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Tenkir Addis - - 2010
Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included ...
Relevancy Score: Relevancy Score: 462
Lengyel D - - 2004
BACKGROUND: In eyes with severe organic defects the question arises if amblyopia therapy makes sense. PATIENTS AND METHODS: Three children are presented in whom despite severe organic eye diseases amblyopia therapy was tried. The first child had a unilateral large macular scar secondary to retinoblastoma treatment, the second a unilateral ...
Relevancy Score: Relevancy Score: 460
Corso-Díaz Ximena - - 2012
Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible for the occurrence of certain congenital eye disorders in humans. To test this hypothesis, we screened NR2E1 for candidate mutations in patients with aniridia and other congenital ocular malformations (anterior segment ...
Relevancy Score: Relevancy Score: 459
Shah Parag K - - 2009
Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of ...
Relevancy Score: Relevancy Score: 457
Stefko S T - - 1997
PURPOSE: To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family. METHODS: Clinical family study. Standard mutation analysis of the PAX2 exons. RESULTS: Unilateral optic pits were present in three generations of one family and were inherited in an autosomal ...
Relevancy Score: Relevancy Score: 455
De Krijger R R - - 1999
We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a ...
Relevancy Score: Relevancy Score: 454
Wilson P W - - 1978
A 21-year-old man demonstrated septo-optic dysplasia. Optic and retinal colobomas were present and panhypopituitarism was documented. Releasing hormone studies showed partial luteinizing hormone (LH) response and no follicle-stimulating hormone response to administration of gonadorelin (LH-releasing hormone); thyroid-stimulating hormone (TSH) and prolactin levels were increased normally after administration of protirelin (thyrotropin-releasing ...
Relevancy Score: Relevancy Score: 453
Fahnehjelm Kristina Teär - - 2003
AIM: To analyse pre- and neonatal data and ocular findings in children with visual impairment caused by posterior ocular malformations. METHODS: Medical records were scrutinized, dried blood spot cards were analysed for virus DNA and ophthalmological assessments were performed in 28 children with optic nerve hypoplasia (ONH) and 10 with ...
Relevancy Score: Relevancy Score: 453
Vogt Gábor - - 2005
AIMS: To attempt the detection of possible etiological factors in the origin of isolated ocular, mainly iris coloboma. METHODS: The data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002, was used. Exposure data and family history were based on (1) prospective medical records, (2) retrospective maternal information, and ...
Relevancy Score: Relevancy Score: 452
Halal F - - 1984
Seven individuals from 3 generations of a French-Canadian family had various combinations of acral, renal, and ocular defects. Acral anomalies varied from mild hypoplastic distal portion of the thumbs, with limited motion at IP joint, to severe thumb hypoplasia and preaxial polydactyly. Renal anomalies varied from mild malrotation to crossed ...
Relevancy Score: Relevancy Score: 451
Hoyt C S - - 1978
Four cases of Aicardi's syndrome are reported. The constant features of this syndrome are infantile spasms, chorioretinopathy, and agenesis of the corpus callosum. The chorioretinopathy appears to be a defect of the pigment epithelium and choroid without significant retinal involvement. Additional ocular features include microphthalmia, colobomas of the optic nerve ...
Relevancy Score: Relevancy Score: 451
Kim Yeonkyung Y Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, - - 2014
CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear ...
Relevancy Score: Relevancy Score: 450
Elder M J - - 1994
Microphthalmos occupies a spectrum from a normal, but small globe, to a globe with multiple anterior and posterior segment abnormalities. This study examines 54 eyes of 27 patients who had bilateral microphthalmos and severe visual impairment or blindness. Congenital cataract was the commonest cause of severe visual impairment (44%), followed ...
Relevancy Score: Relevancy Score: 450
Meythaler H - - 1975
This is a description of a male patient, now 8-years-old, with the syndrome described by Schimmelpennig-Feuerstein and Mims. Characteristic for this clinical picture, which is classified as a phacomatosis, are a striated and sponge-like naevus sebaceus, disorders of the central nervous system taking the form of debility and epileptic attacks, ...
Relevancy Score: Relevancy Score: 449
Russell-Eggitt I M - - 1990
CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of ...
Relevancy Score: Relevancy Score: 449
Cogan D G - - 1978
An eye that had the clinical appearance of a tumour of the nerve head was found on histological examination to have a congenitally large scleral canal with secondary buckling of the overlying retina.
