Optical coherence tomography in Malattia Leventinese

BACKGROUND: Malattia Leventinese (ML) is a genetically homogeneous macular dystrophy with an autosomal dominant mode of inheritance. Ophthalmoscopically it is recognisable by a radial pattern of drusen-like deposits in the macula and by parapapillary deposits, named Forni's verrucosities. The aim of this study is to describe optical coherence tomographic (OCT) findings and to compare them with histological data. PATIENTS AND METHODS: Six patients underwent ophthalmological examination, angiography and OCT. Diagnosis was confirmed by genetic analysis of the R345W mutation. A histopathological study of an ML donor eye was performed. RESULTS: OCT revealed a diffuse RPE-choriocapillaris thickening with nodular features in the macular and parapapillary areas. The protrusions reached as far as the outer nuclear layer. CONCLUSIONS: OCT is a non-invasive technique that provides a cross-sectional picture of the retina comparable to a histological section. In ML, OCT revealed a diffuse alteration of the RPE-Bruch's membrane complex. The macular and parapapillary nodular lesions are the tomographic equivalents of drusen and Forni's verrucosities.     

Ganzfeld and multifocal electroretinography in Malattia Leventinese and Zermatt Macular Dystrophy

BACKGROUND: To show the value of Ganzfeld electroretinography (ERG) in Malattia Leventinese (ML, or Hereditary Dominant Drusen) and Zermatt Macular Dystrophy (ZMD) and to illustrate multifocal electroretinography (mfERG) in 2 cases of ML. PATIENTS AND METHODS: In 15 patients with ML and 14 with ZMD we recorded Ganzfeld ERGs along with clinical examinations. In two patients with ML, and an we also performed a mfERG and an automated and Goldmann perimetry. All patients had a genotypic confirmation of the respective disease. For ERG measurements, the UTAS-3000 system was used, the mfERG was recorded using the RetiScan system. RESULTS: In ML, the visual acuity remained at 0.8 or higher until the 5 (th) or 6 (th) decade of life, followed by a rapid drop. In ZMD, the decrease in acuity began already in the 3 (rd) decade and followed a more continuous time course. The time course of the decrease of the ERG b-wave amplitudes was nearly identical for either disease. The mfERG showed in one case of ML a marked reduction in the macular response density but, in the second case, a normal density response pattern despite large degenerative changes at the posterior pole. In both of these patients, we found no visual field defects. CONCLUSIONS: Patient history and clinical testing raised the suspicion of a hereditary macular dystrophy. By means of Ganzfeld and multifocal electroretinography the course of the disease could be observed. However, definite diagnosis could only be established by genetic identification.     

The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy

Documenta Ophthalmologica - To describe the clinical and genetic findings of patients in the second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). Two...     

Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy)

PURPOSE: To investigate the nature of symptomatic visual disturbance in patients with EFEMP1 retinal dystrophy in the absence of geographic atrophy or choroidal neovascularization. METHODS: Patients presenting to a tertiary referral centre underwent clinical evaluation, fluorescein angiography, colour contrast sensitivity, focal, pattern, and standard electroretinography, electrooculography, scotopic threshold perimetry and dark adaptometry. RESULTS: Clinical features included reduced central vision, difficulty passing from light to dark, and diffuse submacular and peripapillary deposits, which were hyperfluorescent by fluorescein angiography. Colour contrast thresholds were abnormal in all six patients studied and both pattern and focal electroretinograms were abnormal in five of six patients. The scotopic and mixed rod-cone single flash ERG was normal but two patients demonstrated reduced oscillatory potentials and one had borderline delayed 30 Hz responses. Scotopic thresholds were elevated and rod-mediated dark adaptation kinetics were markedly prolonged in all six patients when measured over the central visible confluent deposits. CONCLUSIONS: In patients with EFEMP1 retinal dystrophy with confluent macular deposits, scotopic sensitivity is reduced and dark adaptation kinetics are prolonged over the macular deposits but are normal elsewhere. These results emphasize the localised nature of functional deficits in some patients with EFEMP1 retinal dystrophy and correlate well with the patient's visual symptoms. Symptomatic visual dysfunction may precede the development of clinically evident geographic atrophy or choroidal neovascularization in this disorder.     

Multimodal imaging characterization of peripheral drusen

Graefe's Archive for Clinical and Experimental Ophthalmology - To provide an integrate multimodal imaging characterization of peripheral drusen in the eyes with and without macular signs of...     

