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PubMed1993

[Changes of the diabetic retinopathy score].

Changes of the retinopathy score with the progression of diabetic retinopathy were investigated in 87 eyes of 44 diabetic patients. The previously reported retinopathy scoring system of Yamashita et al., utilizing fluorescein angiography, was used. Factors relevant to an increase of the retinopathy score were determined using quantification analysis (a type of multivariate analysis). The factors assessed were microaneurysms, the extent of retinal nonperfusion, intraretinal microvascular abnormalities, the grade of fluorescein dye leakage from retinal vessels, neovascularization, the grade of macular edema, the HbA1c level and the duration of retinopathy. The retinopathy score increased in 50 eyes (57%) after a mean follow-up period of 24.9 months. The probability of the score increasing in the eyes with advanced background retinopathy was 78%. The probability in eyes with preproliferative or proliferative diabetic retinopathy was 52% or 11%, respectively. The mean increase of the score in one year was 3.0 for all subjects. The increase in the eyes with advanced background, preproliferative or proliferative diabetic retinopathy was 6.1, 2.8 or 0.1, respectively. Our results suggest that this scoring system can effectively detect changes of background and preproliferative retinopathy. According to quantification analysis, the factor most relevant to the increase of the score was retinal nonperfusion. Dye leakage and neovascularization were also relevant, in descending order.

Diabetic Retinopathy↗
PubMed1996

G106R rhodopsin mutation is also present in Spanish ADRP patients.

A large family affected with autosomal dominant retinitis pigmentosa (ADRP) with a sectorial phenotype showed a previously described (G to A) mutation in the rhodopsin gene resulting in the substitution of a glycine residue by an arginine in codon 106 of rhodopsin. This mutation shows some unusual characteristics, such as initial pathology of the inferior retina, superior visual field with normal disc and retinal vessels, and ERG findings that show a modest reduction in both cone and rod amplitudes with normal implicit times. The Gly 106 Arg mutation has been previously reported in American and British patients. Its presence in a Spanish ADRP family confirms that it and its homogeneous associated phenotype are geographically widespread.

Adolescent↗
PubMed1985

[Retinal findings in the hereditary persistence of fetal hemoglobin and glucose-6-phosphate dehydrogenase deficiency (G-6-PD deficiency)].

Peripheral arteriolar occlusions of the retinal vessels and the 'black sunburst sign' as the first stage of sickle-cell retinopathy (Goldberg 1976) were found in a 34-year-old black patient from West Africa with hereditary persistence of fetal hemoglobin (HPFH) and glucose-6-phosphate dehydrogenase deficiency (G-6-PD-D). The patient's son was found to have HPFH without G-6-PD-D, his daughter HPFH as well as G-6-PD-D. Ophthalmoscopic findings in the two children were normal. In the mother - a white German without clinical symptoms - neither HPFH nor G-6-PD-D were found. This is the first description of the typical picture of 'sickle-cell retinopathy' in a patient with HPFH combined with G-6-PD-D. HPFH is not associated with any retinal symptoms or hematological abnormalities. Hemolytic crises induced by fava beans or drugs in G-6-PD-D alone lead to different ocular complications from those found in this patient.

Adult↗
PubMed2000

[Age-related maculopathy. Comparative studies of patients, their children and healthy controls].

BACKGROUND: The aim of this study was to evaluate prospectively whether there are differences in spectrometrically measurable parameters of the fundus between patients with early and late age-related maculopathy (ARM), the children of the ARM patients (F1 generation) and normals. METHOD: Using the "Jenaer Imaging Spectrometer", retinal oxygen saturation, xanthophyll, and intrinsic fluorescence were measured; the spatial distribution of xanthophyll was determined using the Rodenstock SLO 101 model. RESULTS: Xanthophyll is reduced in late ARM as compared to the F1 generation and the control group (alpha < 0.01). The different fluorescence spectra, measured at shortwave and at longwave excitation, suggest the presence of more than one fluorophore. Furthermore, the components of the fluorophores seem to be different between patients with ARM and their F1 generation. The longwave autofluorescence is age-dependent only in late ARM (r2 = 0.81). For the first time, we found an alteration in oxygen saturation in retinal vessels in patients with ARM. CONCLUSIONS: Xanthophyll is reduced only in late ARM. Autofluorescence and oxygen saturation are different between ARM patients, the F1 generation and normals, however, we were not able to identify a genetically based predisposition concerning the parameters studied.

Adult↗
PubMed1975

Histochemical localization of intraocular copper foreign bodies.

