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At least 757 records · Page 42Linked to original sources
PubMed2003

Management of strabismus in nanophthalmic patients: a long-term follow-up report.

PURPOSE: The purpose of this study is to identify the characteristics of strabismus that coexist with nanophthalmos and to report the results of strabismus surgery performed on these small eyes. DESIGN: Retrospective, consecutive, noncomparative interventional case series. PARTICIPANTS: Fifteen bilateral nanophthalmic patients, of whom five underwent horizontal muscle surgery, were included in this study. METHODS: Chart review. The clinical examination included visual acuity assessments using the linear Snellen and the Lea charts, slit-lamp and fundus examinations, intraocular pressure, and axial length measurements. The orthoptic examination consisted of measurements of ocular deviations using the prism cover test with an accommodative target at both near and distance with and without refractive correction, assessment of ocular motility with ductions and versions, binocularity with Worth's four-dot test, and the Titmus test. Amblyopia was treated with part-time occlusion. Surgery for the correction of esotropia included bilateral medial rectus recessions or recess-resect procedures. MAIN OUTCOME MEASURES: Magnitude of strabismic deviation, best-corrected visual acuity, and the level of binocular vision achieved were monitored. RESULTS: The average age of enrollment in the study was 4.7 (range, 1-12) years. The patients were followed for an average of 7.0 (range, 4-14) years. The mean axial length was determined as 18.4 mm (range, 15.5-20.7). The mean refractive error in spherical equivalents was measured as +9.9 and ranged between +4.0 and +15.0 diopters. Five patients (33%) had nonaccommodative esotropia, four (27%) had partially refractive esotropia, four (27%) had microesotropia, and two (13%) had exotropia. Five patients, all having nonaccommodative esotropia, underwent surgery for the correction of ocular misalignment. Diminishing the surgical dose in these small eyes resulted in undercorrections. Despite patching, 3 patients (20%) had unilateral and 12 patients (80%) had bilateral amblyopia at the conclusion of the study. CONCLUSIONS: Strabismus in nanophthalmos usually manifests as nonaccommodative and partially refractive esotropia. Medial rectus recession should be applied with care to prevent adduction deficit and convergence insufficiency. Otherwise, there seems to be no need for decreasing the surgical dose with regard to the smaller axial length. Amblyopia tends to be persistent in these patients.

Accommodation, Ocular↗
PubMed1982

Nanophthalmos with uveal effusion: clinical and embryologic considerations.

Three brothers were found to have nanophthalmos as evidenced by marked hyperopia, decreased global axial length, and shallow anterior chambers. The thickness of the lens, measured with A-scan ultrasound biometry in two cases, was much greater than normal. Choroidal thickening with shallow retinal detachments without breaks was found in those patients. Fluorescein angioscopy demonstrated leaks beneath the serous retinal detachments in one. The spontaneous presence of choroidal effusions and retinal detachments in nanophthalmic patients has been reported only rarely. The present findings emphasize that careful examination of the posterior segment should be done prior to anterior segment surgery in these patients to alert the surgeon to the possibility of serious intra- and post-operative choroidal effusions and retinal detachments. An attempt is made to explain some of the clinical findings in nanophthalmos by extrapolating from results obtained on experimental animals. It is postulated that the increased lens size in nanophthalmos may be due to the abnormal accumulation of a factor influencing lens fiber differentiation. The overall small size of the eye may be the result of the formation of a smaller than usual optic vesicle anlage.

Aged↗
PubMed1997

Congenital malignant teratoid neoplasm of the eye and orbit: a case report and review of the literature.

BACKGROUND: Medulloepithelioma is a tumor of the primitive medullary epithelium overlying the ciliary body. Most become evident early in life, and they may be malignant, although distant metastases are rare. The purpose of this report is to describe a unique case of congenital malignant teratoid neoplasm of the eye and orbit. METHOD: A patient with a congenital malignant teratoid tumor of the eye and orbit is described, and a detailed histopathologic study of the ocular findings with a review of the literature is presented. RESULTS: Histopathologic study showed that the lesion was a malignant teratoid neoplasm with a large orbital extension. Several intracranial structural abnormalities were identified. CONCLUSION: The tumor described herein must be added to the differential diagnosis of congenital orbital masses. The clinician should be alert to the association of this lesion with complex intracranial abnormalities.