Malattia leventinese presenting with subretinal neovascular membrane and hemorrhage

PURPOSE: To report a case of malattia leventinese involving subretinal hemorrhage. METHODS: Case report. RESULTS: Two weeks after initial presentation, the visual acuity of this 34-year-old man decreased to LE: 20/100. Funduscopic evaluation revealed a subretinal hemorrhage involving the center of the foveal in the left eye that was interpreted as secondary to a neovascular membrane on fluorescein angiography. The patient did well after the removal of the submacular material by pars plana vitrectomy. CONCLUSION: Patients with malattia leventinese may occasionally present with submacular hemorrhage. Prompt diagnosis and intervention may enhance the patient's chance for visual improvement.     

A long-term study of morphological and functional developments after central serous chorioretinitis

Of 163 patients suffering from central serous chorioretinopathy, 40 who had been treated by light coagulation and 40 who had been treated conservatively were selected at random. They were examined at intervals averaging 5.7 and 4.6 years respectively after the initial treatment. Central visual acuity, central visual fields and the fundus were examined. The central visual acuity of the light-coagulated patients was normal both after initial treatment as well as at re-examination. In contrast, only one-half of the conservatively treated patients had normal visual acuity following initial treatment. However, after an average of 4.6 years it was normal in 34 cases. Neither quantitatively nor qualitatively was there any significant difference in the functional defects of the central visual fields in the two groups. The incidence of degenerative central retinal changes - above all at the level of the pigment epithelium - was considerably higher in the conservatively treated group than in the light-coagulated one.     

重视眼底形态和功能的综合分析,提高眼底病的诊疗水平

视网膜的形态或功能检查可对视网膜脉络膜病变的发生机制、玻璃体视网膜手术或药物治疗效果进行评估。近十几年来，大量的计算机技术应用于眼科领域，使眼科工作者可以从更多的角度和更高的分辨率了解眼底病变的情况，通过眼底形态学和视功能的综合分析对某些病变有更深入的了解，对以往不能诊断的病变有新的认识。本文对眼底形态和视功能诊断技术的发展及临床应用需注意的问题进行述评。     

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy

Purpose: Gyrate atrophy (GA) is a rare chorioretinal degeneration that results in the deterioration of night and peripheral vision, eventually leading to blindness. The disorder is caused by mutations in the gene encoding ornithine aminotransferase (OAT), causing increased levels of plasma ornithine. Treatment revolves around lowering plasma ornithine levels, with vitamin B6 supplementation being the preferred treatment. Nevertheless, most patients do not respond to this therapy. Here, we report a rare case of vitamin B6-responsive GA caused by a novel mutation in OAT and characterize the presentation with multimodal imaging.

Methods: This is a single-patient case report with a clinical diagnosis based on history, multimodal retinal imaging, laboratory findings, and DNA sequencing analysis. We include a 3D structure prediction of the novel mutant protein.

Results: DNA sequencing analysis demonstrated that there is a homozygous, novel variant c.473A>C: p.Y158S in OAT. Upon undergoing two weeks of vitamin B6 supplementation, the patient exhibited a 28.5% reduction in plasma ornithine levels. In a follow-up visit two years later, plasma ornithine levels were reduced by 24.1% from the levels at initial presentation and disease progression was retarded based on clinical findings.

Conclusion: One novel homozygous missense mutation in OAT was identified and considered to be pathogenic in a patient with GA. The response for the vitamin B6 supplementation was positive, which is rare in all the GA cases reported in the literature. Our data suggests that further studies regarding the relationship between genotype and responsiveness to vitamin B6 should be conducted.     

合理应用黄斑部形态与功能检查,提高黄斑疾病的诊治水平

用于黄斑疾病的形态及功能检查方法较多,如相干光断层成像(OCT)、海德堡共焦激光眼底断层扫描(HRT)、多焦视网膜电图(mfERG)等,各有优劣,应根据病情及目的,合理地、有针对性地综合选用这些形态与功能检查方法,以提高对黄斑疾病的诊断和治疗水平。     

萎缩型年龄相关性黄斑变性形态学及功能学检查技术进展

年龄相关性黄斑变性(age-related macular degeneration,AMD)是50岁以上人群主要的致盲性眼病,其中萎缩型占AMD患病总数的85％ ～ 90％.随着光谱成像、眼底自发荧光、光学相干断层扫描、微视野、多焦视网膜电流图及其他新方法在眼科临床的应用,人们对萎缩型AMD病变的形态及功能改变有了更深入和全面的认识,本文就近年来的相关进展予以综述.     

