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At least 829 records · Page 46Linked to original sources
PubMed1993

Angelman syndrome.

BACKGROUND: Angelman (happy puppet) syndrome is a neuro-developmental condition characterized by an ataxic gait with puppet-like limb movements, paroxysmal bouts of laughter and severe mental retardation. Although considered a rare condition, over 140 cases have been documented since its designation in 1965. To date, only one study has been published investigating the ocular defects of Angelman syndrome. METHODS: In this paper we report the cognitive, motor, systemic, and oculo-visual findings of a 3 year old child with Angelman syndrome. RESULTS: The oculo-visual findings include choroidal hypopigmentation, iris hypopigmentation, strabismus, and hyperopia. CONCLUSIONS: As in many neuro-developmental conditions, early diagnosis is crucial. The ocular findings of fundal/iris hypopigmentation and strabismus with minimal refractive error in conjunction with the cognitive, behavioral, and motoric characteristics the patient exhibits may be the first clues for the diagnosis of Angelman Syndrome in a developmentally delayed child. The initiation of individualized optometric diagnosis and treatment is important for all children with developmental disabilities. The eye care professional should work in concert with speech, occupational, and physical therapists, neurologists, and special educators in the multi-disciplinary treatment and habilitation of all children with disabilities including those with Angelman Syndrome.

Angelman Syndrome↗
PubMed1995

The pre-myopic syndrome.

Considering the social importance of myopia in industrialised countries, this study aimed to research criteria which could determine whether a person might become myopic. For this purpose, a sample of 25 emmetropic (plano to +0.75 D) subjects, who became myopic during the 2 years following the initial eye examination (the pre-myopic group), were compared to a matched sample of subjects who did not become myopic during the same period. The results show at the 95% statistical level of confidence, that the pre-myopes have particular characteristics, such as a loss of physiological hyperopia, a more positive near retinoscopy and near cross-cylinders and tendency to esophoria. The test of dioptric variations* points to a decrease in the dynamics of accommodation as well as non-overlapping of near and far comfort zones.

Adolescent↗
PubMed1996

[Macular fibrosis after surgery of retinal detachment].

PURPOSE: To report the prevalence and visual outcome of macular pucker occurring after retinal detachment surgery, and to analyze its risk factors. METHODS: We retrospectively studied 865 cases of retinal detachment that had been successfully treated in the absence of macular hole or proliferative vitreoretinopathy higher than grade C1. For the statistical analysis, 63 variables were submitted to CHI-square test. RESULTS: Macular pucker occurred in 68 cases (7.7%). Final visual acuity was 0.5 or better in 24 cases, spontaneously in 7 and after macular surgery in 17. In 6 other cases, macular pucker was much less important in terms of visual impairment than coexisting amblyopia or other posterior pole pathology. In the 38 remaining cases, macular pucker was the cause of visual failure, despite macular surgery in 9 of them. Retinal detachment recurred after macular surgery in 2/26 cases. Nine variables were found to correlate with an increased risk of macular pucker: emmetropia, hyperopia, preoperative acuity reduced to light perception-hand movement, macula off, preoperative proliferative vitreoretinopathy (grade B or C1), retinal tears up to 30 degrees, retinal tears larger than 30 degrees, and cumulative retinal break area larger than 3 disks. CONCLUSION: Our results show that macular surgery can be useful in case of macular pucker after retinal detachment surgery. They also suggest that macular pucker and proliferative vitreoretinopathy have some risk factors in common.

Adolescent↗
PubMed1996

Might the refractive state in oculocutaneous albino patients be a clue for distinguishing between tyrosinase-positive and tyrosinase-negative forms of oculocutaneous albinism?

