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

Table 1

A table of all 52 cases reported till date with ocular and systemic associations.

S no	Author	Title	Year of publication	No. of cases	Age of onset	Affected eye	Findings
							RE	LE	Systemic association
1	Rice et al. [33]	Case of congenital cystic; Eye and accessory limb of the lower eyelid	1966	One	Eight months	LE	Normal	Cystic swelling which distended the upper lid, while projecting from the left lower lid was a rudimentary accessory limb	Multiple 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 neck
2	Dollfus et al. [28]	Congenital cystic eyeball	1968	One	At birth	LE	Normal	A 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.
3	Sacks and Lindenberg [29]	Efferent nerve fibers in the anterior visual pathways; In bilateral congenital cystic eyeballs	1969	One	6 years	BE	Somewhat firm, spherical mass measuring approximately 10 mm in diameter	Somewhat firm, spherical mass measuring approximately 10 mm in diameter	Severely retarded and had other congenital anomalies consisting of saddle nose, harelip, cleft palate, and bifid left thumb
4	Helveston et al. [23]	Congenital cystic eye	1970	One	One day old	LE	Normal	Mass protruding between the left eye lids	—
5	Baghdassarian et al. [21]	Congenital cystic eye	1973	One	Ten days old	LE	Normal	Cystic mass in the left orbit, bulging forward, stretching the upper eyelid, and displacing the lower eyelid downward	—
6	Waring et al. [30]	Clinicopathologic correlation of microphthalmos with cyst	1976	One	New born	RE	RE cystic eyeball	Normal	Mild microcephaly, severe bilateral cleft lip and palate with absent philtrum; microphallus with left hydrocele; decreased neurologic tone; and hyperconvex fingernails on short stubby fingers
7	Pillai and Sambasivan [25]	Congenital cystic eye-a case report with CT scan	1987	One	Two months	RE	Cystic eye	Normal	—
8	Gupta et al. [34]	Congenital cystic eyeball	1990	One	One day old	LE	Normal	Large cystic mass bulging forwards stretching the upper lid	Microcephaly
9	Pasquale et al. [4]	Congenital cystic eye with multiple ocular and intracranial anomalies	1991	One	New born	LE	Persistent hyperplastic primary vitreous	Left orbital mass protruding through the palpebral fissure	Cerebrocutaneous abnormalities consisting of agenesis of the corpus callosum, midbrain deformity, malformed sphenoid bone, right upper eyelid coloboma, and a left periocular hamartoma
10	Goldberg et al. [17]	Bilateral congenital ocular cysts	1991	One	One month old	BE	Cystic eye	Cystic eye	Mild facial clefting (median cleft lip and cleft palate) and basal cephalocele
11	Mansour and Li [15]	Congenital cystic eye	1996	One	One day old	RE	Congenital cystic eye	Normal	Holoprosencephaly and tetralogy of Fallot
12	Albernaz et al. [16]	Imaging findings in patients with clinical anophthalmos	1997	One	—	—	Congenital cystic eye	Anophthalmos	1 case out of reported 8 cases had congenital cystic eyeball. Systemic association noted in bilateral anophthalmos cases
12	Hayashi et al. [13]	Congenital cystic eye: report of two cases and review of the literature	1999	Two	Case 1: 13 months; Case 2: 2 weeks	Case 1: LE; Case 2: LE	Microphthalmos; Normal	Cystic eye; Cystic eye	—
13	Gupta et al. [20]	Congenital cystic eye with multiple dermal appendages: a case report	2003	One	One day old	LE	Normal	Large orbital mass in the left orbit that bulged forwards and stretched the eyelids	—
14	McClean et al. [19]	The management of orbital cysts associated with congenital microphthalmos and anophthalmos	2003	Fourteen	—	RE: 5; LE: 6; BE: 3	24-month female, left eye cyst right eye microphthalmos, systemically associated with oculo-cerebro-cutaneous syndrome; 30-month female, patient had unilateral right eye cyst, no systemic associations; 12-month male with both eye cyst and no systemic associations; 11-month male with left eye cyst with no systemic association; 50-month female with left eye cyst, right microphthalmos with colobomatous iris and retina and developmental delay; 3-month female with left eye cyst with no systemic associations; 1-month female right eye cyst with cleft lip and palate, atrial septal defect, and choanal atresia; 6-month male left eye with no systemic associations; 2-month female with right eye cyst and left eye retinal coloboma and no systemic associations; 204-month male left eye cyst and right congenital nystagmus; 2-month female both eyes cyst with congenital hip dislocation; 2 months male both eye cyst with no systemic association; 1-month male right eye with fistula-in-ano; 2-month male right eye with no systemic association