Chlorphentermine-induced lipidosis in the rat retina: a functional and morphological study

Chronic administration of the cationic amphiphilic anorexigenic drug chlorphentermine to rats has previously been shown to induce extraocular and ocular lipidosis: large numbers of lipidosis —related cytoplasmic inclusions can be found in the pigment epithelium and smaller numbers in the neuroretina. In the present study, female albino Wistar rats were treated orally with chlorphentermine (30–45 mg/kg body weight) for 4–16 weeks. The animals were submitted to electroretinography, and the retinae were prepared for histological investigations. Our histological findings corresponded to previous reports. The changes in electroretinographic parameters were low. The clearest change was a reduction of the b-wave amplitude of 20% after 12 and 16 weeks of treatment compared with the values before drug treatment. The a-wave amplitude did not differ from that in the control group. Lipidosis in the neuroretina may be the reason for functional influences on the b-wave amplitude. The function of the receptor cells, which is represented by the a-wave, appeared unaffected by Chlorphentermine.     

Actin in cultured bovine retinal capillary pericytes: morphological and functional correlation

Actin in cultured bovine retinal capillary pericytes was identified and partially characterized biochemically. The filamentous actin was localized in bovine retinal capillary pericytes using a fluorescent mushroom toxin (nitrobenzoxadiazole-phallacidin) specific for actin. One-dimensional SDS-polyacrylamide-gel electrophoresis of urea-extracted proteins from bovine retinal capillary pericytes revealed a 46,000 MW protein band corresponding to an actin standard, which comprised 7.3% of the total urea-soluble proteins. Actin-activated skeletal muscle myosin Mg2+-ATPase assay, using [gamma-32P]-ATP as substrate, demonstrated functional actin in bovine retinal capillary pericyte extracts after DEAE-cellulose anion-exchange chromatography. The actin-containing protein fractions were eluted at ionic strengths between 0.25 and 0.35 M KCl. The presence of functional actin in pericytes indicated the ability to generate contractile force. This contraction-generating ability may allow pericytes to regulate microvessel caliber and to maintain the integrity of the capillary wall. A lack of this function when pericytes are preferentially lost in diabetic retinal microangiopathy could destabilize the microvessel wall and predispose the capillary to further pathologic changes.     

Correlation between morphological and functional retinal impairment in multiple sclerosis patients.

PURPOSE: To assess whether a correlation exists between optic nerve fiber layer (NFL) thickness and the retinal or visual pathway function in multiple sclerosis (MS) patients previously affected by optic neuritis. METHODS: Fourteen patients with a diagnosis of definite MS were examined. All had been affected by optic neuritis (MSON) with complete recovery of visual acuity (14 eyes included in study). These were compared with 14 eyes from 14 age-matched control subjects. NFL thickness was measured by optical coherence tomography (OCT). Three different measurements in each quadrant (superior, inferior, nasal, and temporal) were taken and averaged. The data in all quadrants (12 values averaged) were identified as NFL Overall, whereas the data obtained in the temporal quadrant only (3 values averaged) were identified as NFL Temporal. Retinal and visual pathway function was assessed by simultaneously recording pattern electroretinograms (PERGs) and visual evoked potentials (VEPs) using high-contrast (80%) checkerboard stimuli subtending 15 minutes and 60 minutes of the visual arc (min arc) and reversed at the rate of two reversals per second. RESULTS: In MSON eyes there was a significant (P < 0.01) reduction in NFL thickness in both NFL Overall and NFL Temporal evaluations compared with the values observed in control eyes. PERG, (15-min arc checks) and VEP (15-min arc and 60-min arc checks), showed a significant (P < 0.01) delay in latency and reduction in amplitude. NFL Overall and NFL Temporal values were significantly correlated (P < 0.01) to the PERG P50 latency and P50 to N95 amplitude recorded with 15-min arc checks. No correlations (P > 0.01) between NFL values and the other electrophysiological data (PERG recorded with 60-min arc checks and VEP recorded with 15-min arc and 60-min arc checks) were found. CONCLUSIONS: There is a correlation between PERG changes and NFL thickness in MS patients previously affected by optic neuritis, but there is no correlation between VEP changes and NFL thickness.     

