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At least 397 records · Page 22Linked to original sources
PubMed1987

Persistent hyperplastic primary vitreous (PHPV): role of computed tomography and magnetic resonance.

The diagnosis of PHPV is often made difficult by its extremely broad array of clinical manifestations, its etiologic heterogeneity, and frequently opaque ocular media. The CT and MR findings are discussed in terms of how they can be of use in the differential diagnosis of PHPV. The strengths and weaknesses of each of these diagnostic methods is detailed in regard to patients who present with unilateral leucocoria, microphthalmos, lens opacity, and retinal detachment.

Child↗
PubMedDate not supplied

Congenital ocular anomalies in Pondicherry.

Congenital anomalies of the eye and ocular adnexa occurring in Pondicherry have been described. Anophthalmos, microphthalmos, limbal dermoids, nervus of Ota, anterior lenticonus, buphthalmos, and congenital cataract are very common. Onset of cataract in young individuals was caused by abnormal aminoaciduria. Hereditary factors played a part in 59 percent of the cases who would have become blind if they were not treated. Consanguinity is a major factor in their pathogenesis. Avitaminosis A and systemic infections which are common here may be playing a significant role in their etiology.

Adolescent↗
PubMed1983

Autosomal trisomy 18 and 13 syndromes in Ibadan, Nigeria.

The clinical, cytogenetic, dermatoglyphic and autopsy findings in 14 cases of trisomy 18 as well as in seven cases of trisomy 13 seen in the Paediatric Department of University College Hospital (UCH), Ibadan, Nigeria, from 1972 to 1981 are presented. The incidence was 0.12 and 0.08 per 1000 livebirths for trisomies 18 and 13 respectively. All the patients were of regular trisomies except two; one case was mosaic for trisomy 18 and another case of trisomy 13 seemed to have derived an extra chromosome of the D group from a reciprocal D/D translocation that was maternally carried. Both syndromes have certain physical features in common which sometimes made clinical diagnosis difficult, but each had diagnostic features of its own. While the combination of microcephaly, cleft lip and/or palate, microphthalmos, capillary haemangioma and polydactyly form the hallmark of trisomy 13, the presence of prominent occipit, micrognathia, clenched fist together with protruding heel make the appearance of trisomy 18 unmistakable. The prognosis in both syndromes is poor and those who survive beyond infancy exhibit severe mental retardation. It is therefore important to establish the diagnosis early so as to conserve limited resources in an attempt to prolong the lives of neonates with these syndromes.

Abnormalities, Multiple↗
PubMed1981

The extra digit. A pointer to the eye?

The syndrome associated with an extra digit which is commonly seen by the ophthalmologist is that of Laurence-Moon-Biedl, with its well-known association with retinal dystrophy. However, there are several other syndromes in which there is polydactyly and an ocular malformation. Many have colobomata and microphthalmos. Other syndromes show various orbital and eyelid abnormalities, such as ptosis, hypertelorism, and lateral displacement of the canthi. In three syndromes other than the Laurence-Moon-Biedl there is a retinal dystrophy. In Trisomy 13 there is a severe retinal dysplasia, and in Bloom's syndrome excrescences on Bruch's membrane have been described. There have been several cases of asphyxiating thoracic dystrophy (Jeune's syndrome) described with a retinal dystrophy, and we present a case of the closely-related Ellis-van Creveld syndrome with a retinal dystrophy. We also present a case with a chromosomal defect (an addition to the short arm of chromosome 2), polydactyly, and a retinal dystrophy.

Abnormalities, Multiple↗
PubMed1982

[Coat pigmentation and effect of the ocular retardation gene in the eye of chimeras between or/or and AKR mice].

Twenty-five chimeric adult mice were obtained by aggregating 8-cell embryos of or/or and +/+ genotypes (AKR mice), according to the Tarkovsky and Mints method. The coat color and pigmentary epithelium of the eyes were evidence of chimerism. The coat colour of chimeras varied from a small white to a remarkable gray. The weight of the newborn chimeric mice did not differ from normal. The gene or in homozygotes suppressed the retinal anlage. It was noted that variability of the eye size was dependent on the number of or/or cells in the populations that formed the eyes in chimeras or/or in equilibrium AKR. In 18 animals the eye size did not differ from normal. The pigmentary epithelium of the eyes contained from 32 to 40% or or/or cells. Seven chimeras showed microphthalmos. Asymmetric eye abnormality was recorded in three cases. The pigmentary epithelium of such eyes contained from 63 to 84% or or/or cells.