Alizarin blue, rhodanine, and rubeanic acid stains cytochemically localized copper in rabbit eyes harboring intravitreal copper foreign bodies of varying copper composition. Local deposition presented in small amounts in areas adjacent to the foreign body (fibrous capsule, adjacent retina, and surrounding macrophages). The localized pattern was more frequent with the 60% copper alloy, when the foreign body was encapsulated or shiny, and when the aqueous copper concentration was normal. The generalized pattern of copper deposition revealed moderate to marked amounts of copper within the following multiple intraocular structures: (1) the posterior cortex of the lens, (2) the vitreous cavity, either in free-floating macrophages or in macrophages on the surface of the retina, (3) the retina, either within monocytic macrophages, Müller cells, or extracellularly in granular clumps, and (4) the fibrous capsule around the foreign body. Copper in several eyes was observed within macrophages that were clustered around the central retinal vessels within the optic nerve. The generalized pattern was frequent with the pure copper foreign body, when the copper foreign body was tarnished, and when copper concentration of the aqueous humor was elevated. There was a direct toxic effect of copper on the lens in the form of local opacification in the posterior cortex but no clinical or histochemical evidence of a Kayser-Fleisher ring or a sunflower cataract.

Alloys↗
PubMed1994

Atypical presentation of Coats disease.

PURPOSE: To highlight the possibility of intraocular calcification in Coats disease and evaluate the ultrasound and computed tomographic findings. METHOD: A 7.5-year-old boy had a 2-week history of unilateral glaucoma and leukocoria with retinal detachment, suggestive of Coats disease. The possibility of retinoblastoma, however, could not be excluded by ultrasound or computed tomographic examination, which revealed a retinal detachment overlying a subretinal mass with calcification. The blind, painful eye was subsequently enucleated. RESULTS: Histopathologically, there were telangiectatic retinal vessels in a fold of the detached retina peripherally and proteinaceous exudate in the subretinal space containing cholesterol clefts and foamy histiocytes, characteristic of Coats disease. There was also a fibro-osseous nodule in the macular area that correlated with intraocular calcification clinically. CONCLUSION: This case provides the first documentation of ancillary corroboration of intraocular bone formation in Coats disease, which, although rare, is an important consideration in the differential diagnosis of retinoblastoma.

Calcinosis↗
PubMed1976

A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect. I. Ophthalmological findings.

Seven patients, 6 females and one male, with progressive cone dystrophy are reported. One patient developed amaurosis in one eye and fere amaurosis in the other. The least affected patient (13 years of age) had fairly good central cone vision, but a rod response only outside the central area. Attenuated retinal vessels, disc pallor and general atrophic appearance without pigmentation were typical findings. Six of the patients originated from 2 sibships. Increasing impairment of vision during pregnancy was seen in two patients. Pathological glucose tolerance, diabetes, liver disease, endocrinological disturbances, and hearing defects were recorded. Thus, this cone dystrophy appears to be part of a disease affecting several organs. The familial occurrence suggests that this disorder is inherited.

Adult↗
PubMed1998

Long-term follow-up of Stargardt's disease and fundus flavimaculatus.

OBJECTIVE: To understand better the shared characteristics of Stargardt's macular dystrophy (SMD) and fundus flavimaculatus (FF) by reviewing the clinical morphologic and retinal function changes in a large group of affected patients. DESIGN: The study design was a retrospective case review. PARTICIPANTS: Fifty-two patients with SMD and 48 patients with FF were observed from 1 to 22 years. INTERVENTION: Visual acuity (VA), visual fields (VFs), fundus photographs (FPs), fluorescein angiography (FA), electro-oculography (EOG), and electroretinography (ERG) were studied at various intervals. MAIN OUTCOME MEASURES: Changes of VA, VF, FP, FA, EOG ratio, and ERG amplitudes and implicit time at different periods in patients with SMD and patients with FF were measured. RESULTS: Visual acuity decreased gradually in both the SMD and FF groups, and once the 20/200 level was reached, little further change occurred. The yellowish flecks associated with these entities faded with time, and areas of retinal pigment epithelial (RPE) and choriocapillary atrophy developed. In advanced longstanding disease, retinal vessel attenuation and peripheral pigmentary changes were noted. Ninety-four percent of patients with FF were noted to have macular dystrophy at their last visit. Patients who had only central lesions did not have peripheral lesions develop. Intrafamilial variation in the funduscopic pattern was shown in four families. The EOG ratio was abnormal in 2.6% of the patients with SMD and in 48.6% of the patients with FF. An abnormal scotopic ERG was noted in 21.1% of the patients with FF and in none of the patients with SMD. The photopic ERG was abnormal in 32.4% of the patients with FF and in 5.4% of the patients with SMD. In patients with FF, a statistical dependence was noted between the duration of the disease and the ERG results, but no such correlation was seen in the SMD group. CONCLUSIONS: Morphologic changes and retinal function deterioration are more severe in patients with FF than in patients with SMD. The duration of the disease has a greater effect on patients with FF than on patients with SMD. These clinical morphologic and physiologic data may be used to supplement laboratory molecular biologic studies and aid in the further classification of these entities.

