From the Paediatric Ophthalmology and Ophthalmoplasty Services (MM, NP, KG, MSB, SG), and the Department of Ocular Pathology (S. Sen), Dr. Rajendra Prasad Centre for Ophthalmic Sciences; and the Department of Radio Diagnosis (S. Sharma), All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Neelam Pushker, MD, 472, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi–110029, India. E-mail: firstname.lastname@example.org
Mann described congenital cystic eye as an extremely rare ocular malformation1 caused by complete or partial failure of the invagination of the primary optic vesicle that gives rise to a unilocular or multilocular cystic structure.2 In this anomaly, there is no evidence of normal ocular structures, such as cornea, lens, ciliary body, choroid, or retina. The condition typically is not diagnosed until there is proven absence of a microphthalmic eye on surgical exploration or histopathology.
This report describes a rare case of congenital cystic eye associated with multiple cysts and its clinical, imaging, surgical, and histopathological features.
A 13-year-old girl presented with absence of a formed left eye since birth (Fig. 1A). Prenatal history revealed a non-specific low-grade fever in the mother in the first trimester. The child was born at full term through a normal vaginal delivery. Her two elder siblings (one boy and one girl) were normal. Physical and mental development were normal. Systemic examination was normal with no neurological abnormality.
Figure 1. (A) Front View of Patient at Presentation Showing Bulge in Left Upper Eyelid with Completely Closed Palpebral Aperture. (B) Post-Contrast Axial and (C) Coronal CT Scan Showing a Multi-Cystic Left Intraorbital Mass Causing Expansion of the Bony Orbit with a Few Specks of Calcification (arrow). Small Enhancing Solid Component is Presumably Embryonic Neuroglial Tissue. Note the Left Lateral Rectus Muscle (arrow). (D) T1-Weighted and (E) T2-Weighted Sagittal Magnetic Resonance Images Show a Septum (arrow) Dividing the Mass into Anterior and Posterior Aspects. An Optic Nerve-Like Structure (arrow) is Seen Posteriorly in Relation to the Mass.
On ophthalmic examination, best-corrected visual acuity was 6/6 in the right eye and no light perception in the left eye. The left eyebrow was thicker and elevated compared with the right eye. There was 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. Results of examination of the right eye were normal. Computed tomography scan revealed left orbital expansion with a multicystic mass measuring 4.5 × 2.6 cm with a few specks of calcification (Figs. 1B and 1C). The mass extended posteriorly toward the orbital apex, with no intracranial involvement. Magnetic resonance imaging (MRI) showed a large multi-cystic lesion in the intraconal space with a small extraconal component. The inferior and lateral rectus muscles and normal lacrimal gland could be identified in relation to the mass (Figs. 1D and 1E). The mass was hypointense on T1-weighted and hyperintense on T2-weighted images with isointense thin wall and septations. There was presence of heterotopic gray matter in the subependymal region of the left ventricle.
Surgically, transconjunctival anterior orbitotomy (Fig. 2) revealed an ill-defined mass in the subconjunctival space. Inferior and lateral rectus muscles could be identified. Further dissection revealed orbital fat in association with the mass. Multiple cysts with sclera-like wall were seen converging on a point, where some pigmented tissue was seen. Four such masses were removed. Attempts to dissect further led to leaking of clear fluid from the posterior part of the mass, which was aspirated and sent for analysis. The leaking point was then ligated with 6-0 polyglactin, leaving the posterior portion of the mass in the orbit, and the conjunctiva was closed. Inferior fornix formation sutures were given for better retention of the conformer. An ocular prosthesis was recommended for the patients at 6 weeks.
Figure 2. (A) Intraoperative Photographs of Subconjunctival Sclera-Like Structure with Absent Normal Eyeball. (B) Hooked Lateral Rectus Muscle (arrow). (C) Multilayered Anterior Cyst Wall Revealed on Further Dissection (arrow). (D) Opened up One Loculi of the Cystic Structure with Dark Pigmented Structure Representing Rudimentary Uveal Tissue (long Arrow). Note the Xanthochromic Fluid Coming Out of the Cyst (small Arrow). (E) The Remaining Posterior Mass that Was Covered with Conjunctival Tissue. (F) Conformer in Place Along with Superior Fornix Formation Sutures.
The fluid aspirated was not cerebrospinal fluid, per biochemical analysis.
Gross examination of the excised orbital mass consisted of four soft tissue lesions, the largest measuring 3 × 2 cm and the smallest 0.8 × 1.0 cm (Figs. 3A–3C). Two of these masses were smooth cystic and the other two were firm and white with focal brownish areas. Light microscopic examination revealed fibrous tissue in the cyst wall similar to sclera (Fig. 3D). Neuroglial tissue as evidenced by glial fibers with focal calcification and areas suggestive of primitive neural retina were also seen (Fig. 3E). There was also primitive choroid (Fig. 3F) in the form of uveal pigment containing vascular tissues. Smooth muscle fibers akin to rudimentary ciliary body were also noted. However, there was no evidence suggestive of surface ectodermal elements or other anterior segment structures such as lens or cornea.