Animals↗
PubMed1981

Central serous choroidopathy in the Hallermann-Streiff Syndrome.

Central serous choroidopathy was observed in a young patient with the Hallermann-Streiff syndrome. Typical features of this syndrome include microphthalmos, proportionate dwarfism, dyscephaly with birdlike facies, dental abnormalities, and hypotrichosis. Exceptional aspects of this case include age of onset (11 years), high hyperopic refractive error (+ 13.00 sphere), and multiple recurrences caused by six separate documented leaks from the choroid. Fundus changes previously reported in the Hallermann-Streiff syndrome, interpreted as chorioretinal pigmentary changes, may have been secondary to previous undiagnosed central serous choroidopathy. Periodic ophthalmoscopy should be performed and may detect unrecognized episodes of central serous choroidopathy for which photocoagulation would be beneficial.

Adolescent↗
PubMed1994

[Congenital malformations of the eyeball and its appendices in Zaire].

OBJECTIVE: to determine the epidemiology of congenital eye malformations. METHODS: the records of 1740 patients (1913 eyes) with congenital eye malformations seen from 1962 through 1992 were reviewed. RESULTS: the prevalence rate of congenital eye malformations was 2.2%. Congenital cataract (38%), atresia of the naso-lacrimal duct (10%), congenital glaucoma (9%), congenital ptosis (8%), microphthalmos (8%), albinism of iris (8%), microcornea (7%) were the most frequent eye malformations. The common types of associated malformations included albinism, microcephaly, cardiopathy and anomalies of ears. CONCLUSION: the findings of this study were similar to those published in Europe and United States.

Abnormalities, Multiple↗
PubMedDate not supplied

[Persistence of the primordial vitreous body and buphthalmos].

Persistence of the hyperplasic primordial vitreous body is determined by a deletion of embryonal development of the vitreous body and of the hyaloid vascular system. Infant aged 3.5 years presents persistence of primordial vitreous body with crystalline dislocation in the camera aquosa and secondary buphthalmos of the left eye and microphthalmos with dislocation of the crystalline in the vitreous body of the right eye. At the back of the right eye we noticed a whitish mass, richly vascularized with vestiges from the hyaloid artery, but the posterior half of the vitreous cavity is filled with microscopic blood; the fibrovascular membrane is made of conjunctive tissue set in parallel layers and vessels with macrolipophagic degeneration. Microscopic investigation of retina reveals glial hyperplasia zones in the neighbourhood of the vitreous body. In the present paper the authors show the persistence of the primordial vitreous body in the left eye and bilateral dislocation of the crystalline, revealing multiple ocular malformations.

Child, Preschool↗
PubMed1995

[In utero study of the eye of normal fetuses. Static ultrasonographic aspects and clinical implications].

PURPOSE OF THE STUDY: Some ocular diseases are detected by amniotic fluid analysis. However, some serious eye malformations are only detected at birth. By analogy to other organs, we were concerned by fetal sonography studying in utero ocular structures. METHODS: We performed 150 fetal sonograph with 2 abdominal probes and one vaginal probe. We defined: (a) Axes where ocular structures are best visualised, (b) sonographic images of these structures, (c) the date at which these structures are detected. RESULTS: Orbit are detected between 11th and 12th week amenorrhae. Lens are detected between 12th and 14th week. Hyaloid artery appears around the 18th and disappears around the 32nd. Lids were recognised at 16th week. These results were confirmed by similar studies. Pathologic cases described in the literature are discussed. CONCLUSION: Fetal sonography must include a precise study of the eye. However, the eye is a small organ, so its study implicates technically skilled and an experienced practitioner. Fetal sonography gives precise information about normal eye development and allows the detection of structural anomalies (anophthalmos, microphthalmos, cyclopia) or orbital prenatal malformations (hyaloid artery persistance).

Biometry↗
PubMed1994

[Value of immersion B-scan ultrasonography in vitreo-retinal pathology].