Adolescent↗
PubMed1997

A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse.

An autosomal dominant retinal degeneration, called Rd4, was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion encompasses nearly all of Chromosome 4. It is homozygous lethal and in heterozygotes is always associated with retinal degeneration. In affected mice, the retinal outer nuclear and plexiform layers begin to reduce at 10 days of age, showing total loss at 6 weeks. The recordable electroretinograms (ERG) showed poorly at 3 to 6 weeks and were barely detected after 6 weeks of age. Retinal vessel attenuation, pigment spots, and optic atrophy appeared in the fundus at 4 weeks of age. Rd4 has not recombined with the inversion in an outcross, suggesting that the Rd4 locus is located very close to or is disrupted by one of the breakpoints of the inversion, either near the centromere or near the telomere. A human homolog would be expected to be located on human chromosomes 1p or 8q.

Animals↗
PubMed1988

Autosomal recessive pericentral pigmentary retinopathy.

A brother and sister, born to consanguineous parents, had pigmentary retinopathy in a pericentral distribution. The retinopathy was noted in infancy when the siblings were examined for strabismus. The optic disks, maculae, and retinal vessels were normal. There was mild reduction in amplitude of both scotopic and photopic electroretinographic responses. Both patients had moderate hyperopic astigmatism and esotropia. The fundus and visual acuity remained unchanged over periods of nine and 13 years in the brother and sister, respectively. Results of ocular examinations on the father, mother, and an older sister were normal. These findings support an autosomal recessive mode of inheritance in this family with pericentral pigmentary retinopathy.

Adolescent↗
PubMed1992

Interphotoreceptor retinoid binding protein induced experimental autoimmune uveitis: an immunophenotypic analysis using alkaline phosphatase anti-alkaline phosphatase staining, dual immunofluorescence and confocal microscopy.

Using a Lewis rat model of IRBP induced EAU, we have examined the progress of leucocytes infiltrating the uveitic eye. APAAP and dual immunofluorescence were used to show that ED7 and 8 (CD11b/CD18) positive monocytes, W3/25 and OX8 (CD4 and CD8) lymphocytes were prominent in the initial inflammatory exudate around the retinal vessels and in the choroid. ED1 positive monocytes were also observed in the choroid. As disease progressed, these cells moved into the inner retina, vitreous and ROS. ED8 positive cells were the first to appear in the ROS. This was followed by the later appearance of ED2 tissue macrophages in the vitreous and ED3 inflammatory macrophages in the vitreous and ROS.

Alkaline Phosphatase↗
PubMed2001

Unusual retinal vasculitis in a patient with protein S deficiency and systemic toxoplasmosis: a case report.

A 28-year old female patient presented with unilateral dropped visual acuity and a central scotoma. Fundus examination and a fluorescein angiogram were suggestive for central retinal vein prethrombosis. Further tests revealed an isolated protein S deficiency for which oral anticoagulation therapy was initiated. Six months later she presented with new symptoms of a right retrobulbar pain on ocular movements. The retinal vessels had normalized with improved visual acuity. Re-evaluation of the fluorescein angiogram taken six months earlier showed an image compatible with unilateral vasculitis. During this six month period persisting high levels of IgG and IgM antibodies against Toxoplasma were observed while no signs of other active infection could be found. This report illustrates that in cases of prethrombosis with vasculitis in a young patient, a full medical examination and a thorough investigation of infectious diseases are warranted.

Adult↗
PubMed2006

Bull's-eye maculopathy in an infant with Leigh disease.

PURPOSE: To report a bull's-eye maculopathy-like fundus abnormality in an infant with Leigh disease. DESIGN: Observational case report. METHODS: We reviewed the medical, ophthalmic, and genetic records of an eight-month-old boy who presented with hypotonia and bilaterally decreased vision. RESULTS: The ophthalmic examination revealed poor fixation, marked hyperopia, attenuated retinal vessels, and bull's-eye maculopathy. A white blood cell mitochondrial DNA analysis demonstrated a T to G mutation at position 8993 in the mitochondrial ATPase 6 gene. A skeletal muscle biopsy was homoplasmic for this mutation, consistent with a severe mitochondrial disorder. CONCLUSION: Leigh disease should be included in the differential diagnosis of patients presenting with neurologic deficits and a bull's-eye maculopathy.

Adenosine Triphosphatases↗
PubMed1999

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.

