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Cystic eyeball
Specialty	Medical genetics

Congenital cystic eye (also known as CCE or cystic eyeball) is an extremely rare ocular malformation where the eye fails to develop correctly in utero and is replaced by benign, fluid-filled tissue.^[1] Its incidence is unknown, due to the very small number of cases reported. An audit by Duke-Elder of the medical literature from 1880 to 1963 discovered only 28 cases. The term was coined in 1937 by the renowned ophthalmologist Ida Mann.^[2]

Embryologically, the defect is thought to occur around day 35 of gestation, when the vesicle fails to invaginate. Dysgenesis of the vesicle later in development may result in coloboma, a separate and less severe malformation of the ocular structures.

CCE is almost always unilateral, but at least 2 cases of bilateral involvement have been described. Patients may also present with skin appendages attached to the skin surrounding the eyes. Association with intracranial anomalies has been reported.^[3]

Treatment

Treatment of CCE is usually by enucleation, followed by insertion of an ocular implant and prosthesis.

References

^ Gupta, P; Malik, KP; Goel, R (Jul 3, 2003). "Congenital cystic eye with multiple dermal appendages: a case report". BMC Ophthalmology. 3: 7. doi:10.1186/1471-2415-3-7. PMC 166276. PMID 12841852.
^ Pillai, AM; Rema; Sambasivan, M (Mar–Apr 1987). "Congenital cystic eye--a case report with CT scan". Indian Journal of Ophthalmology. 35 (2): 88–91. PMID 3450626.
^ Tsitouridis, I; Michaelides, M; Tsantiridis, C; Spyridi, S; Arvanity, M; Efstratiou, I (June 2010). "Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies". Diagnostic and Interventional Radiology (Ankara, Turkey). 16 (2): 116–21. doi:10.4261/1305-3825.DIR.2054-08.1. PMID 19847771. S2CID 10299449.

External links

Congenital malformations and deformations of eyes

Adnexa

Eyelid	Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon
Lacrimal apparatus	Congenital lacrimal duct obstruction

Globe

Entire eye	Anophthalmia (Cystic eyeball, Cryptophthalmos) Microphthalmia
Lens	Ectopia lentis Aphakia
Iris	Aniridia
Anterior segment	Axenfeld–Rieger syndrome
Cornea	Keratoglobus Megalocornea Cornea plana 1 Cornea plana 2
Retina	Megalopapilla
Other	Buphthalmos Coloboma (Coloboma of optic nerve) Hydrophthalmos Norrie disease

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