Congenital cystic eye: features on MRI

Seith, Ashu; Guglani, Bhuvnesh; Jain, TP

doi:10.1259/bjr/31817019

Cited by 10 publications

(13 citation statements)

References 4 publications

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“…Extraocular muscles may be difficult to differentiate. Other associated intracranial anomalies may be also demonstrated by MRI (2)(3)(4)(5).…”

Section: Discussionmentioning

confidence: 96%

“…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. Associated intracranial anomalies include malformation of the sphenoid bone, agenesis of the corpus callosum, colpocephaly, gray matter heterotopia, holoprosencephaly, basal encephalocele, microcephaly, midbrain deformities and anomalies of the central visual pathways (2,3,8,9,(11)(12)(13)(14)17). The contralateral eye in most cases is normal, although a case of high myopia, a case of microphthalmos with cyst, and a case of non-persistent hyperplastic primary vitreous of the contralateral eye have been reported (2,11,13).…”

Section: Discussionmentioning

confidence: 99%

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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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“…Extraocular muscles may be difficult to differentiate. Other associated intracranial anomalies may be also demonstrated by MRI (2)(3)(4)(5).…”

Section: Discussionmentioning

confidence: 96%

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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“…The next layer represents the outer layer of the cyst and is composed of dense fibrous connective tissue, which may be vascularised. The cystic cavity is lined by neuroglial tissue within which aggregates of immature retinal tissue, referred to as rosettes, may be found 3 4. The cuboidal epithelium in this layer is described as resembling ependymal epithelium, and is thought to be responsible for the fluid within the cyst, although this fluid is biochemically dissimilar to CSF 8.…”

Section: Discussionmentioning

confidence: 99%

Congenital cystic eye with optic nerve

et al. 2015

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Congenital cystic eye (CCE) is a rare condition caused by failure of invagination of the optic vesicle resulting in a persistent cyst replacing the eye. An associated optic nerve attached to the cyst is a rarely reported phenomenon that has been sparsely described histologically, with no immunohistochemistry reported previously. The authors present a case of CCE with optic nerve tissue inserting into the cyst, and present the histological and immunohistochemical findings.

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“…Total surgical resection remains the treatment of choice for theses lesions. ymicrogyria, midbrain deformity and grey matter heterotopias [2][3][4]10 . Non-ocular abnormalities are more frequent when there is bilateral ocular involvement.…”

Section: Discussionmentioning

confidence: 99%

“…Congenital cystic eye can be associated with other ocular malformations such as contralateral microphthalmos with cyst and nonocular abnormalities like facial or brain malformations 3,4 .…”

Section: Introductionmentioning

confidence: 99%

Congenital Cystic Eye with Corpus Callosum Hypoplasia: MRI Findings

Pinto

Ribeiro²,

Moreira³

2011

Neuroradiol J

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Congenital cystic eye is an extremely rare congenital anomaly with fewer than 40 cases reported. Although its aetiology remains unknown, it results from partial to complete failure in invagination of the primary optic vesicle. It is usually unilateral and presents as a heterogeneous lesion with a cyst bulging the upper eyelid and a solid component consisting in neuroglial tissue. We describe a rare case of congenital cystic eye with corpus callosum hypoplasia with special focus on the magnetic resonance imaging (MRI) features and their role in the diagnosis. We conclude that MRI is not only useful in the diagnosis and management of this rare entity, but it can also be helpful in diagnosing associated brain abnormalities.

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Congenital cystic eye: features on MRI

Cited by 10 publications

References 4 publications

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

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

Congenital cystic eye with optic nerve

Congenital Cystic Eye with Corpus Callosum Hypoplasia: MRI Findings

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