Diagnosis immersion B Scan ultrasonography is very useful to study anterior segment lesions of the eye (angle of iris, anterior synechiae, iris and ciliary body tumors). We studied forty patients with posterior segment lesions of the eye with this technique. We think that it is useful to study anterior vitreous (cyclitic membranes, vitreoretinal relationships in front of ora serrata). It is useful to study the posterior segment of the eye with this immersion technique, in case of high hyperopia, microphthalmos, phtysis bulbi with retinal detachment and to evaluate acute vitreous hemorrhages, vitreous membranes in case of proliferation diabetic retinopathy, tractional retinal detachment and vitreoretinal adhesions. All the structures were better defined with the immersion technique than with the contact technique: with the immersion technique, these anterior structures are located close to the focus point of the probe (which is the case with the contact technique).

Eye Diseases↗
PubMed1976

[Dysgenesis of CNS in dyscranio-pygo-phalangia (author's transl)].

A rare case of dyscranio-pygo-phalangia was studied neuropathologically. The patient was a 19 days old boy, who showed multiple anomalies: protuberance of forehead, narrow eye fissures, microphthalmos, micrognathia, microauriculae with dysplasia, hexadactylia of extremities, cryptorchism, asymmetric thorax, congenital heart disease and hypoplasia of the right lung. There were multiple dysgeneses in the central nervous system, especially the cerebellum: floccular heterotopia; heterotopias of cortex type, cerebellar nucleic type and Purkinje cell type; external granular layer cells in the white matter; dentate spindle-cell-dysgenesis. Other findings were glio-neurono-mesenchymal dysgenesis on the surface of the brain, residual fetal external granular layer on the surface of the pons, partial hypoplasia of corpus callosum, heterotopic nerve cells in the molecular layer of the periinsular cortex.

Abnormalities, Multiple↗
PubMed1977

Orbital expansion for anophthalmia and micro-orbitism.

In severe cases of microphthalmos or anophthalmos, the bony orbital cavity is often too small to allow one to create a satisfactory socket for a prosthesis. An omnidirectional expansion of the orbit, by osteotomies done in a step-like fashion, allows the creation of a larger bony cavity and improves the symmetry of the face. The risks of the craniotomy and of the mobilization of the free bone pieces are discussed.

Anophthalmos↗
PubMed1996

Fetal alcohol syndrome--an ophthalmological and socioeducational prospective study.

BACKGROUND: The eye is a sensitive indicator of adverse effects of prenatal alcohol exposure. Anomalies of the eyes and their adnexa are known to be associated with the fetal alcohol syndrome (FAS), although long-term effects of these malformations are unknown. DESIGN: A prospective ophthalmologic follow-up (median, 11 years; range, 4 to 19 years) was performed in 25 children with FAS. Their social situation and educational status were also investigated. RESULTS: All but one of the children had ophthalmologic abnormalities. Fundus anomalies were observed in 23 children, of whom 19 had optic nerve hypoplasia. Thirteen children had concomitant strabismus. Microphthalmos, buphthalmos, phthisis, microcornea, coloboma of the iris and uvea, blepharoptosis, cataract, persistent hyperplastic primary vitreous, and nystagmus were observed in single cases. The dysmorphology of the eyes remained unchanged during the follow-up period. In 2 children with severe mental retardation and, initially, very poor vision, the severe visual handicap persisted. Seventeen children had an initial visual activity > or = 20/70, which remained unchanged in 10 children and improved in 7 children, despite the presence of optic nerve hypoplasia in 14 of the children. Ten mothers died, 8 of them because of alcohol-related diseases, and only 4 of the mothers were able to take care of their children. Sixteen children went to schools for the mentally retarded, and only 3 children had a normal school education without extra teaching assistance. CONCLUSIONS: In children with FAS, the major sequela, ie, brain, damage, remains despite extensive medical, educational, and social support. The presence of ophthalmic signs, which persisted but did not deteriorate during the follow-up period, strengthens the diagnosis of FAS, and the high frequency of ocular involvement indicates the importance of a complete ophthalmologic evaluation in children with FAS.

Adolescent↗
PubMed1995

The frequency of genetic eye diseases in a genetic counseling center.

The frequency of genetic eye diseases in a genetic counseling center: In this study the incidence of eye diseases of genetic origin in patients attending our genetic counseling center for a period of almost six years is documented. The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation, microphthalmos, retinoblastoma, congenital glaucoma, congenital ptosis, degenerative myopia, strabismus, optic atrophy, various genetic metabolic diseases have been investigated, and the results are presented. Preventive approaches and prenatal diagnostic possibilities are discussed and the importance of genetic counseling is emphasized.