Relevancy Score: Relevancy Score: 448
Yanyali A - - 1993
We managed 19 eyes of 19 patients with serous macular detachment associated with optic nerve pits with photocoagulation of the temporal edge of the optic disc combined with intravitreal injection of an expanding gas. SF6 was used in 8 eyes, and C3F8 in 11 eyes at the initial treatment. Eight ...
Relevancy Score: Relevancy Score: 448
Sammartino A - - 1986
The authors report an unusual case of Rubinstein-Taybi Syndrome, in which alterations such as blepharoptosis, unilateral microphthalmia, bilateral and inferior iris, lens, and choroidal colobomas and unilateral optic nerve pit are present in addition to apparently spontaneous multiple keloids. A histopathological study of the skin and a culture of fibroblasts ...
Relevancy Score: Relevancy Score: 448
Khan Arif O - - 2006
Duane retraction syndrome has been reported in association with structural abnormalities of the eye, including epibulbar dermoid, keratoconus, iris dysplasia, heterochromia iridis, persistent fetal vasculature, cataract, choroidal coloboma, microphthalmia, and optic nerve dysplasia. A novel association, that of bilateral Duane syndrome with bilateral aniridia, is the subject of this report.
Relevancy Score: Relevancy Score: 448
Nell B - - 2010
Diseases of the vitreous, fundus and optic nerve are described and illustrated according to their ophthalmological appearance. Vitreal alterations are commonly of developmental, degenerative, age related, traumatic or inflammatory origin and of minor clinical relevance. In contrast, those affecting the fundus, may be accompanied by visual deficits or blindness. Fundic ...
Relevancy Score: Relevancy Score: 448
Hubert M F - - 1994
Routine ophthalmological examination of over 6,000 untreated Crl:CD(SD)BR rats up to 2 years old, used in toxicologic studies from 1989 to 1992, has provided information on spontaneous retinal changes and their incidence with age. Focal linear retinopathy and coloboma were the most common findings; retinal hemorrhage, saccular aneurysm of the ...
Relevancy Score: Relevancy Score: 448
Mansour A M - - 1991
Conjoined twinning is a rare form of congenital anomaly. The ocular findings in six sets of conjoined twins as well as those reported elsewhere include abnormal optic nerve decussation, pseudosynophthalmos, microphthalmia, abnormal eyelids, orbital encephalocele, occipital encephalocele, and eyelid coloboma. These findings are interpreted as due to deformations from appositional ...
Relevancy Score: Relevancy Score: 447
Bertuzzi S - - 1999
The homeodomain protein Vax1 is expressed in a highly circumscribed set of cells at the ventral anterior midline of the embryonic CNS. These cells populate the choroid fissure of the optic disk, the body of the optic stalk and nerve, the optic chiasm and ventral diencephalon, and the anterior midline ...
Relevancy Score: Relevancy Score: 446
Mayer U - - 1982
Report on the case of a female infant born with an occipital encephalocele and colobomas of the optic disc, chorioid, and retina. These clinical signs together with respiratory disturbances suggest a Joubert syndrome and a Pfeiffer syndrome. The differential diagnosis of these syndromes is discussed. An analysis of the clinical ...
Relevancy Score: Relevancy Score: 446
Salam Aysha A From the Southampton Eye Unit, Southampton University Hospitals Trust, Southampton, Hampshire, - - 2008
Optic disk pits are known as congenital cavitary defects associated with serous detachment of the retina; 75% of such cases do not resolve spontaneously, and surgical management is required. The use of gas or oil tamponade in these cases has been associated with detachment of the retina attributed to the ...
Relevancy Score: Relevancy Score: 445
Tsai P S - - 1999
Only recently have intraocular findings been described in oral-facial-digital syndrome (OFDS), including 5 cases of chorioretinal colobomas and 1 case of optic nerve coloboma. We report a case of a new ocular anomaly associated with this syndrome: a retinal hamartoma in a male infant with OFDS. The patient had bilateral ...
Relevancy Score: Relevancy Score: 444
Ohtsuki H - - 1981
A Japanese girl aged 19 months had generalized convulsions, agenesis of the corpus callosum, peculiar chorioretinopathy, scoliosis and marked retardation of psychomotor development. Pathological investigation revealed polymicrogyria, cortical heterotopias, disorganization of the cerebellar cortex. In ocular histopathology, lacunae were composed of hypo- or depigmented zones of the retinal pigment epithelium ...
