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At least 271 records · Page 15Linked to original sources
PubMed2000

Ophthalmological and intracranial anomalies in patients with clinical anophthalmos.

PURPOSE: To better describe the clinical and neuroimaging spectrum of abnormalities in clinical anophthalmos. METHODS: We performed a retrospective review of all 17 patients admitted to the King Khaled Eye Specialist Hospital with clinical anophthalmos over a 15 year period who had a complete ophthalmological examination documented and received computed tomographic (CT) imaging of the orbits and brain. RESULTS: Patients with clinical anophthalmos had a high incidence of developmental abnormalities involving both eyes (15/17 patients, 88%), the brain (12/17 patients, 71%) and the body (7/12, 58%). The incidence of central nervous system anomalies reached 100% in patients with bilateral small optic nerves on CT scan. CONCLUSIONS: Patients with clinical anophthalmos share a similar constellation of neurological, somatic and neuroradiological abnormalities as patients with microphthalmos, septo-optic dysplasia and clinical optic nerve hypoplasia. This fact may provide insight into developmental abnormalities of the afferent visual system and brain.

Abnormalities, Multiple↗
PubMed1986

[Congenital cystic eye].

Report on 2 cases of congenital cystic eye. In the first case the unilateral defect was the only malformation, without any chromosomal aberration. The second patient presented with a congenital cystic eye, on the right and a severe microphthalmos of the left eye, as well as several other malformations. Genetic investigations revealed a gross defect of a chromosome 13 (13q- deletion syndrome; so-called Orbeli syndrome).

Abnormalities, Multiple↗
PubMed2000

Optic nerve hypoplasia and small eyes in presumed amblyopia.

PURPOSE: To assess the anatomy of eyes presumed to be amblyopic and their fellow eyes. PARTICIPANTS: Two hundred seventy-five patients diagnosed with amblyopia and 88 healthy or glaucomatous subjects. METHODS: All subjects underwent complete examinations, including cycloplegic refraction, slit lamp examination, ophthalmoscopy, and retinal imaging. Axial lengths were determined on 263 amblyopic and 88 healthy and glaucomatous subjects by ultrasonic biometry. MAIN OUTCOME MEASURES: Optic disc areas were determined by magnification correction of disc images performed with formulas. Dysversion of the optic disc was determined by simultaneous viewing of disc photographs, digitized images of both eyes, or both. RESULTS: The mean disc area of eyes presumed to be amblyopic was 1.72 mm(2) +/- 0. 73 SD and 1.95 mm(2) +/- 0.69 SD for nonamblyopic eyes (P =.0017). The mean disc area for 176 optic discs of glaucomatous and healthy eyes was 2.61 mm(2) +/- 0.95 SD. The mean axial length for eyes in the general population is 23.65 mm +/- 1.35 SD. The healthy and glaucomatous group in this study had a mean axial length of 23.89 mm +/- 1.29 SD. The eyes with poorer vision that were assumed to be amblyopic averaged 22.42 mm +/- 2.01 SD in length, whereas their nonamblyopic fellow eyes averaged 22.83 mm +/- 1.89 SD (P =.022). The differences between eyes in the healthy population and eyes that are presumably amblyopic, as well as the healthy and fellow eyes, are highly significant (P <.0001)(7.0 x 10(-16)). CONCLUSION: Vision impairment in presumed amblyopia is associated with optic nerve hypoplasia with relative microphthalmos, which is more notable in those eyes with poorer vision.

Adolescent↗
PubMed2005

Eye anomalies: seasonal variation and maternal viral infections.

INTRODUCTION: Eye anomalies, including anophthalmos and microphthalmos (absent eye and small eye), are common features in congenital infection syndromes such as rubella. Influenza, Coxsackie virus, and Parvovirus are less well-established teratogens. We report an ecologic analysis of anophthalmia/microphthalmia prevalence in England in relation to temporal variation in these infections using routine infection data. METHODS: The national (England) anophthalmos/microphthalmos register holds details of 406 babies (excluding chromosomal anomalies) born 1988-1994. Weekly infection data were obtained from the U.K. Public Health Laboratory Service and Royal College of General Practitioners Weekly Returns Service. We assigned cases and births an estimated exposure based on the population infection counts in the gestational weeks known to be critical for ocular development. We calculated the rate ratio of anophthalmos/microphthalmos prevalence for infection in the 90th percentile compared with the 10th percentile by Poisson regression. RESULTS: There was a positive association between severe anophthalmos/microphthalmos prevalence and Parvovirus B19 (rate ratio = 1.26; 95% confidence interval = 1.00-1.58) and for influenza (1.41; 1.08-1.84). Coxsackie virus showed a negative association with any anophthalmos/microphthalmos (0.75; 0.58-0.98) and with severe cases (0.66; 0.46-0.95). CONCLUSIONS: This analysis provides suggestive evidence for a teratogenic role of influenza and Parvovirus in anophthalmos/microphthalmos. The role of maternal infections in congenital anomaly etiology is worthy of further investigation.