In oculocutaneous albinism (OCA), one can distinguish between a tyrosinase-negative form (no residual activity of the enzyme tyrosinase) and a tyrosinase-positive form (with detectable residual enzymatic activity) and their respective subtypes. In infancy and early childhood the clinical discrimination between tyrosinase-positive OCA and tyrosinase-negative OCA can be very difficult. To date, only the hair-bulb L-dopa incubation test has been helpful in discriminating between the tyrosinase (ty)-negative and ty-positive forms of OCA. In 68 patients with albinism of the eye, 24 had an oculocutaneous form of albinism. We determined the ty relationship either by the L-dopa incubation test (younger patients) or by clinical appearance (older patients). We determined the full cycloplegic refraction in all patients and looked for a possible correlation of the refraction with the ty relationship. Our data suggest that an OCA patient with a hyperopic refractive error of > 4.0 D might have a ty-positive form of OCA. A patient with a moderate to high degree of myopia is more likely to have a ty-negative form of OCA. Determination of ty relationship is more reliable in patients with high degrees of hyperopia and, therefore, in patients with a ty-positive form of OCA. Statistical evaluation of the data was not possible in a sensible way due to the small number of patients involved in the present study.

Adolescent↗
PubMed1997

[Disputed optical correction].

Problems arising from eyeglasses prescriptions can be due either to a fautive prescription (over correction of hyperopia, of astigmatism, ...), either to a fautive writing of the prescription (inversion of axis or sign of a cylinder, inversion of the value RE/LE, ...) or to a poor work by the optician (decentered glasses ...)

Astigmatism↗
PubMed1997

[Risk factors for age-related macular degeneration].

PURPOSE: To present the results of examinations of the risk factors for age-related macular degeneration (AMD) carried out in the last 3 years. MATERIAL AND METHODS: Our clinical material comprised 119 patients, 69 women and 50 men, aged 43-85, mean age 70 years. Using classification according to the worse eye, there were 20 patients with drusen, 27 with atrophic changes and 72 with exudative form and AMD. The following risk factors were evaluated: age, sex, body mass index, history of general medical conditions, cigarette smoking, sun exposure, family history of AMD and ocular conditions such as iris color, lens opacities, hyperopia, gerontoxon and changes in retinal vessels. RESULTS: The significant relationships were found between the development of AMD and the age of patients, as well as between the advanced forms of AMD and the history of cardiovascular diseases and sclerotic changes in retinal vessels, 87% of examined patients have light iris and 52% body mass index above 26. CONCLUSIONS: The studies confirmed the role of age in the development of AMD and indicated cardiovascular disturbances, increased body mass index and light iris as the possible risk factors for AMD that are most worth further studying. The special attention should be also paid to drusen as the risk factor of AMD.

Adult↗
PubMed1976

[Contact lenses for children. Indications and results].

If it is necessary to prescribe contact lenses for children, this correction should be made as soon as possible. As a consequence of the development of soft (hydrophile) lenses, the above mentioned group of patients has increased considerably. In any case, a monolateral aphakia as well as a manifest anisometropia should be corrected by a contact lense to avoid amblyopia, heterotropia and loss of stereoscopic vision. Usually soft lenses are well tolerated, so that patients suffering from aphakia as well as hyperopia should always use this type of lense. Nevertheless, the hard lense still has its indication in treating myopia and high astigmatism.

Child↗
PubMed1998

[Clinical features and genetic analysis in a family with X-linked incomplete congenital stationary night blindness (CSNBi)].

PURPOSE: We describe particular clinical features in a three-generation family with X-linked CSNBi and present the genetic analysis. METHOD: The diagnosis of CSNBi was established on clinical and electrophysiological criteria. Polymorphic DNA markers of the Xp region were analyzed by fluorescent polymerase chain reaction. RESULTS: Clinical findings evidenced an atypical association of both myopia and hyperopia in the same brotherhood. The most interesting feature in this family was the observation of major worsening of the clinical shape between the first and the third generation of affected individuals. DNA analysis did not show significant linkage between the disease and markers of the Xp11-p21 region. Southern analysis did not show expansion of trinucleotide repeat CAG/CTG and CCG/CGG over the three generation. CONCLUSION: Haplotypic analysis together with clinical observations allow to exclude the existence of a myopia gene closely linked to the CSNB2 locus. The clinical anticipation observed in this family does not seem to be linked with trinucleotide repeat expansion CAG/CTG or CCG/CGG.

Adolescent↗
PubMed1976

[Fluorescein angiographic picture of sympathetic ophthalmia (author's transl)].