Diagnosis, Differential↗
PubMed2000

Uveal effusion syndrome: clinical features, surgical treatment, histologic examination of the sclera, and pathophysiology.

PURPOSE: To clarify clinical features and pathophysiology and to evaluate surgical outcome of subscleral sclerectomy for primary uveal effusion syndrome. DESIGN: Prospective, consecutive noncomparative case series. PARTICIPANTS: Nineteen eyes of 16 patients diagnosed with uveal effusion syndrome treated in our clinic between 1989 and 1998. METHODS: Patients were examined by routine ophthalmologic examinations, fluorescein and indocyanine green angiography; measurement of the axial length of the eyeball; magnetic resonance imaging; and echography. Subscleral sclerectomy (sclerectomy under the scleral flap) was performed at the equator on all patients. Histologic examination of excised sclera was carried out on all samples. Patients were followed for outcome over time. MAIN OUTCOME MEASURES: Reattachment of the choroid and retina with resolution of the serous fluid. RESULTS: Three subgroups were identified: In type 1, nanophthalmic eye; the eyeball is small (average axial length 16 mm) and high hypermetropic (average +16 diopters); in type 2, the eyeball size is normal (average axial length 21 mm) with small refractive error; and in type 3, the eyeball size is normal. Histologically, types 1 and 2 demonstrated abnormal sclera with disorganization of collagen fiber bundles and deposits of proteoglycans in the matrix, whereas type 3 showed normal sclera. Subscleral sclerectomy was effective for types 1 and 2, inducing postoperative resolution of the subretinal fluid. However, type 3 eyes were not helped by this technique. CONCLUSIONS: Primary uveal effusion syndrome is caused by abnormalities of the sclera and increased resistance to transscleral fluid outflow as subscleral sclerectomy is an effective treatment in types 1 and 2 only, correct preoperative classification is essential for early surgical management.

Adult↗
PubMed1999

Retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report.

OBJECTIVE: Although the associations of retinitis pigmentosa (RP) with nanophthalmos/microphthalmos and RP with optic disc drusen have previously been recognized, the concurrence of all three features, as far as the authors are aware, has not previously been reported. DESIGN: Case report. RESULTS: The authors report a sporadic case of nanophthalmos, RP, and optic nerve drusen with the additional complication of chronic angle closure glaucoma. CONCLUSIONS: Visual loss may be secondary to the complications of nanophthalmos, RP, or optic nerve drusen. Chronic angle closure may be caused by choroidal effusion with serous retinal detachment, which may, in turn, cause a pseudo-RP picture. It is therefore important to recognize the possible association of true RP with nanophthalmos as a cause for visual deterioration.

Aged↗
PubMed2001

Proboscis lateralis: a case report.

Proboscis lateralis is a rare facial anomaly resulting in incomplete formation of one side of the nose. We report a left-sided proboscis lateralis case of a 9 months old male with left-sided heminasal aplasia, microphthalmi, coloboma iris and retina and an arachnoid cyst in the temporal fossa of the brain. We present the clinical, radiological features of this unusual case.

Abnormalities, Multiple↗
PubMed2000

Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters.

Microphthalmia-associated transcription factor (MITF) affects the development of many types of cells, including melanocytes and retinal pigment epithelium (RPE). MITF consists of at least three isoforms, MITF-A, MITF-H and MITF-M, differing at their amino-termini and expression patterns. Here, we characterize the structural organization of the human MITF gene. The gene contains at least four isoform-specific first exons, exons 1A, 1H, 1B and 1M in the 5' to 3' direction, each of which encodes the unique amino-terminus of a given isoform, including newly identified MITF-B. The 5'-flanking regions of these isoform-specific exons are termed promoters A, H, B and M, respectively, which showed different promoter activities, as judged by transient transfection assay. Promoter A directs the expression of a reporter gene in RPE, cervical cancer and melanoma cells, whereas promoter M is functional only in melanoma cells. Promoter H showed the significant activity in RPE and cervical cancer cells but not in melanoma cells. In contrast, the 1.7 kb 5'-flanking region of exon 1B showed no noticeable promoter activity in these cell lines. Therefore, alternative promoters provide the MITF gene with the diversity in transcriptional regulation and the capability of generating structurally different protein isoforms.

Amino Acid Sequence↗
PubMed1997

Immunohistochemical characterization of the suprachiasmatic nucleus and the intergeniculate leaflet in the hereditary bilaterally microphthalmic rat.

