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At least 901 records · Page 50Linked to original sources
PubMed2000

Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene.

OBJECTIVE: To describe the ophthalmic and genetic findings of a large kindred (UM:H389) with autosomal dominant hemorrhagic macular dystrophy. METHODS: The disease state of family members was documented by dilated fundus examination, electroretinography, color vision tests, fluorescein angiography, measurement of visual fields, biomicroscopy, gonioscopy, and intraocular pressure measurement. Linkage and haplo-type analyses were carried out with markers flanking the Sorsby fundus dystrophy TIMP3 (tissue inhibitor of metalloproteinase 3) gene locus, and mutation analysis was carried out by screening exon 5 of the TIMP3 gene. RESULTS: This 4-generation pedigree with autosomal dominant hemorrhagic macular degeneration has visual symptoms beginning in the sixth decade of life. Several family members developed choroidal neovascular membrane formation in the macula of both eyes. The phenotype overlaps that of Sorsby fundus dystrophy. Some of the affected members have unusual zonularlike radial striations on the anterior lens capsule surface, and glaucoma or ocular hypertension has developed in 2 of them. Involvement of the TIMP3 gene was excluded by linkage, haplotype, and mutation analyses. CONCLUSIONS: The phenotype of this family with autosomal dominant macular dystrophy overlaps that of Sorsby fundus dystrophy. Exclusion of the TIMP3 gene in this family indicates genetic heterogeneity for hemorrhagic macular dystrophy. Anterior segment anomalies may occur with this condition, but cosegregation has not yet been established. CLINICAL RELEVANCE: This study broadens the spectrum of hemorrhagic macular dystrophy by identifying a family in which the TIMP3 gene is not involved. Once the gene is cloned, we are eager to learn whether this gene may be involved in age-related macular degeneration.

Adult↗
PubMed2003

West African crystalline maculopathy.

OBJECTIVE: To describe the findings of a new crystalline maculopathy exclusively affecting elderly members of the Igbo tribe of southeast Nigeria. DESIGN: Retrospective, observational noncomparative case series. METHODS: Six patients referred over a 2-year period to the medical retina consultation service of the King/Drew Medical Center (Los Angeles, Calif) were identified as having a characteristic crystalline maculopathy. Each underwent detailed historical questioning and comprehensive ocular evaluation, including formal retinal examination. Color vision testing, fluorescein angiography, Humphrey visual field analysis, and electrophysiologic assessment were also performed. RESULTS: Each of the 6 patients was an elderly member of the Igbo tribe of southeast Nigeria and demonstrated a unique crystalline maculopathy. A central, superficial cluster of green or yellow, refractile, foveal crystals that were bilateral and asymmetric in distribution was noted in each case. The crystals were benign and unassociated with visual deficit. Retinal sequelae were notably absent and fluorescein angiography results were unremarkable. Additional ancillary testing was generally normal, although 1 patient demonstrated unexplained mild to moderate depression of the scotopic and photopic responses on electrophysiologic analysis. CONCLUSIONS: Elderly members of the Igbo tribe of southeast Nigeria may harbor characteristic bilateral but asymmetric foveal crystals, comprising a novel syndrome of crystalline maculopathy unassociated with obvious visual deficits or retinal sequelae. The etiology of this crystalline maculopathy remains unclear, although genetic, degenerative, and toxic causes are postulated.

Aged↗
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

The visually evoked response. Binocular facilitation and failure when binocular vision is disturbed.

The visually evoked response (VER) caused by the horizontal sinusoidal movement of a display consisting of a checkerboard with 15-minute checks of relatively low contrast oscillating at 6.3 Hz is itself sinusoidal with a frequency of 12.6 Hz. When viewed binocularly, the VER is 25% to 30% greater in amplitude than the sum of the amplitudes for monocular viewing. This binocular faciltation may be a VER correlate of normal binocular single vision. It is lost in small-angle esotropes and in normals whose binocular function is disturbed by a vertical prism placed over one eye. Characteristic curves relating VER amplitude and phase angle to frequency to oscillation of the checker-board display suggest that two "systems" carry information to the visual cortex: a long and a short latency system. In amblyopia, the long latency system may be selectively impaired.

Adult↗
PubMed1980

The long-term visual effects of short-term binocular occlusion of at-risk neonates.

A retrospective study of fifty 5-year-old children whose eyes were patched bilaterally to treat neonatal jaundice was compared with a study of a similar group of fifty 5-year-old children who were treated in the intensive care nursery but whose eyes were not patched. No difference in the incidence of strabismus or loss of stereoacuity was established in these two groups. Despite the experimental evidence documenting changes in the visual cortex and interocular alignment in animals binocularly deprived of visual stimulation near birth, the clinical practice of binocularly patching the eyes of neonates with jaundice does not seem to increase the incidence of subsequent strabismus or loss of stereoacuity.

Animals↗
PubMed1980

An apparent failure of the photoreceptor alignment mechanism in a human observer.

Using the psychophysical Stiles-Crawford function, the orientation of the retinal photoreceptors was shown to be directed toward a region near the center of the eye rather than the pupil in one eye of a human observer. Since an observable pathologic condition was not present, this eye was concluded to represent the first demonstrated instance of a primary global disturbance of the normal receptor alignment mechanism. The examination of this unique observer permits the visual importance of normal receptor orientation to be assessed and allows potential photoreceptor alignment mechanisms to be evaluated.

Adult↗
PubMed1985

Treatment of low vision in fundus flavimaculatus.

Twenty-eight patients with fundus flavimaculatus were evaluated retrospectively after they had undergone examination for and treatment of low vision. Despite poor distance acuity, 27 (96%) of the patients could read 1M (20/50 reduced Snellen) or smaller print with a spectacle lens, and all patients could read standard-sized print (1M text) with some optical aid. Because such uniform improvement is uncommon among patients with low vision, we recommend examination for and trial of low-vision aids for those patients with this disorder who are having visual difficulties.

Adolescent↗
PubMed1987

Age covariance between 100-Hue color scores and quantitative perimetry in primary open angle glaucoma.

Color vision tests have shown promise as an early indicator of optic nerve compromise in primary open angle glaucoma (POAG). In this context, it is of interest to know how well color test performance correlates with an accepted measure of glaucomatous optic nerve damage, such as is provided by quantitative static perimetry. We found correlation values for 96 glaucoma suspects (ocular hypertensive patients) and 110 patients with POAG. No significant correlation values were found for the suspect group when age correction was applied to the color variable. Similarly, for the patients with POAG, age correction of the color test scores reduced all age group correlation values below significance, except for the age group 60 to 69 years. These findings conflict with another recent study reporting significant correlation between Farnsworth-Munsell 100-hue color test scores and visual field performance for glaucoma suspects but which did not correct for age. We interpreted our results for the glaucoma suspects and patients with glaucoma to indicate some independence of mechanisms responsible for early color loss compared with visual field loss.

Adult↗