Anophthalmos↗
PubMed1987

Microcornea associated with retinopathy of prematurity.

Eight children with retinopathy of prematurity (ROP) in whom the corneal diameters were abnormally small in one or both eyes are reported. The mechanisms for microcornea in ROP are discussed. The differential diagnosis of microphthalmos is briefly considered.

Cornea↗
PubMed1995

Long term ocular and neurological involvement in severe congenital toxoplasmosis.

AIMS: This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. METHODS: Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. RESULTS: In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), strabismus, and microphthalmos. In 50% of cases we observed iridic abnormalities and about 40% developed a cataract. Overt endocrinological disease, diagnosed in five of 15 patients, included panhypopituitarism (n = 2), gonadal failure with dwarfism (n = 1), precocious puberty with dwarfism and thyroid deficiency (n = 1), and diabetes mellitus and thyroid deficiency (n = 1). The observed endocrinological involvement was associated in all cases with obstructive hydrocephalus with a dilated third ventricle and optic nerve atrophy. CONCLUSION: The recognition of long term ocular, neurological, and endocrinological sequelae of congenital toxoplasmosis is important for medical management of these severely handicapped patients.

Adolescent↗
PubMed1995

Causes of childhood blindness in Sri Lanka: results from children attending six schools for the blind.

AIM: The survey aimed to identify the major treatable or preventable causes of visual loss in children attending blind schools in Sri Lanka so that appropriate control measures can be implemented. METHOD: A total of 226 children with blindness (BL) or severe visual impairment (SVI) attending six schools for the blind were examined and details recorded using the WHO standard reporting form. RESULTS: Cataract was responsible for 17% of BL/SVI and was the commonest 'avoidable' cause of childhood blindness. Bilateral microphthalmos accounted for one quarter of BL/SVI. Vitamin A deficiency was not a significant cause of visual morbidity. CONCLUSION: The pattern of childhood blindness seen in this study is typical of a growing number of south east Asian countries which are developing rapidly. Childhood cataract is a major avoidable cause that can benefit from future intervention strategies.

Adolescent↗
PubMed2000

Renal artery stenosis associated with epidermal nevus syndrome.

Epidermal nevus syndrome is an unusual neurocutaneous disorder in which epidermal nevi are associated with abnormalities of the skeleton and central nervous system, including the eyes and somtimes the cardiovascular system. We treated a patient in whom the latter included renal artery stenosis. An 18-year-old man with epidermal nevi was diagnosed as having the syndrome based on the additional presence of scoliosis, an arachnoid cyst in the middle cranial fossa, and microphthalmos. Hypertension was diagnosed when the patient was 15 years old. The plasma renin activity (9.7 ng/ml/h) was elevated. Right renal artery stenosis was demonstrated by angiography, and the abdominal aorta was narrowed distal to the ostium of the superior mesenteric artery. The plasma renin activity in the right renal vein (16 ng/ml/h) was higher than contralaterally (10 ng/ml/h). Several cardiovascular manifestations have been reported as a complication of epidermal nevus syndrome. Hypertension in an individual with epidermal nevi and congenital anomalies should prompt a search for a vascular anomaly.

Adolescent↗
PubMed1992

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.

Adenocarcinoma↗
PubMed2003

Autopsy case of multiple anomalies with hypoplastic cerebrum, eyes, and endocrine organs, mimicking Micro syndrome.

