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At least 253 records · Page 14Linked to original sources
PubMed2004

An epidemiological and clinical study of ocular manifestations of congenital rubella syndrome in Omani children.

OBJECTIVE: To conduct a follow-up study in patients with congenital rubella syndrome (CRS) in Oman and analyze the prevalence of ophthalmic disorders and associated systemic problems. METHODS: This historical prospective cohort study included review of 32 surviving patients with CRS reported by the surveillance system in Oman from 1987 through 2002. All patients underwent a complete ophthalmic examination that included visual acuity estimation, refraction and anterior and posterior segment evaluation, and intraocular pressure measurement. Pediatric and otorhinolaryngologic consultations were also performed. RESULTS: The age-adjusted prevalence of CRS in Oman was 73.2 per million in the Omani population younger than 20 years, and the incidence was 0.6 per 1000 live births. Cataract, retinitis, microphthalmos, and glaucoma were observed in 11, 16, 6, and 4 patients, respectively. Keratoconus, corneal hydrops, and spontaneous resorption of lens were found in 1 patient each. Vision testing was possible in 16 children; 4 were bilaterally blind. Patients who had undergone eye surgery had significantly lower visual acuity, as compared with those who had not undergone surgery (relative risk 2.53; 95% confidence interval, 1.07-6.13). Among the 11 patients with CRS with cataract, we found hearing loss, cardiac anomalies, and neuropsychologic anomalies in 7, 4, and 6 children, respectively. CONCLUSIONS: Congenital rubella syndrome has a wide variety of severe ophthalmic and systemic complications. High clinical vigilance for signs of CRS and regular observation of surviving patients with CRS is desirable. In patients with cataract, the functional results of surgery, despite state-of-the-art ophthalmic care, continue to be poor. Because of a high prevalence of visual, audiologic, and neurologic disabilities, surviving patients with CRS pose a burden on the medical and social communities. Emphasis in management ought to be prevention of CRS through effective immunization programs.

Adolescent↗
PubMed1978

Multiple ocular anomalies associated with maternal LSD ingestion.

Severe ocular malformations, including microphthalmos, intraocular cartilage, cataract, persistent hyperplastic primary vitreous, and retinal dysplasia, occurred in a premature baby girl. The mother had ingested LSD during the first trimester of pregnancy. To our knowledge, this is the third case reported of ocular teratogenesis associated with maternal LSD ingestion. Further cases must be documented to establish an actual cause and effect relationship between the drug and the induced malformations.

Abnormalities, Drug-Induced↗
PubMed1992

Optic nerve aplasia.

Optic nerve aplasia is a rare congenital defect invariably associated with other ocular or systemic disorders. We examined a 3-year-old girl with monocular microphthalmos who had optic nerve aplasia on histopathologic examination of the eye after enucleation. Magnetic resonance imaging verified the presence of unilateral optic nerve aplasia, and demonstrated hemichiasmal hypoplasia on the affected side and bilateral optic tracts. The visually evoked cortical response revealed increased signals over the occipital cortex ipsilateral to the aplastic nerve, suggesting misdirection of axons from the temporal retina of the normal eye. The visual pathway in unilateral optic nerve aplasia may assume a primitive form of neuronal organization characterized by an increase in contralateral retinogeniculostriate projection.

Child, Preschool↗
PubMed1991

Relationship of cell death to cyclophosphamide-induced ocular malformations.

C57BL/6J mice were used to study the ocular teratogenic effects of cyclophosphamide administered to pregnant females on d 9 of pregnancy at a dose of 5 mg/kg body weight. Nile blue staining demonstrated increased cell death at the base of the optic stalk, in the optic vesicle, and in the perivesicular mesenchyme in treated embryos. Malformations studied at gestational d 11 and 16 by light and scanning electron microscopy included microphthalmos, microphakia, and aphakia and were predictable based upon patterns of increased cell death. These anomalies are similar to those reported with exposure to ethanol or isotretinoin on gestational d 7.

Animals↗
PubMed1976

[Enzymatic studies in lenses of different breeds of mice (author's transl)].

Leucinaminopeptidase (LAP), lactatedehydrogenase (LDH) and glucose-6-phosphatdehydrogenase (GPDH) were analysed in the lenses of two different breeds of mice. Compared to the lenses of a control stock (Agnes Blum, Jena), in the healthy seeming, heterozygous mice the same activities of LAP, LDH, and GPDH were found. But in the breed with evident microphthalmos and cataract LDH was increased. Possible connections are discused.

Animals↗
PubMed1977

Partial deletion of the long arm of chromosome no. 13.

A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.

Abnormalities, Multiple↗
PubMed1976

Familial nanophthalmos.

Four members of one sibship had microphthalmos with fundi having an irregular "rippled* appearance with alternating light and dark red coloration. Fluorescein angiography revealed patchy choriocapillaris perfusion with unusually rapid diffusion into the retina. Genealogic and geographic data strongly suggest autosomal-recessive inheritance. Only one patient developed glaucoma. The unique combination of abnormalities in this family suggests that a new recessive mutation may be responsible.