Relevancy Score: Relevancy Score: 443
Nishimoto K - - 2001
The PAX2 gene encodes a transcription factor that plays a critical role in the development of the urogenital tract, eyes, ears, and central nervous system. Recently, renal hypoplasia was observed to be part of the renal-coloboma syndrome, which is caused by heterozygous mutations of the PAX2 gene. The renal-coloboma syndrome ...
Relevancy Score: Relevancy Score: 443
Lee B L - - 1996
PURPOSE: To report the presence of posterior segment neovascularization in eyes with optic nerve aplasia. METHODS: Three eyes in two patients with clinical optic nerve aplasia were studied. RESULTS: Examination disclosed posterior segment neovascularization in one eye and progressive posterior segment neovascularization in two eyes. CONCLUSIONS: Posterior segment neovascularization may ...
Relevancy Score: Relevancy Score: 443
Nell B - - 2010
Diseases of the vitreous, fundus and optic nerve are described and illustrated according to their ophthalmological appearance. Vitreal alterations are commonly of developmental, degenerative, age related, traumatic or inflammatory origin and of minor clinical relevance. In contrast, those affecting the fundus, may be accompanied by visual deficits or blindness. Fundic ...
Relevancy Score: Relevancy Score: 443
Gorovoy Ian R - - 2014
Retinal dysplasia occurs in the setting of sporadic and syndromic holoprosencephaly, which often has associated ocular malformations. The pathology of this dysplasia, which includes rosettes, has been previously described. However, its funduscopic findings have not been well documented. The authors present the fundus images of a patient with severe holoprosencephaly ...
Relevancy Score: Relevancy Score: 442
Kim Joan T JT From the Department of Ophthalmology, Rush University Medical Center, Chicago, - - 2011
The purpose of the study was to report a unique case that suggests a communication between a colobomatous eye and the orbit. Case report. Eleven-year-old girl. Gas moved from the vitreous cavity into the orbit during vitrectomy in a colobomatous microphthalmic eye. As this case suggests, there may be an ...
Relevancy Score: Relevancy Score: 442
Franz T - - 1991
Mice homozygous for the Extra-toes mutation (Xt/Xt) die perinatally with multiple malformations involving the brain, the eye, the nasal mucosa, the face and the skeleton. We have investigated the development of the eye defect in Xt/Xt embryos until late gestation In early midgestation, three classes of homozygotes can be identified: ...
Relevancy Score: Relevancy Score: 441
Paulmann H - - 1975
We described extensive and multifocal serous detachment of the neuroretina in cases of Harada's disease, optic head pitting, coloboma of choroid and optic nerve-head and bullous retinal detachment (Gass). Peripapillary serous detachment occurred in an additional case after branch occlusion of central retinal artery. Systemic steroids were useful in Harada's ...
Relevancy Score: Relevancy Score: 441
Quaranta L - - 1998
Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, marked growth retardation, microcrania, typical facies, high-arched palate, and cryptorchidism in males. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital ...
Relevancy Score: Relevancy Score: 441
Font R L - - 1991
Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum, severe mental retardation, and a characteristic chorioretinopathy with lacunar defects. The authors report on a 2-year-old girl with congenital hydrocephaly who was found unresponsive by the baby-sitter and died shortly thereafter. At autopsy, the histopathologic findings, which were ...
Relevancy Score: Relevancy Score: 440
Pollock S - - 1987
A case of the morning glory disc anomaly is reported in which alternating contraction and dilation movements were observed and documented with fundus photographs. The movements are attributed to an anomalous communication between the subretinal and subarachnoid spaces that permits flux of fluid to occur between the two compartments, with ...
Relevancy Score: Relevancy Score: 438
Bassett Erin A EA Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, - - 2010
Appropriate development of the retina and optic nerve requires that the forebrain-derived optic neuroepithelium undergoes a precisely coordinated sequence of patterning and morphogenetic events, processes which are highly influenced by signals from adjacent tissues. Our previous work has suggested that transcription factor activating protein-2 alpha (AP-2alpha; Tcfap2a) has a non-cell ...