Immunohistochemical observation was performed in the suprachiasmatic nucleus (SCN) and the intergeniculate leaflet (IGL) of hereditary bilaterally microphthalmic rats without the optic nerve on both sides. In the microphthalmic rats, volume of the SCN reduced to ca. 70% of the normal and numbers of the vasoactive intestinal polypeptide (VIP)-like immunoreactive (lir) neurons were significantly decreased. Although the arginine vasopressin (aVP)- and the VIP-lir neurons distributed in the dorsomedial and the ventrolateral part of the SCN, respectively, as reported in the normal one, somatostatin-lir neurons, localizing mainly in a border area between the dorsomedial and the ventrolateral region of the normal SCN, were shifted to the ventral part of the SCN in the microphthalmic rats. The ventral part of the SCN was covered with neuropeptide Y (NPY)-lir fibers in both normal and mutant rats. The IGL was hardly delineated cytologically in the lateral geniculate nucleus (LGN) of the mutant rats. NPY-lir neurons were found in the dorsal part of the ventral LGN, in contrast to their even distribution in the normal IGL. These findings suggest that the IGL-SCN tract remains in the hereditary microphthalmic rats without the retinal projections.

Animals↗
PubMed1995

Insight into the microphthalmia gene.

The murine microphthalmia gene (mi) is one of the last multi-allelic, classic coat-colour genes to be cloned in the mouse and, similar to many of these genes, encodes an exciting molecule that is is involved in multiple developmental processes. The existence of the numerous alleles has allowed the molecular dissection of the function of the MI bHLH-Zip transcription factor in vivo and offers a unique opportunity to understand the function of a multimeric transcription factor throughout development and in many tissues. It is also the gene mutated in some patients with the human deafness syndrome, Waardenburg's syndrome type II, and hence helps to understand this syndrome.

Alleles↗
PubMed1983

Embryopathic effects of caffeine in the chick.

There is increasing concern about the potential teratogenic effects of caffeine. Laboratory rodents were widely used for the teratological evaluation of caffeine. However, few studies have been carried out in non-mammalian organisms. Caffeine, dissolved in sterile water, was injected into the air sacs of fertile White Leghorn chick eggs at doses of 100, 200, 300, 400, 500, 700, 900, and 1,100 micrograms per egg. Control eggs were injected with an equivalent volume of sterile water (0.1 ml/egg). The embryos were treated at either 48, 72, or 96 hours incubation. On day 9, live embryos were recovered and examined for external malformations after staging and weighing. Treatment with 400 and 1,100 micrograms caffeine at 48 hours incubation resulted in a significantly high incidence of abnormal embryos, compared to the controls. The most common malformations included reduced body, microphthalmia, exencephaly, everted viscera and short neck. A significant number of embryos died following treatment with 1,100 micrograms caffeine at 48 hours incubation, and 400 and 700 micrograms at 72 hours incubation. Embryonic growth was not affected. Even though it is not possible to extrapolate these findings directly to humans, moderation in the consumption of caffeine-containing beverages during pregnancy is recommended.

Abnormalities, Drug-Induced↗
PubMed1985

Neonatal ophthalmology.

This discussion of normal and abnormal findings on routine ophthalmic examination of the foal should prove useful to the equine practitioner who must provide counsel to the concerned owner and/or breeder. Early diagnosis and treatment of ocular abnormalities improve the prognosis for continued function and aid determination of the significance of lesions observed in later life.

Animals↗
PubMed2002

Phacoemulsification and intraocular lens implantation in nanophthalmic eyes: report of a medium-size series.

PURPOSE: To evaluate the outcomes in nanophthalmic eyes that had phacoemulsification and intraocular lens (IOL) implantation. SETTING: Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada. METHODS: Six nanophthalmic eyes of 4 patients had uneventful phacoemulsification and posterior chamber IOL implantation with a retrobulbar or peribulbar block. All operations were performed by 1 surgeon. Patients ranged in age from 41 to 70 years. RESULTS: The visual acuity remained stable or improved in all 6 eyes. Glaucoma control was maintained or improved in 5 eyes. CONCLUSION: The results indicate that small-incision cataract surgery, although challenging, is safe and diminishes the need for prophylactic sclerotomies in these high-risk eyes.

Adult↗