15	Robb and Anthony [14]	Congenital cystic eye: recurrence after initial surgical removal	2003	One	Six weeks	RE	Large right orbital cyst, which pushed the upper eyelid forward and filled the interpalpebral space	Normal	—
16	Guthof et al. [27]	Congenital cystic eye	2004	One	4 years	RE	Presented with complete ptotic right upper lid without levator function and displacement of the prosthesis due to the enlarged cystic mass	Normal	—
17	Chaudhry et al. [11]	Congenital cystic eye with intracranial anomalies: a clinicopathologic study	2007	Two	Case 1: 15 days; Case 2: six months	Case 1: RE; Case 2: LE	Case 1: RE cyst; Case 2: high myopia in RE	LE anophthalmic socket without cyst; LE cyst	Both cases had intracranial abnormalities requiring ventroperitoneal shunt and one case had hemifacial ipsilateral hypotony
18	Gupta et al. [7]	Congenital cystic eye: Features on MRI	2007	One	5 years	LE	Normal	Presented with a left orbital mass	—
19	Quintyn-Ranty et al. [35]	Congenital cystic eye	2007	One	Neonatal	LE	Normal	Tomodensitometry revealed a solid, cystic orbital mass, with no calcification or bone lysis	—
20	Kavanagh et al. [8]	Detection of a congenital cystic eyeball by prenatal ultrasound in a newborn with Turner’s syndrome	2007	One	At birth	RE	Presented with RE anophthalmos with cyst	Normal	Turner syndrome
21	Subramaniam et al. [36]	Prepucial skin graft for forniceal and socket reconstruction in complete cryptophthalmos with congenital cystic eye	2008	One	23 days old	RE	Complete cryptophthalmos and congenital cystic eye	Normal	—
22	Gangadhar et al. [6]	Congenital cystic eye with meningocele	2009	One	2 years s	RE	RE cyst	Normal	Meningocoele
23	Mehta et al. [37]	Congenital cystic eye: a clinicopathologic study	2010	One	13 years	LE	Normal	A mass bulging through the ptotic left upper eyelid; On opening the palpebral aperture, a white sclera like structure could be seen beneath the conjunctiva with absence of other anterior segment structures	Associated with ectopic glial tissue in the brain
24	Tsitouridis et al. [10]	Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies	2010	One	3 months	LE	Normal	Mass in the left orbit and the dermal appendages on the ipsilateral side of the face	—
25	Morselli et al. [26]	Congenital cystic eye: from prenatal diagnosis to therapeutic management and surgical treatment	2011	One	20-week gestation female fetus	RE	Congenital cystic eye	Coloboma and corneal dermoid	Left brachycephaly
26	Pinto et al. [38]	Congenital cystic eye with corpus callosum hypoplasia: MRI findings	2011	One	3 months	LE	Normal	Cystic eye	Corpus callosum hypoplasia
27	Doganay et al. [39]	Bilateral congenital cystic eye posterior to the lower eyelid: case report	2012	One	One day old	BE	Cystic eye	Cystic eye	—
28	Singer et al. [9]	Congenital cystic eye in utero: novel prenatal magnetic resonance imaging findings	2013	One	26-week gestation	LE	Normal	Cystic eye	Left frontal dysplasia, colpocephaly, and agenesis of the corpus callosum and septum pellucidum discovered in utero via ultrasonography
29	Cefalo et al. [40]	Congenital cystic eye associated with a low-grade cerebellar lesion that spontaneously regressed	2014	One	6 month old	LE	Normal	Cystic eye	Cerebellar lesion accidentally detected at magnetic resonance imaging
30	Holland et al. [12]	Congenital cystic eye with optic nerve	2015	One	3 days old	RE	Cystic eye	Normal	—
31	Souhail et al. [41]	Congenital cyst eye, one clinical case	2015	One	7 years	RE	Fleshy mass in the right eye, the upper lid appeared ballooned and a reddish pink mass was bulging out	Normal	—
32	Yan et al. [42]	Rare orbital cystic lesions in children	2015	One	6 months	LE	Normal	Ptosis and protrusion of left upper eyelid. A large well-defined soft mass	Complete agenesis of the corpus callosum, hydrocephaly, and asymmetry of the ventricular system
33	Musa et al. [43]	Congenital cystic eye: a clinicopathological review	2018	One	7 months	RE	Cystic eye	Normal	—
34	Stahnke et al. [44]	Management of congenital clinical anophthalmos with orbital cyst: a Kinshasa case report	2018	One	14 months	LE	Normal	A transilluminating cyst protruding out of the left orbit	—
35	Harakuni et al. [45]	A rare case of left sided anophthalmos with congenital cystic eyeball with right sided microphthalmos	2019	One	19 years	LE	Microphthalmos, with horizontal nystagmus and healed perforated corneal ulcer	Anophthalmos	—
36	Das et al. [32]	Congenital cystic eyeball with intracranial anomalies: a rare entity	2021	One	15 days	LE	Normal	Cystic eye	Dysgenesis of corpus callosum with dorsal interhemispheric cyst communicating with the third ventricle