Relevancy Score: Relevancy Score: 437
Lalwani Geeta A - - 2007
The authors report using spectral domain optical coherence tomography (OCT) to observe a patient with an optic nerve pit and macular schisis-like spaces. An 8-microm axial resolution prototype spectral domain OCT and stereo fundus photography were used to observe the patient. A macular schisis-like cavity was present at baseline and ...
Relevancy Score: Relevancy Score: 436
Hurn Simon D - - 2006
OBJECTIVE: To record the prevalence and document the types of eye disease in population of Thoroughbred racehorses in Victoria, Australia. DESIGN: Prospective study. ANIMALS: Two hundred four Thoroughbred racehorses. PROCEDURE: All horses and both eyes were examined at four metropolitan and two country racing stable complexes. Ophthalmic exam was performed ...
Relevancy Score: Relevancy Score: 436
Graham John M JM - - 2003
We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have low-set cupped ears with sensorineural hearing loss, normal phallus, pectus excavatum, scoliosis, and short stature. One brother had ...
Relevancy Score: Relevancy Score: 435
Hedels Christian - - 2013
A 57-year-old man presented with a three-month history of a small paracentral scotoma to the left of the fixation point in his left eye. He was previously healthy and used no medication. The best corrected visual acuity (with +1 dioptre sphere) was 1.0 (20/20) in the right eye and 0.9 ...
Relevancy Score: Relevancy Score: 434
Gogate Parikshit - - 2011
Childhood blindness has an adverse effect on growth, development, social, and economic opportunities. Severe visual impairment (SVI) and blindness in infants must be detected as early as possible to initiate immediate treatment to prevent deep amblyopia. Although difficult, measurement of visual acuity of an infant is possible. The causes of ...
Relevancy Score: Relevancy Score: 433
Taylor D - - 2007
Developmental anomalies of the optic nerve are an important and growing cause of lifelong visual handicap and they are often associated with systemic abnormalities. This review focuses on the ocular and systemic aspects of developmental anomalies arising from defects of fetal fissure closure and retinal ganglion cell development, and covers ...
Relevancy Score: Relevancy Score: 433
Velzeboer C M - - 1989
Ophthalmic histopathology is presented in three cases of trisomy 18. The children, who showed typical systemic anomalies, died in the first few days of life. In two cases the cornea was normal, while in one case hypercellularity of the stroma was found and Bowman's and Descemet's layers were absent. A ...
Relevancy Score: Relevancy Score: 433
Lupo Giuseppe G Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge CB2 3DY, United - - 2011
Retinoic acid receptor (RAR) signaling is required for morphogenesis of the ventral optic cup and closure of the choroid fissure, but the mechanisms by which this pathway regulates ventral eye development remain controversial and poorly understood. Although previous studies have implicated neural crest-derived periocular mesenchyme (POM) as the critical target ...
Relevancy Score: Relevancy Score: 432
Sobrier Marie-Laure - - 2005
The pathophysiology of combined pituitary hormone deficiency is just beginning to be elucidated. None of the genes known to be necessary for pituitary development has so far been involved in pituitary gland aplasia in humans. Among these, Hesx1/HESX1, which encodes a homeobox transcription factor, has been shown to be essential ...
Relevancy Score: Relevancy Score: 430
Levy C M - - 1993
The classical features of Kallmann syndrome with anosmia and hypogonadotropic hypogonadism were observed in two sisters aged 13 and 19. They had additional malformations including anosmia, bilateral vesico-ureteral reflux and unilateral hearing loss. One of the girls had unilateral coloboma of the optic nerve. The father had unilateral hearing loss ...
Relevancy Score: Relevancy Score: 429
Martín-Suárez Eva María - - 2009
An 18-year-old male donkey was referred with a history of blindness. On ocular examination a complete bilateral typical colobomatous defect involving iris, ciliary body, lens, choroid, retina and optic nerve was observed. An optic pit was presented at the temporal side of the right optic head. Ophthalmoscopic and fluorangiographic characteristics ...
Relevancy Score: Relevancy Score: 429
Bennett Jeffrey L - - 2002
The field of developmental neurogenetics has burgeoned over the past decade. Through the combined efforts of developmental biologists, geneticists, and clinicians, genetic defects resulting in neuro-ophthalmic disorders such as holoprosencephaly, microphthalmia, dominant optic atrophy, and optic nerve colobomas have been identified and characterized at the molecular level. Experimental studies in ...
Relevancy Score: Relevancy Score: 429
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