Congenital Cystic Eyeball*

Dollfus, M A; Marx, Paul; Langlois, J.; Clément, Julien; Forthomme, J

doi:10.1016/0002-9394(68)91537-7

Cited by 32 publications

(31 citation statements)

References 1 publication

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“…7 Congenital cystic eye is histopathologically similar to the cystic portion of microphthalmos with cyst. 8 There are a few differentiating features between these malformations. In most congenital cystic eyes, the cyst is centrally placed in the orbit or may bulge toward the upper eyelid more.…”

Section: Discussionmentioning

confidence: 99%

“…Associated eyelid abnormalities are accessory limb, skin tags, a notch, and periocular dermal appendages on the same side and colobomatous eyelid defect on the opposite side of cystic eye. 3,8,10,11 Reported non-ocular abnormalities are facial clefting, saddle nose malformation of nose, choanal atresia, and malformed sphenoid bone, multiple punched-out lesions of scalp and face agenesis of the corpus callosum, basal cephalocele, electroencephalographic abnormal signs in region of Rolandic area, midbrain deformity, microphallus with hydrocele, hypoconvex fingernails on short stubby fingers, bifid thumb and ventroperitoneal shunts. Non-ocular abnormalities are more common in bilateral involvement, 12,13 Although bilateral congenital cystic eye was present in our case, ocular and non-ocular abnormalities were not detected.…”

Section: Discussionmentioning

confidence: 99%

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Bilateral Congenital Cystic Eye Posterior to the Lower Eyelid: Case Report

Doğanay¹,

Alkan²,

Çankaya³

et al. 2012

Turkiye Klinikleri J Med Sci

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1118ongenital cystic eye results from invagination failure of optic vesicle between the second and fourth weeks of gestation. 1,2 It is an extremely rare condition. The clinical appearance suggests an absent eye that is replaced by a thin-walled cyst of varying size. The cyst may have a bluish appearance and is usually centrally placed within the orbit. Associated ocular abnormalities include periocular skin appendages and contralateral microphthalmos with cyst.3,4 Congenital cystic eye must be differentiated from microphthalmos with cyst. Differentiation may be achieved with computerized tomography (CT), magnetic resonance imaging (MRI), or both.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Bilateral Congenital Cystic Eye Posterior to the Lower Eyelid: Case Report

Doğanay¹,

Alkan²,

Çankaya³

et al. 2012

Turkiye Klinikleri J Med Sci

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“…Children with this anomaly may be healthy or have associated abnormalities including facial cleft, cleft lip and palate, skin tags, notch, and periocular dermal appendages on the same side as the congenital cystic eye, a colobomatous eyelid defect on the opposite side, choanal atresia, saddle nose, malformation of the nostril, multiple punched-out lesions of the scalp and face, electroencephalographic abnormal signs in Rolandic area, microphallus with hydrocele, tetralogy of Fallot, hypoconvex fingernails on short stubby fingers, and bifid thumb (6,8,9,(11)(12)(13)(14)(15)(16). Intracranial anomalies associated with congenital cystic eye are described in only a few papers, probably reflecting absence of advanced neuroimaging in the older cases rather than lack of intracranial anomalies.…”