The fluorescein angiographic picture of sympathetic ophthalmia is described in an instructive case, which first started at the posterior pole. In the acute phase there was a picture of an exudative process with multiple subretinal enlarging hyperfluorecent spots and some dye-pooling. The retinal vasculature was unaffected. In the healing phase a transitory involvement of the optic nerve head was observed. The cicatricial phase was characterized by a coarsening of the pigment pattern of the fundus. In addition to fluorescein angiography the degree of transitory hyperopia was an excellent indicator of the activity of the disease process.

Fundus Oculi↗
PubMed2004

The prevalence of refractive errors among adults in the United States, Western Europe, and Australia.

OBJECTIVE: To estimate the prevalence of refractive errors in persons 40 years and older. METHODS: Counts of persons with phakic eyes with and without spherical equivalent refractive error in the worse eye of +3 diopters (D) or greater, -1 D or less, and -5 D or less were obtained from population-based eye surveys in strata of gender, race/ethnicity, and 5-year age intervals. Pooled age-, gender-, and race/ethnicity-specific rates for each refractive error were applied to the corresponding stratum-specific US, Western European, and Australian populations (years 2000 and projected 2020). RESULTS: Six studies provided data from 29 281 persons. In the US, Western European, and Australian year 2000 populations 40 years or older, the estimated crude prevalence for hyperopia of +3 D or greater was 9.9%, 11.6%, and 5.8%, respectively (11.8 million, 21.6 million, and 0.47 million persons). For myopia of -1 D or less, the estimated crude prevalence was 25.4%, 26.6%, and 16.4% (30.4 million, 49.6 million, and 1.3 million persons), respectively, of whom 4.5%, 4.6%, and 2.8% (5.3 million, 8.5 million, and 0.23 million persons), respectively, had myopia of -5 D or less. Projected prevalence rates in 2020 were similar. CONCLUSIONS: Refractive errors affect approximately one third of persons 40 years or older in the United States and Western Europe, and one fifth of Australians in this age group.

Adult↗
PubMed2006

Prevalence of angle-closure disease in a rural southern Indian population.

OBJECTIVE: To estimate the prevalence of primary angle-closure glaucoma, primary angle closure (PAC), and primary angle-closure suspect (PACS) and its associated risk factors in a rural population in southern India. METHODS: Three thousand and nine hundred thirty-four (81.95%) of 4800 enumerated subjects aged 40 years or older underwent a complete ophthalmic examination, including compression gonioscopy. Glaucoma was diagnosed using International Society of Geographical and Epidemiological Ophthalmology classification. RESULTS: Data were analyzed for 3924 subjects (81.75%). Primary angle-closure glaucoma was diagnosed in 34 subjects (0.87%; 95% confidence interval [CI], 0.58 to 1.16) (27 women, 7 men). The mean intraocular pressure was 20.71 +/- 9.24 mm Hg. One subject (2.94%) was blind. Twenty-eight subjects (0.71%; 95% CI, 0.45 to 0.98) were diagnosed to have PAC (21 women, 7 men). Eleven subjects (39.3%) had an intraocular pressure greater than 21 mm Hg, 13 subjects (46.43%) had peripheral anterior synechiae, and 4 subjects (14.29%) had both. Two hundred forty-six subjects (6.27%; 95% CI, 5.51 to 7.03) had PACS (168 women, 78 men). Primary angle closure and primary angle-closure glaucoma were more common in women (age-adjusted odds ratio, 3.02; 95% CI, 1.66 to 5.51) with an increasing prevalence with age. Increasing intraocular pressure was associated with the disease (odds ratio, 1.14; 95% CI, 1.09 to 1.19). There was no association with hypertension and hyperopia. Axial length and anterior chamber depth were longer in the normal group than in the 3 groups with angle closure (P<.05). Women had shorter axial lengths than men (P<.001) in the angle closure groups. CONCLUSIONS: The overall prevalence of primary angle closures (PAC and primary angle-closure glaucoma) in a rural population of southern India was 1.58%. There was a female preponderance, and the disease tends to be asymptomatic.

Adult↗
PubMed2007

Complex trait genetics of refractive error.