We report an autopsy case of multiple anomalies with severe micrencephaly, bilateral microphthalmos, and hypoplastic endocrine organs. We examined expressions of calcium-binding proteins and hypothalamic and pituitary hormones. A female proband presented with microcephaly, microphthalmia, and psychomotor development delay. At the age of 23 years, she died of cardiorespiratory failure. The endocrine organs demonstrated severe underdevelopment, and the hypoplastic eyeballs had remnant lens, vitreous hemorrhage, and retinal detachment. The brain weighed 260 g; the cerebrum, cerebellum, and brain stem were extremely small; and the tertiary sulci were absent in the cerebral surface. The cross-sectional area of cerebral cortex was reduced to about one third of those in the control, although six-layered lamination, density of pyramidal neurons, and expressions of calcium-binding proteins were comparatively preserved in the cerebral cortex. The third ventricle was hypoplastic, and the bilateral thalami appeared to be fused and the hippocampus was unrolled, whereas the corpus callosum was preserved. In the hypothalamus, the paraventricular nucleus was only identified, and the adenohypophysial somatotrophs were reduced. This may be the first autopsy report of Micro syndrome, which is characterized by microcephaly, brain malformations, optic atrophy, and hypogenitalism, although the case lacked agenesis of the corpus callosum.

Abnormalities, Multiple↗
PubMed1991

Retrobulbar cysts in Aicardi's syndrome.

Case report of a four-year-old girl with Aicardi's syndrome diagnosed from the triad: absence of the corpus callosum, focal seizures, and chorioretinal lacunae. In addition, MR scans and orbital ultrasonography detected retrobulbar cysts behind the right microphthalmic eye not described so far. Analyzing the histological data from two previous reports, it becomes likely that the cysts have formed from abnormal migration of neuroretinal tissue through the border of the optic disc coloboma that was also present. This pathomechanism is also known in isolated colobomatous microphthalmos in which cysts may occur.

Agenesis of Corpus Callosum↗
PubMed1996

Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?

A young male infant was noted at birth to have bilateral cleft lip and palate, bilateral microphthalmos and ocular colobomata, and a dysplastic left kidney. His mother had similar ophthalmological findings and milder facial anomalies which included abnormality of the philtrum and bilateral congenital nasolacrimal duct obstruction. His maternal grandmother had mild facial anomalies including a short philtrum and bilateral congenital nasolacrimal duct obstruction but had no evidence of any ocular abnormalities. The spectrum of abnormalities seen in this family are similar to those described in the branchio-oculo-facial syndrome, a rare dominantly inherited syndrome in which there are a number of developmental abnormalities of the eye, face, and kidney. Although the precise cause of this syndrome is unknown, it is likely to be caused by mutations in a gene responsible for the ordered closure of the foetal fissure and fusion of facial structures.

Adult↗
PubMedDate not supplied

Peters' anomaly: dominant inheritance in one pedigree and dextrocardia in another.

Two case reports are described to illustrate the unusual occurrence of dominant inheritance of Peters' anomaly and the concomitant occurrence of Peters' anomaly with colobomatous microphthalmos and dextrocardia. Studies of additional families are necessary to determine conclusively the pathogenesis, genetic mode of inheritance, ocular and systemic associated malformations, and proper management of this complex entity.

Abnormalities, Multiple↗
PubMedDate not supplied

Retinal disinsertion syndrome: report of a case.

A case of retinal disinsertion syndrome in a 31-year-old mentally retarded patient was reported. Associated anomalies included subluxation of the lens, microphthalmos and bilateral keratoconus. Total retinal detachment and subluxation of the lens in a blind microphthalmic eye of a young infant should raise the possibility of retinal disinsertion syndrome.

Adolescent↗
PubMedDate not supplied

Spontaneous corneal perforation and extrusion of intraocular contents in premature infants.

Unilateral spontaneous corneal perforation with expulsion of intraocular contents is reported in two very small, high risk premature neonates. The one surviving infant demonstrated unilateral microphthalmos with aphakia and a small leukoma. The cause of this phenomenon is not clear, and measures which might be taken to prevent its occurrence are not obvious.

Corneal Diseases↗
PubMedDate not supplied

Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome.

A 5-year-old boy presented with ocular anomalies including microphthalmos, colobomas of the iris, choroid, and optic nerve head, and strabismus. Magnetic resonance imaging of the head showed multiple bilateral asymmetric high signal intensity foci in the subcortical and periventricular white matter. Genetic counseling disclosed a 47,XXY karyotype.

Abnormalities, Multiple↗
PubMed1976

The use of contact B mode ultrasound in pediatric ophthalmology.

It has been shown that an ultrasound system such as the Bronson-Turner Contact B Mode can be added, fruitfully, to the armamentarium of the individual pediatric ophthalmologist. It can be used quickly and precisely with an ophthalmological training and without patient discomfort or anesthesia no matter what the age. Valuable anterior segment information can be readily gained without a waterbath. Examples are shown of children with opaque media who were found to have congenital cataracts and congenital aphakia, microphthalmos, PHPV, retinal anomalies and ectatic coloboma.

Adult↗