Adolescent↗
PubMed1995

Ocular perforation in utero.

Midtrimester amniocentesis has rarely been reported to cause ocular damage. Findings in the literature include corneal perforation, a vascularized corneal leukoma, a non pigmented epithelial cyst of the anterior chamber, eyelid coloboma, microphthalmos, retinal hole, axial myopia and retinal detachment. We describe the case of a paralimbal scleral perforation with iris prolapse, distortion of the pupil, aphakia due to resorption of the lens and a chorioretinal scar possibly caused by an amniocentesis needle.

Adult↗
PubMed1996

[A case of nonrhegmatogenous retinal detachment in Dandy-Walker Syndrome].

A 2-month-old female presented with nonrhegmatogenous retinal detachment in Dandy-Walker syndrome. At the fist examination, coloboma involving the optic disc in both eyes was detected. The left eye showed microphthalmos with sclerocornea, persistent pupillary membrane, hypoplasia of the iris stroma, and bullous retinal detachment near the optic disc. Chromosomal analysis revealed a mosaic pattern: 46, XX/47, XXX. Increased intracranial pressure associated with Dandy-Walker syndrome was detected by a neurosurgeon at the age of 3 months. The patient was followed for several weeks, and then nonrhegmatogenous retinal detachment appeared in the right eye. Subretinal fluid alternately increased and decreased in both eyes. A ventriculo-peritoneal shunt was performed at the age of 6 months, and the retinal detachment was remarkably reduced in both eyes after lowering of intracranial pressure. Coloboma involving the optic disc, sclerocornea, persistent pupillary membrane, hypoplasia of iris stroma, and Dandy-Walker syndrome were thought to be caused by the abnormal development of neural crest cells. We surmised that the retinal detachment in this case might have resulted from a communicating pathway between the subarachnoid space and the subretinal space. We concluded that the etiology of retinal detachment associated with optic disc anomaly should be investigated to determine adequate treatment.

Coloboma↗
PubMedDate not supplied

[Persistent and hyperplastic primary vitreous syndrome. Clinical and therapeutic aspects].

PURPOSE: Persistent hyperplastic primary vitreous (PHPV) is a rare developmental malformation of the eye. This anomaly is usually unilateral and unassociated with other disease. PHPV may have clinical variations: an anterior and/or a posterior one. Diagnosis and treatment are exposed in our paper. METHODS: We study 38 eyes in 34 patients. All patients had an anterior form of PHPV. Nine of them associated a posterior form. Eighteen eyes underwent surgery, the mean postoperative follow-up is 4.7 years. Treatment is discussed, depending on the initial form of PHPV. We report the evolution of the surgical eyes and the untreated eyes. RESULTS: Slit lamp examination and echographic findings (A-scan and B-scan) support the diagnosis. In some cases computed tomography or RMN can be useful. If the cataract is mild in the anterior form of PHPV, treatment of amblyopia and frequent clinical examination can be sufficient. If the cataract is dense, a lensectomy must to be performed. The surgical technique can be difficult. For the eyes with posterior PHPV, the surgical treatment is to be avoided, because of high risk of retinal detachment. CONCLUSION: PHPV may have clinical variations, mostly with cataract as major sign. In purely anterior presentation, in absence of marked microphthalmos, lensectomy can be useful.

Adolescent↗
PubMed1998

[Glaucoma with microcornea; morphometry and differential diagnosis].

To evaluate the characteristics of 10 glaucomatous cases with microcornea, we measured corneal diameter, curvature, axial length, and depth of anterior chamber, and examined the eyes with a specular microscope and an ultrasound biomicroscope. The ten cases examined in this study included 1 case of cornea plana, 2 cases of sclerocornea, 2 cases of nanophthalmos, and 5 cases of anterior microphthalmos. Three of the 10 cases were combined with open angle glaucoma, and the others with closed angle glaucoma. Open-angle glaucoma seemed like developmental glaucoma with angle maldevelopment. The closed angle type may appear at a younger age than in patients who have simple pupilary block. There are probably complex mechanisms related with closed angle glaucoma with microcornea. While differential diagnosis among these cases is relatively easy, we should evaluate how or why the intraocular pressure rises as far as possible before forming a treatment plan for each patient.

Adolescent↗