Refractive errors (myopia, hyperopia, and astigmatism) are complex heterogeneous disorders of the human eye and are ideal for genetic investigation. Moderate to severe refractive errors can predispose individuals to poor visual development, various types of glaucoma, misshapen corneal surfaces, premature cataracts, and loss of retinal integrity, which can lead to detachment. Knowledge of genetic mechanisms involved in refractive error susceptibility may allow treatment to prevent progression or to further examine gene-environment interactions. Early genetic predisposition detection for developing severe refractive errors may be useful for efficient and cost-effective screening program design. This review explores the genetic mechanisms associated with nonsyndromic refractive error development known to date.

Animals↗
PubMed1978

Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.

A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying of the hair, freckled pigmentation of pale skin, hypoplastic heterochromia irides, heterochromia of the ocular fundi, congenital sensorineural hearing loss, and autosomal dominant heredity. This family differs from those previously reported in that none of its members showed dystopia of the inner canthi or lower puncta. In addition, four siblings had the combination of hyperopia-estropia-amblyopia, as well as ocular albinism, manifested by foveal hypoplasia and transilluminable irides. Observations on this family support prior suggestions of heterogeneity in WS.

Abnormalities, Multiple↗
PubMed1983

Choroidal folds and refractive errors associated with orbital tumors. An analysis.

Twenty patients with unilateral exophthalmos secondary to orbital tumors underwent fundus photography; 16 underwent fluorescein angiography. Choroidal folds were found in 15 eyes. The location of each tumor with respect to the globe was determined by computed tomography. In addition, most patients underwent B-scan ultrasonography and surgical exploratory procedures. Choroidal folds were more common in patients with greater amounts of exophthalmos and with anteriorly located tumors. Moreover, the pattern of choroidal folds generally reflected the location of the tumor within the orbit. Comparison with the uninvolved fellow eyes showed that preoperative refractive errors were usually shifted toward hyperopia with intraconal tumors, whereas extraconal tumors were typically associated with higher astigmatic errors on the involved side.

Diagnosis, Differential↗
PubMed1984

New findings in posterior amorphous corneal dystrophy.

Eight members of a family spanning five generations were found to have posterior amorphous corneal dystrophy. This rare abnormality was noted in both its centroperipheral and peripheral forms. The following five heretofore unrecognized features were noted: (1) hyperopia, (2) flattened corneal topography, (3) anterior iris surface and stromal abnormalities, (4) fine iris processes extending to Schwalbe's line for 360 degrees, and (5) extension of the opacity to the limbus. The presence of this dystrophy in a 6-month-old family member further suggests the possibility that it is a congenital abnormality.

Adult↗
PubMed1985

Risk factors of branch retinal vein occlusion.

A case-control study of 225 patients with branch retinal vein occlusion (BRVO) and 100 age-matched controls was conducted to assess potential clinical risk factors for BRVO. Male gender, hypertension, and hyperopia were significantly more prevalent in patients with BRVO. There was no significant association with race, diabetes, or chronic open-angle glaucoma.

Aged↗
PubMed1986

Hereditary pigmented paravenous chorioretinal atrophy.

An affected, but asymptomatic, mother and her three sons presented with pigmented paravenous chorioretinal atrophy. The patients had coarse pigment clumps and areas of chorioretinal atrophy in a paravenous distribution. The severity of chorioretinal changes was variable; two of the patients had macular involvement. Signs of vitreoretinal degeneration were seen in all patients; the sons had associated hyperopia and esotropia. Electroretinography revealed decreased photopic responses with normal scotopic responses in five of six eyes tested. To our knowledge, this is the second account reported of familial occurrence of pigmented paravenous chorioretinal atrophy. The present pedigree is compatible with X-linked or dominant inheritance.

Adult↗
PubMed1987

Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome.

Seven related patients had a progressive pigmentary retinal degeneration, characterized by nyctalopia, visual field restriction, and cystic macular degeneration in younger patients and a macula of nonspecific atrophic appearance in older patients. In addition, each patient had high hyperopia (+9.50 to +16.00) and nanophthalmos (axial lengths, less than 20 mm), with diffuse choroidal thickening on ultrasound. Younger patients had slitlike anterior chamber angles; older patients developed progressive synechial angle closure and eventual glaucoma. Chromosomes were normal. On electroretinographic testing, younger patients had absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times; older patients had severely diminished or extinguished electroretinograms. This family appears to represent a newly recognized autosomal-recessive syndrome.

Adult↗