Congenital cystic eye

Guthoff, Rainer; Klein, Rüdiger; Lieb, Wolfgang E.

doi:10.1007/s00417-003-0820-8

Cited by 20 publications

(26 citation statements)

References 13 publications

(22 reference statements)

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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: 95%

“…Congenital cystic eye and microphthalmos with cyst are included in the first category, while cephalocele, ectopic brain tissue, and optic nerve meningocele are included in the second (4,5). In microphthalmos with cyst (colobomatous cyst), which is much more common, a small but recognizable eye that contains normal eye structures (cornea, iris, ciliary body, lens, vitreous cavity, retina, and choroid) is found.…”

Section: Discussionmentioning

confidence: 99%

“…In cephalocele, which is very rare in the orbit, brain tissue protrudes in the orbit through a bony defect. Ectopic brain tissue (heterotopia) has the same neural constituents as cephalocele, although there is no demonstrable connection to the brain (5,18). Orbital optic nerve meningocele, known also as optic nerve sheath cyst, is a fluid-filled expansion of the subarachnoid or/and subdural space (4).…”

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: 95%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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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“…Congenital anophthalmia or clinical absence of the eye at birth [1] is a rare malformation [2]. Its incidence is variable.…”

Section: Discussionmentioning

confidence: 99%

“…However, it should be noted that vitamin A deficiency, exposure to x-ray, abusive use of solvent, thalidomin intake and infections acquired during pregnancy would also be environmental factors [2]. The diagnosis of anophthalmia can be made pre-or post-natal based on a combination of clinical signs, imaging and genetic analysis.…”

Section: Discussionmentioning

confidence: 99%

Hereditary congenital anophthalmia:3 cases of children of the same family

Ia¹,

Tyc²,

Touré³

et al. 2017

New Front Ophthalmol

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Antenatal sonographic appearance of a large orbital encephalocele: A case report and differential diagnosis of orbital cystic mass

Ahmed

Noureldin

Gendy

et al. 2012

J of Clinical Ultrasound

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Orbital meningoceles and encephaloceles are rare extracranial extensions of the brain and meninges with or without direct communication between the central nervous system and the abnormal mass. We reported a rare case of large fetal orbital encephalocele; the diagnosis was suspected initially by prenatal ultrasound and confirmed by postnatal MRI and CT scans. The differential diagnosis of an intrauterine fetal cystic orbital mass includes orbital teratoma, epidermoid inclusion cysts, hemangioma or lymphangioma, congenital cystic eye, dacryocystocele, and orbital cephalocele.

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Congenital cystic eye

Cited by 20 publications

References 13 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

Hereditary congenital anophthalmia:3 cases of children of the same family

Antenatal sonographic appearance of a large orbital encephalocele: A case report and differential diagnosis of orbital cystic mass

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