Aged↗
PubMed1978

Congenital varicella cataract.

A 16-month-old boy with 1:16 and 1:8 serum titers to varicella zoster fluorescent membrane antigen had had unilateral cataract and microphthalmos since birth. The mother had suffered varicella during the fourth month of pregnancy. Cataract aspiration in the child was uncomplicated.

Antibodies, Viral↗
PubMed1988

The Lenz microphthalmia syndrome.

We examined two patients with the Lenz microphthalmia syndrome. When findings from these two patients and those from ten other patients in the literature were combined, the following abnormalities were observed: microphthalmos in all patients; developmental retardation in 11 patients (92%); external ear abnormalities in ten patients (83%); microcephaly in ten patients (83%); blepharoptosis in nine patients (75%); skeletal anomalies (excluding digital anomalies) in eight patients (67%); dental abnormalities of number and position in eight patients (67%); digital anomalies in seven patients (58%); urogenital anomalies in six patients (50%); and cleft lip and palate abnormalities in four patients (33%). Cardiac anomalies, imperforate anus, hearing loss, spastic diplegia, sacral pits, webbed neck, and abnormal dermatoglyphs were rarely seen. One of our two patients had a dislocated lens and retinal detachment.

Abnormalities, Multiple↗
PubMedDate not supplied

Cataract surgery in the small adult eye.

Microphthalmos is a rare condition that is often associated with several other ocular abnormalities. Given the considerable differences between microphthalmic and anatomically normal eyes, cataract surgery is technically demanding in these patients, and special attention must be given to adequate preoperative planning of these procedures. Furthermore, the unique nature of these surgeries creates a particular subset of intraoperative and postoperative complications. However, with the advent of piggyback intraocular lens placement, the visual outcomes of cataract surgery in small adult eyes have improved considerably over the past 20 years. This review discusses the nature of the microphthalmic eye, and addresses proper pre-, intra-, and postoperative care of the microphthalmic patient.

Adult↗
PubMed1997

Bilateral aplasia of the optic nerves, chiasm, and tracts in an otherwise healthy infant.

PURPOSE: To report bilateral aplasia of the optic nerves, chiasm, and tracts in an otherwise healthy infant. METHOD: Case report. RESULTS: Ophthalmologic examination disclosed bilateral microphthalmos and optic nerve aplasia. Physical, neurologic, and genetic evaluations were otherwise normal. Magnetic resonance imaging of the brain and orbits disclosed bilateral aplasia of the optic nerves, chiasm, and tracts. CONCLUSION: Bilateral aplasia of the optic nerves, chiasm, and tracts may occur in an otherwise healthy infant.

Brain↗
PubMed1996

Intraorbital tissue expansion in the management of congenital anophthalmos.

Seven cases of intraorbital tissue expansion for the treatment of congenital anophthalmos or microphthalmos are presented. The ages of the patients at insertion of the expander ranged from 4 months to 8 years. A 4 ml spherical tissue expander with a remote injection port was inserted into the affected orbit via a bicoronal approach. Expansion periods ranged between 4 months and 3 years and are continuing in 2 patients. Results were assessed by clinical examination, comparison of photographs, 3D CT scans and orbital measurements taken from axial CT scans which were compared with established normal values. Results confirmed enlargement of the orbit with expansion. Long-term expansion over several years established near normal bony growth patterns. Placement of the expander within the orbital soft tissue cone resulted in more symmetrical expansion than subperiosteal placement. An osteotomy releasing the lateral orbital wall in older children allows expansion of the orbit and may reduce the incidence of expander extrusion. Although intraorbital tissue expansion successfully induces orbital growth, improvement in the form and size of the congenitally deficient eyelids is less marked.

Anophthalmos↗
PubMed2001

Micro syndrome in Muslim Pakistan children.

OBJECTIVE: To date, Micro syndrome has been reported in only three children from one family. We describe an additional 14 children from 11 families. DESIGN: Retrospective case series. PARTICIPANTS: Fourteen children from 11 families attending one of five British hospitals. MAIN OUTCOME MEASURES: The following features were documented: pre- and postoperative eye findings, electrophysiologic analysis, systemic abnormalities, development, neuroimaging, genealogy, geographic origin of family. RESULTS: We expand and modify the description of ocular and electrophysiologic findings in Micro syndrome. The eye findings of microphakia, microphthalmos, characteristic lens opacity, and atonic pupils were the presenting feature in all infants and were the most reliable diagnostic signs in the immediate postnatal period. Cortical visual impairment, microcephaly, and developmental delay were not always detectable initially; they developed in all children by 6 months of age. Microgenitalia were a useful diagnostic clue in affected males only. Therefore, eye features were more consistently useful in determining diagnosis than dysmorphology or brain imaging. The families of all the children originate from the Muslim population of Northern Pakistan. Inheritance is likely to be autosomal recessive. CONCLUSIONS: Micro syndrome usually presents to the ophthalmologist, who may be able to make the diagnosis on the basis of characteristic eye findings combined with ethnic origin. Initially, the nature and severity of nonophthalmic features are not apparent. Early diagnosis of the underlying condition is important to guide management of the cataracts, glaucoma, and developmental delay. It is helpful for the family and medical staff to be aware of the low level of vision that develops despite optimal ophthalmic intervention. Genetic counseling extending into the wider family is particularly important in view of the high rate of consanguinity.

