Efferent Nerve Fibers in the Anterior Visual Pathways in Bilateral Congenital Cystic Eyeballs

Sacks, Joel G.; Lindenberg, Richard

doi:10.1016/0002-9394(69)91254-9

Cited by 39 publications

(26 citation statements)

References 2 publications

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“…Histopathologically, the cystic portion of microphthalmos with cyst is similar to congenital cystic eye (4,9,14). In cephalocele, which is very rare in the orbit, brain tissue protrudes in the orbit through a bony defect.…”

Section: Discussionmentioning

confidence: 98%

“…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%

“…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%

“…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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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

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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“…This abnormality is commonly unilateral, though bilateral cases or microphthalmia with cyst of the fellow eye are described [1,6,8,15,18]. Other ocular and nonocular deformities may occur [6,13,14,18].…”

Section: Discussionmentioning

confidence: 99%

Congenital cystic eye

Guthoff

Klein

Lieb

2003

Graefe's Arch Clin Exp Ophthalmol

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Congenital cystic eye is a primary developmental abnormality of the globe caused by an invaginational arrest of the primary optic vesicle between the 2-mm and 7-mm stages of fetal development. The luminal neuroglial tissue contains dystrophic calcified bodies and degenerated primitive nerve fibers. The enlargement of the cyst may be due to fluid produced by glial tissue. The differential diagnoses for cystic anomalies without epithelial lining include microphthalmia with cyst, microphthalmia with cystic teratoma, ectopic brain tissue and meningoencephalocele.

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