Section: Discussionmentioning

confidence: 99%

Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies: report of a case

Tsitouridis

Michaelides²,

Tsantiridis³

et al. 2008

Diagn Interv Radiol

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116C ongenital cystic eye, known also as anophthalmos with cyst, is an extremely rare congenital anomaly, first described by Mann in 1939 (1). Pathogenetically, it results from an arrest in the invagination of the primary optic vesicle between the 2-mm and 7-mm stages of fetal development (2-5). Herein we present the findings of radiography, ultrasonography (US), and magnetic resonance imaging (MRI) in a unique case of congenital cystic eye associated with dermal appendages and intracranial congenital anomalies in a 3-month-old boy. Case reportA 3-month-old boy presented to our department for investigation of a large mass in the left orbital region, which had been present since birth. The boy was well developed and was otherwise in good health. Results of screening hematology and blood biochemistry tests were within normal limits. In addition to the lesion extruding from the left orbit, a few dermal appendages of the left half of the face were also noted (Fig. 1).The boy was delivered by caesarian section in the 38th week of pregnancy (because of maternal history of previous caesarian section), with a birth weight of 2800 g. There were no complications during pregnancy or delivery. The parents were healthy and unrelated, with no history of illness or drug ingestion during pregnancy. No family history of developmental abnormalities was mentioned by the parents, who also had a healthy 2-year-old boy. Ultrasonography during pregnancy was not performed, so the lesion was unanticipated at birth.Physical examination demonstrated a large mass protruding from the left orbit. Both eyelids were stretched, covering the lesion. The lower eyelid was reddish and hyperemic. The mass was soft, non-tender, nonpulsatile, and cystic in consistency; the size did not change during crying. Ophthalmological evaluation of the right eye did not demonstrate any pathological findings. Systemic evaluation (except for the brain) did not reveal other abnormalities, including congenital heart disease.Radiographs of the skull revealed a soft tissue mass of the left orbit with expansion and remodeling of the superior and lateral bony walls of the orbit (Fig. 2). No abnormalities of the chest or abdomen were noted on radiographs.US of the left orbit demonstrated a mainly cystic lesion with a maximum diameter of about 6 cm. Within the cyst, there were a few septa; there was also a solid component with a diameter of about 2.5 cm with internal small cystic areas, and arterial and venous flow signals. No eye globe was identified in the left orbit (Fig. 3). There were no US abnormalities in the abdomen.MRI of the orbits and the head demonstrated the lesion as well as abnormalities of the brain. The lesion was mainly cystic, with internal septa and a solid intracystic component which contained smaller cystic areas, ABSTRACT Congenital cystic eye (anophthalmia with cyst) is an extremely rare anomaly discovered at birth with few reported cases in the literature, resulting from partial or complete failure during invagination of the primary optic vesicle...

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“…They felt it was probably due an extensive glial proliferation. The compartments of the cysts may be filled with fluid of albuminous nature, or they may be replaced by marked glial and neuroglial proliferation [3][4][5].…”

Section: Commentsmentioning

confidence: 99%

“…There is speculation about inflammation [1][2][3], circu latory disturbances [2], and hereditary in fluences [3], Although François [8] felt that autosomal dominant inheritance of isolated colobomatous microphthalmos is well estab lished, an autosomal recessive pattern has also been found [9], Up to date about 20 cases of cystic eye or colobomatous crystic eyeball have been re ported in children and infants, and several histopathologic studies have been done [1][2][3][4][5][6][7]. Case 1 in this report was an unusual occur rence of this anomaly in an adult.…”

Section: Commentsmentioning

confidence: 99%

Intraocular and Extraocular Colobomatous Cysts in Adults

Awan¹

1986

Ophthalmologica

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A 29-year-old woman had a colobomatous multiloculated cystic left eyeball. None of the normal structures of the globe were discernable by clinical examination. The cyst had been present since birth and had not grown in size since early childhood. Another patient, a man of 73, had an intraocular colobomatous cyst occupying the temporal half of the large choroidal bridge coloboma in his left eye. This cyst was partially filled with shimmering crystalline fluid. This patient had bilateral open-angle glaucoma which had caused advanced damage to the optic nerve in the structurally normal right eye. It is interesting that glaucoma did not affect the left eye with choroidal coloboma and intraocular colobomatous cyst, which had normal vision. The author thinks that ectatic sclera in the area of coloboma might have protected the eye from elevated intraocular pressure.

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Congenital Cystic Eyeball*

Cited by 32 publications

References 1 publication

Bilateral Congenital Cystic Eye Posterior to the Lower Eyelid: Case Report

Bilateral Congenital Cystic Eye Posterior to the Lower Eyelid: Case Report

Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies: report of a case

Intraocular and Extraocular Colobomatous Cysts in Adults

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