Adolescent↗
PubMed1983

Computed tomography for diagnosis of persistent hyperplastic primary vitreous (PHPV).

Leucocoric eyes with persistent hyperplastic primary vitreous (PHPV) were studied by computed tomography (CT). Maximum information was derived from use of an intravenous contrast agent and repetition of the scanning in the lateral decubitus position. Eight diagnostically helpful radiologic findings were noted, some for the first time. (1) Radiodense retrolental soft tissue can be demonstrated along Cloquet's canal. (2) The retrolental tissue enhances after administration of intravenous iodine-containing contrast material. (3) Congenital nonattachment of the retina is demonstrable by CT. (4) There may be localized or generalized increased radiodensity of the vitreous body. However, some minimally affected cases have vitreous chambers with normal attenuation values, and CT evidence for PHPV may be lacking in such patients. (5) There may also be layered, high density fluid (blood) in the retrohyaloid space, which shifts location in the lateral decubitus position. Thus far, this finding appears to be unique to PHPV, but computed scanning of other neonatal ocular conditions will be necessary before concluding it is pathognomonic. (6) There is absence of ocular and intraorbital calcification. (7) Abnormalities in configuration of the eyeball, including microphthalmos, can be demonstrated. (8) Retrobulbar tissues and other orbital structures appear normal, and the optic nerves appear normal or minimally reduced in size.

Adolescent↗
PubMed1984

Enophthalmos: a clinical review.

Twenty-six cases of enophthalmos were reviewed. The causes in order of frequency were: orbital asymmetry (8); trauma (5); orbital metastasis (4); microphthalmos (2); orbital varix (2); maxillary mucocele (2); localized scleroderma (1); absence of sphenoid wing (neurofibromatosis) (1); post irradiation atrophy (1). Only six of the patients (23%) were referred with the diagnosis of enophthalmos, suggesting the sign maybe subtle and is frequently missed or misdiagnosed. The nature of the causes underscore the need for careful and thorough diagnosis. In particular, the therapeutic implications of diagnosing metastatic disease, maxillary mucocele, and orbital varices is noted. A review of etiology and mechanisms of enophthalmos point to the diversity, importance and conditions causing this sign.

Adolescent↗
PubMed1996

Optic disc in fundus coloboma.

PURPOSE: To categorize and describe the type of optic disc involvement and blood vessel patterns seen in patients with fundus coloboma. METHODS: This is a prospective study involving 67 eyes of 40 patients with choroidal coloboma. The evaluation included documentation of fundus details using fundus drawings or photographs, or both. RESULTS: Six types of disc involvement were identified: (1) normal disc outside fundus coloboma (27.8%); (2) disc outside the fundus coloboma and abnormal (10.4%); (3) disc outside the fundus coloboma and independently colobomatous (8.9%); (4) disc within the fundus coloboma and normal (5.0%); (5) disc within the fundus coloboma and colobomatous (44.3%); and (6) disc shape not identified but blood vessels seen emanating from the superior border of the large fundus coloboma (2.9%). Visual acuity was better in types I, II, and III compared with IV, V, and VI. Microphthalmos was more common with the more severe anomalies. High myopia was more common in the less severe anomalies. CONCLUSION: Optic disc involvement in fundus coloboma is widely variable. Of fundus colobomas, 67.2% are associated with either a frankly colobomatous or an altered disc. Of the discs located outside fundus colobomas, 41% are also abnormal. Visual acuity was better in types I, II, and III.

Adolescent↗
PubMed2004

[Angle closure mechanisms of glaucoma].

Glaucoma caused by primary closure of the iridocorneal angle accounts for half of the glaucoma cases in the world, 9 out of 10 in patients of Sino-Mongolian origin. The most frequent mechanism involved is anterior chamber angle blockage, but glaucoma can also be the result of a plateau iris structure, ciliary blockage, and exceptionally microphthalmos. Other than these forms, closure of the iridocorneal angle can be secondary to acquired iridopathies, or caused by crystallin anomalies or therapeutic interventions.

Acute Disease↗
PubMed1998

Capillary haemangiomas in association with morning glory disc anomaly.

PURPOSE AND METHOD: Capillary haemangiomas in children are usually isolated, but may have systemic associations. This accords with our finding of ocular malformations, especially "morning glory disc anomaly" (MGDA), in three children which are described. RESULTS: All three children had extensive capillary haemangiomas in combination with MGDA in one eye. One of the children also had microphthalmos in one eye and a partial agenesis of the corpus callosum. Another child had sclerocornea in one eye and congenital heart defects. CONCLUSION: An association of extensive capillary haemangiomas with MGDA is described. The embryological timing of such defects as well as investigation of the children is discussed. Extensive haemangiomas have not previously, to our knowledge, been described in association with MGDA.

Abnormalities, Multiple↗