Figure 3. (A and B) Gross Appearance of the Cystic Masses Shows Whitish Sclera-Like Wall (arrow) in Association with Black Areas (uveal Pigment) and (C) the Solid Component Had a Variegated Appearance. (D) Low-Power View Shows Fibrous Cyst Wall Along with Blood Vessels. Inset Shows Uveal Pigment (arrow) Present Focally (hematoxylin–Eosin, Original Magnification ×100). (E) Higher Magnification Shows Neuroglial Tissue Filling the Cystic Cavity. Inset Shows Calcification (arrow) (hematoxylin–Eosin, Original Magnification ×400). (F) Rudimentary Choroid Represented by Vascularized Tissue in Association with Uveal Pigment (arrow) (hematoxylin–Eosin, Original Magnification ×200).
Congenital cystic eye occurs due to a developmental arrest between the 2- and 7-mm stages of embryological growth, which leads to the failure of invagination of the primary optic vesicle. It is usually lined by neuroglial tissue with absence of normal ocular structures. The most important differential diagnosis in such cases is microphthalmos with cyst, which occurs when the detrimental event takes place between the 7- and 14-mm stages, leading to failure of closure of the fetal fissure.2,3 Although congenital cystic eye and microphthalmos with cyst both present during early childhood, there are a few clinical and histopathological differences. In most cases of congenital cystic eye, the orbital cyst bulges more toward the upper eyelid. In microphthalmos with cyst, it bulges toward the lower eyelid because the cyst is attached to the inferior portion of the globe. Histopathologically, there is evidence of eyeball development in microphthalmos with cyst, which is either small or rudimentary with the presence of cornea, iris, ciliary body, lens, vitreous, choroid, and retina, whereas there is a lack of surface ectodermal elements in congenital cystic eye except in a few cases, where rudimentary lens, retinal pigment epithelium, iris, ciliary processes, and primitive choroid have been reported.3
Congenital cystic eye usually presents at birth or may become apparent later in childhood with varied clinical and microscopic appearances.3,4 The congenital cystic eye may be solid or cystic. The cyst may be single or multiple, may vary in size, or may be filled with neuroglial tissue.4 The wall of the congenital cystic eye is composed of fibrous connective tissue lined by neuroglial tissue and there is lack of ocular structures derived from surface ectoderm such as cornea or lens.4,5
Baghdassarian et al.4 reported a case of congenital cystic eye that had an anteroposterior septum with presence of dysplastic retina, which is considered evidence of partial invagination of the optic vesicle. The presence of smaller indentations and multiple cysts is thought to be secondary to repeated attempts at invagination of the optic vesicle.4,6 These findings also were seen in our case on MRI and histopathology, making it similar to their case. Calcification reported earlier3 was also present in our case. Hence, our case represents a congenital cystic eye in which there is evidence of partial invagination.
A congenital cystic eye may have a normal or anomalous extraocular muscle surrounding it and the eyelids are usually normal.5 In the current case, the extraocular muscles were intraoperatively identified separately from the cyst wall.
The size of the cyst is believed to be related to the patency of the stalk. However, Helveston et al. found a non-patent posterior stalk.5 The fluid from the cavity has been reported to be xanthochromic and contain immature retinal cells. The stalk-like structure seen posteriorly on imaging has been described earlier and is known to be composed of astrocytes.4,7 There was no intracranial communication of the cyst and the fluid aspirated was not cerebrospinal fluid on biochemical analysis.
Ocular associations such as microphthalmos with cyst, persistent hyperplastic primary vitreous in the fellow eye, skin tags, dermal appendages, and eyelid coloboma may also be found along with the condition. Systemic associations include facial clefting, saddle nose, malformation of the nostrils, and other cranial and neurological abnormalities.8 In our case, heterotopic glial tissue was found intracranially, which is a rare association.7
Etiologically, no hereditary tendency has been established but environmental influences and inflammation may have a role.2 Imaging is an important adjunct but surgical exploration and histopathology are diagnostic.
- Mann I. A case of congenital cystic eye. Trans Ophthalmol Soc Aust. 1939;1:120–124.
- Duke-Elder S. Normal and abnormal development: congenital deformities. In: Duke Elder S. System of Ophthalmology, Vol. III, Part 2. London: Henry Kimpton; 1963:451–453.
- Hayashi N, Repka MX, Ueno H, Illiff NT, Green WR. Congenital cystic eye: a report of two cases and review of literature. Surv Ophthalmol. 1999;44:173–179. doi:10.1016/S0039-6257(99)00084-3 [CrossRef]
- Baghdassarian SA, Tabbara KF, Matta CS. Congenital cystic eye. Am J Ophthalmol. 1973;76:269–275.
- Helveston EM, Malone E Jr, Lashmet MH. Congenital cystic eye. Arch Ophthalmol. 1970;84:622–624.
- Pillai AM, RemaSambasivan M. Congenital cystic eye: a case report with CT scan. Indian J Ophthalmol. 1987;35:88–91.
- Gupta R, Seith A, Guglani B, Jain TP. Congenital cystic eye: features on MRI. Br J Radiol. 2007;80:e137–e140. doi:10.1259/bjr/31817019 [CrossRef]
- Pasquale LR, Romayananda N, Kubacki J, Johnson MH, Chan GH. Congenital cystic eye with multiple ocular and intracranial anomalies. Arch Ophthalmol. 1991;109:985–987.