1/15. Nanophthalmos with uveal effusion. A new clinical entity.Five patients exhibited the association of nanophthalmos and uveal effusion, apparently on a familial basis. glaucoma, occurring in the fourth to sixth decades of life, required surgical intervention that was followed by the development of secondary retinal and choroidal detachment. Recognition of this syndrome is important because: (1) surgical procedures for glaucoma should be avoided, if possible, in order to prevent the development of uveal effusion; (2) retinal detachment surgical procedures are ineffective in uveal effusion and should be avoided, and (3) choroidal elevation occurring in the uveal effusion phase may be erroneously diagnosed as an intraocular tumor and unnecessary enucleation may follow.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/15. microphthalmos with cyst--case presentation.The author has experienced a case of microphthalmos with large orbital cyst in a 4 months old female, that was found at the time of birth. To facilitate fitting a cosmetic prosthesis, the microphthalmos with cyst was removed surgically. On serial section I could find an area of discontinuation of the sclera that was suspected to be the defective closure of the embryonic cleft. Some aberrant retinal tissue was found in the wall of the cyst, and markedly disorganized ocular tissue forming a tumor-like mass filled the microphthalmic eyeball. In view of these histopathologic findings I could draw the conclusion that developmental failure of the embryonic eyeball and consequential proliferation of the embryonic neuroepithelial cells occurred at an early developmental stage causing the formation of microphthalmos with cyst.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/15. retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.A one-month-old infant boy was examined early in life because his mother had bilateral retinoblastoma and his father had bilateral microphthalmia. The ophthalmologist found his right eye was normal size with a coloboma of the iris, choroid, and retina. The left eye was microphthalmic with a coloboma of the uveal tract and retina. A vascularized fluffy white mass in the posterior pole was diagnosed clinically as a retinoblastoma. The tumor regressed with radiation. When the patient was four years of age, a large tumor was found in the region of the pineal recess, causing hydrocephalus and seizures. A biopsy showed an undifferentiated malignant neuroepithelial neoplasm. The patient died within three months of diffuse central nervous system tumor. The unusual findings of a retinoblastoma in a microphthalmic eye with bilateral colobomas and a neuroepithelial neoplasm of the pineal gland are discussed.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/15. Neuroepithelial adenocarcinoma of the eye.A 29-year-old male patient with a microphthalmos on the right side since birth was seen in June 1987 in the University eye Clinic because of a massive exophthalmus of the former microphthalmic eye. Computer tomography revealed a diffuse, infiltrating tumor of the right orbit. The bulbus was not demarcated, and the whole orbita had to be eviscerated. Histologically, we found a solid, undifferentiated tumor with clear signs of malignancy. It consisted of epithelial cells, partly in nest formation, which were keratin positive and vimentin negative, and of more spindle-shaped formations which were keratin negative and vimentin positive. In some areas, the tumor showed a tubular or an adenoid proliferation. CEA or S-100 could not be demonstrated. The histopathological diagnosis was neuroepithelial adenocarcinoma of the eye. The differential diagnosis and the genesis of the tumor are discussed.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/15. Massive gliosis of the retina: report of a case investigated by immunohistochemistry and clonality assays.We report a rare case of massive retinal gliosis that developed in a 32-year-old woman who had been born with bilateral microphthalmia. The patient had recently noticed left ophthalmos and underwent total resection of the affected eyeball. Histologically, the vitreous body had been totally replaced by massively proliferated spindle cells, which had delicate fibrillary cytoplasm without nuclear atypia. Because the attenuated retinal pigment epithelium and intact sclera were preserved at the periphery of the tumor, the tumor was thought to be retinal in origin. Immunohistochemically, the spindle cells were strongly positive for glial fibrillary acidic protein and neuron-specific enolase and partly positive for S-100 protein. These findings led to a diagnosis of massive gliosis of the retina. Clonality analysis of the tumor using a human androgen receptor assay revealed the polyclonal nature of the proliferating spindle cells. This is the first documentation of the polyclonality of this disease.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
6/15. Infiltrating orbital astrocytic proliferation associated with congenitally malformed eyes.This report describes the clinical and pathologic findings in two adults with orbital infiltration by astrocytic cells associated with congenitally malformed eyes. Both cases had enlarging orbital masses and underwent complete resection. Histopathology revealed proliferation of astrocytes (fibrillary acidic protein-positive) that invaded the orbital tissues. To the best of our knowledge, there are no similar cases in the literature.- - - - - - - - - - ranking = 5keywords = life (Clic here for more details about this article) |
7/15. The prenatal diagnosis of the walker-warburg syndrome.On the basis of physical features and autopsy findings, a child with congenital hydrocephalus, bilateral microphthalmia, myopathy, severe developmental retardation and multiple brain malformations was diagnosed to have the walker-warburg syndrome (WWS). During a subsequent pregnancy in this family, a fetus at risk for this autosomal recessive condition was evaluated with serial ultrasound examinations. At 15 weeks of gestation an encephalocele was noted. Disproportionately slow growth of the head compared to the body was noted at 36 weeks. At birth, the diagnosis of WWS was confirmed in the child due to the presence of microcephaly, an encephalocele, a meningocele and bilateral microphthalmia. This is the first reported case of the early prenatal diagnosis of this recently categorized genetic condition, in which the major features are hydrocephalus, multiple central nervous system malformations, microphthalmia with ocular malformations, severe psychomotor retardation, congenital myopathy and a very limited life expectancy.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/15. Unilateral esotropia after enucleation in infancy.Five patients developed esotropia in the remaining eye after unilateral enucleation in the first few weeks to months of life. esotropia was associated with a face turn toward the opposite side and abduction nystagmus with a null point in extreme adduction. Our experience with these patients supports the reflexogenic theory for the development of a type of congenital-infantile esotropia. An intact globe-ocular muscle relationship, even in a blind eye, may have a stabilizing effect on the fellow eye in the first few weeks to months of life, and this should be considered before enucleation is done.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
9/15. hydrocephalus combined with congenital cataract and microphthalmia.We describe a case of bilateral microphthalmia with bilateral congenital cataracts associated with hydrocephalus in a 9-month-old girl with consanguineous parents. The differential diagnosis included: (1) congenital rubella syndrome; (2) congenital toxoplasmosis; (3) chromosome alterations; and (4) metabolic disease. However, negative clinical, laboratory, and instrumental investigations excluded all of these hypotheses. We stress the usefulness of echography in establishing whether or not infection has occurred during intrauterine life.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
10/15. microcephaly, mental retardation and chromosomal aberrations in a girl following radiation therapy during late fetal life.A human foetus was heavily irradiated in the thirtieth to the thirty-third week due to carcinoma of the uterine cervix of the mother. Irradiation after 20 weeks of pregnancy is thought not to produce severe abnormalities. However, the child showed microcephaly, mental retardation, stunted growth, microphthalmus, retinal degeneration, cataract and defective dentition. Cytogenetically the frequencies of both chromatid and chromosome breaks were increased.- - - - - - - - - - ranking = 4keywords = life (Clic here for more details about this article) |
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