AIMS: To describe two phenotypic variations of autosomal recessive retinal dystrophy occurring in a consanguineous family in a pseudodominant pattern, resulting from mutations in the ATP binding cassette transporter (ABCR) gene. METHODS: Patients of this family underwent an extensive ophthalmic evaluation, including fundus photography, fluorescein angiography, and electroretinography (ERG). Genetic analysis comprised sequence analysis of the retina specific ABCR gene. RESULTS: Five patients presented with decreased visual acuity in the second decade, central chorioretinal atrophy associated with a central scotoma, and severely decreased photopic and scotopic ERG responses. This clinical picture, which in our opinion resembles a cone-rod dystrophy (CRD), was associated with compound heterozygosity for IVS30+ 1g -->t and IVS40+5g-->a mutations in the ABCR gene. The four remaining patients presented with night blindness in the first decade because of a retinitis pigmentosa-like (RP-like) dystrophy. In addition to a pale "waxy" optic disc, attenuated retinal vessels and bone spicule deposits, a widespread chorioretinal atrophy was observed. The scotopic ERG was extinguished and the photopic ERG was severely diminished. Genetic analysis revealed a homozygous 5' splice mutation IVS30+1g -->t in the ABCR gene. CONCLUSION: Mutations in the ABCR gene can cause clinical pictures resembling autosomal recessive RP and autosomal recessive CRD.

ATP-Binding Cassette Transporters↗
PubMed1995

[Familial exudative vitreoretinopathy].

Familial exudative vitreoretinopathy (FEVR) is an autosomal dominant inherited disease. The developmental abnormality of retinal vessels is the basis of various lesions in FEVR. 11 affected members (21 eyes) from 5 families with FEVR were studied. The emphasis was placed on describing the changes of fundus and fundus fluorescein angiography of the disease. Argon laser photocoagulation was performed on 8 patients (14 eyes) and they were followed for 5 approximately 14 months. The diagnosis, differential diagnosis, complications and treatment of FEVR were discussed with some materials in this paper.

Adolescent↗
PubMed1978

Talc retinopathy.

We observed talc particles in the retinal vessels of nine out of 17 addicts to intravenous methadone. The retinopathy was found in patients who had injected more than 9,000 tablets. In seven the chest roentgenograms showed a diffuse micronodular pattern which progresses to resemble massive pulmonary fibrosis and is associated with severe disability. The ophthalmologist must recognize this entity since he may be the first to identify drug abusers who inject oral medications containing talc. Early detection and counselling may prevent the severe pulmonary complications.

Adult↗
PubMedDate not supplied

Subconjunctival hemorrhage: the first presenting clinical feature of idiopathic thrombocytopenic purpura.

BACKGROUND: Subconjunctival hemorrhage as the first presenting clinical feature of idiopathic thrombocytopenic purpura, to the best of our knowledge, has not been reported earlier. CASE: A 60-year-old woman presented with an isolated finding of subconjunctival hemorrhage. She later developed hemorrhage from retinal vessels and had a single episode of hematuria. OBSERVATIONS: Her blood cell count showed an extremely low platelet count. Her medical history and clinical examination for any other systemic or ophthalmic pathology were negative. Even after treating the patient with blood and platelet transfusion and maintaining her on high doses of systemic steroids, she did not respond well. CONCLUSION: The appearance of spontaneous subconjunctival hemorrhage in a patient should be thoroughly investigated as it can be an initial sign of a grave systemic disorder.

Blood Cell Count↗
PubMed1982

[Variability of visual acuity, dark adaptation and electroretinogram in retinitis pigmentosa].

Clinical and electrophysiological records are of particular importance in tapetoretinal degenerations. In the absence of therapy they are at least a help in establishing a differential diagnosis and a scale of progression of the disease; these in turn lead to improved counselling possibilities. In a retrospective study of 289 patients a great variability of ophthalmoscopic, functional and electrophysiologic findings was observed. The variability was seen both in individual examination of patients of all ages at one point in time, and in genetic pattern, penetrance and expressivity, Criteria for autosomal recessive inheritance were established in 21.3% and for simplex cases in 51.6%. Constriction the retinal vessels was the most reliable ophthalmoscopic finding, seen in 74% of the cases of RP. In 68% of the cases the onset of symptoms started before the age of 20. In 62% of RP patients the visual acuity remained 0.4 or better up to the sixth decade of life. In 40% of the cases the dark adaptation threshold was normal or raised only by up to 1.5 log units. The ERG was absent in 70%, residual in 10%, and subnormal in 20% of RP patients. The residual and subnormal ERGs showed predominantly rod involvement in 77%, equal rod and cone involvement in 17%, and chiefly cone involvement in 6% of 95 cases. The most common associated abnormalities were found to be cataract in 33% and myopia in 22%. (Detailed data on impairment of visual fields and on ERG analysis are published elsewhere: Gurewitsch, K., G. Niemeyer: Rod/cone separation by electroretinography, fundus changes and visual fields in retinitis pigmentosa. In: Techniques in Clinical Electrophysiology of Vision. G. Niemeyer and C. Huber (eds). Docum. Ophthal. Proc. Ser., in press).

Adolescent↗

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