero via ultrasonography29Cefalo et al. [40]Congenital cystic eye associated with a low-grade cerebellar lesion that spontaneously regressed2014One6 month oldLENormalCystic eyeCerebellar lesion accidentally detected at magnetic resonance imaging30Holland et al. [12]Congenital cystic eye with optic nerve2015One3 days oldRECystic eyeNormal—31Souhail et al. [41]Congenital cyst eye, one clinical case2015One7 yearsREFleshy mass in the right eye, the upper lid appeared ballooned and a reddish pink mass was bulging outNormal—32Yan et al. [42]Rare orbital cystic lesions in children2015One6 monthsLENormalPtosis and protrusion of left upper eyelid. A large well-defined soft massComplete agenesis of the corpus callosum, hydrocephaly, and asymmetry of the ventricular system33Musa et al. [43]Congenital cystic eye: a clinicopathological review2018One7 monthsRECystic eyeNormal—34Stahnke et al. [44]Management of congenital clinical anophthalmos with orbital cyst: a Kinshasa case report2018One14 monthsLENormalA transilluminating cyst protruding out of the left orbit—35Harakuni et al. [45]A rare case of left sided anophthalmos with congenital cystic eyeball with right sided microphthalmos2019One19 yearsLEMicrophthalmos, with horizontal nystagmus and healed perforated corneal ulcerAnophthalmos—36Das et al. [32]Congenital cystic eyeball with intracranial anomalies: a rare entity2021One15 daysLENormalCystic eyeDysgenesis of corpus callosum with dorsal interhemispheric cyst communicating with the third ventricleClinical assessment and radiological investigations aid in the confirmation of the diagnosis of CCE. However, a definitive diagnosis can only be made through histopathology. Removal of the cyst followed by an orbital implant, conformer, and later on ocular prosthesis seems to be the appropriate management approach for CCE.



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