Congenital cystic eye with intracranial anomalies: a clinicopathologic study

Chaudhry, Imtiaz A.; Shamsi, Farrukh A.; Elzaridi, Elsanusi; Arat, Yonca Özkan; Riley, Fenwick C.

doi:10.1007/s10792-007-9059-4

Cited by 15 publications

(38 citation statements)

References 17 publications

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“…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: 48%

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: 48%

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

Section: Discussionmentioning

confidence: 94%

“…It is a nonhereditary, unilateral disorder of unknown origin with no gender preponderance, although two cases with bilateral congenital cystic eye have been described (8,9). There is no evidence of chromosomal abnormality, although genetic investigations in one patient demonstrated a defect of the chromosome 13 (13q) deletion syndrome, known as Orbeli syndrome (2,10).…”

Section: Discussionmentioning

confidence: 99%

“…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%

“…Because of a developmental failure of the lens placode, the lens is always absent. Posteriorly, an optic nerve-like structure is found, consisting of fibrous astrocytes without neurons (2,4,21).…”

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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