Effects of contact lenses on corneal endothelium - a morphological and functional study

PURPOSE: To study the corneal endothelial morphological changes and endothelial barrier function in contact lens wearers. METHODS: Specular microscopy and anterior segment fluorophotometry were performed on 116 controls (group 1) and 76 daily wear soft contact lens wearers. Group 2 patients (n = 34) had been wearing contact lenses for less than 5 years and group 3 (n = 42) for more than 5 years. The relationship of corneal thickness, endothelial cell density, hexagonal cell percentage, coefficient of variation in cell area, corneal autofluorescence and corneal endothelial permeability to the contact lens wear duration was studied. RESULTS: The average corneal thickness of contact lens wearers did not differ significantly from controls (0.533 +/- 0.031, 0.538 +/- 0.044, 0.532 +/- 0.031 mm for groups 1, 2 and 3, respectively; p = 0.89). However, there was a significant tendency toward corneal thinning with a longer history of contact lens wear (r = -0.31, p = 0.002 in groups 2 and 3). The percentage of hexagonal cells decreased with both increasing hours of contact lens wear per day (r = -0.36, p < 0.001) and the duration of contact lens wear in years (r = -0.33, p < 0.001), but there was no significant change in endothelial cell density in contact lens wearers. The coefficient of variation in cell size correlated more closely with increased hours of contact lens wear per day (r = 0.35, p = 0.002) than with the duration of contact lens wear in years (r = 0.12; p = 0.31). In the functional study, corneal autofluorescence increased in contact lens wearers (5.13 +/- 0.71 ng/ml in group 1, 6.45 +/- 2.03 ng/ml in group 2 and 7.21 +/- 1.51 ng/ml in group 3, respectively, p < 0.001) and the mean endothelial permeability decreased in contact lens wearers (3.89 +/- 0.95 x10(-4)/cm in group 1, 2.71 +/- 0.73 x 10(-4)/cm in group 2 and 2.95 +/- 0.91 x 10(-4)/cm in group 3, respectively, p = 0.003). CONCLUSIONS: Daily wear soft contact lenses caused morphological changes in the corneal endothelium. With an increasing span of contact lens wear, there was a significantly increased variation in cell size, a decreased hexagonal cell percentage, an evident intercellular dark area and rosette formation. The corneal autofluorescence increased and the overall endothelial permeability decreased as a consequence of contact lens wear. Contact lens wear also caused corneal thinning, and the cornea became thinner with increasing duration of contact lens wear.     

Experimental use of space-retaining substances with extended duration: functional and morphological results

Background: In glaucoma surgery, e.g. cyclodialysis ab interno, to date no viscous substances have been available that stay in the cyclodialysis cleft long enough to prevent scarring. We examined the qualities of two different viscoelastic substances that stay longer in the place of instillation than hyaluronic acid. Methods: We performed cyclodialysis ab interno in 12 eyes of six owl monkeys. The right eyes were treated with the gel with the higher molecular weight, the left eyes using the gel with the lower molecular weight. The baseline data of intraocular pressure and outflow facility were compared to the values measured postoperatively up to the 140th day. Histological examination of the eyes followed. Results: There was no statistically significant difference between the two substances. The mean intraocular pressure decrease was 7.9 (±2.9) mmHg in the right eyes and 4.8 (±2.7) mmHg in the left eyes. The histological examination showed that the gel had remained in the cyclodialysis cleft without signs of inflammation. In contrast to other viscoelastic substances studied previously, the substances in this study performed their space-retaining function without decreasing outflow facility. Conclusion: Both substances are suitable means of improving the rate of success of cyclodialysis ab interno, as they remain where they are instilled long enough to prevent wound scarring in the cyclodialysis cleft.     

Association between visual impairment and functional and morphological cerebral abnormalities in full-term children

PURPOSE: To characterise the nature and degree of ocular disorders and cerebral morphological and functional abnormalities in a population-based group of visually impaired full-term pre-school children. METHODS: Forty-five children who were born at full-term between 1989 and 1995 in V?rmland, Sweden, were reported as being visually impaired. An ophthalmological examination was performed and clinical data regarding mental development and neurological disease were obtained for all children. Cerebral imaging was performed in 35 children. RESULTS: Twenty-six per cent of the children were found to have ocular disorders only. Forty-two per cent had cerebral morphological abnormalities, verified by cerebral imaging, and 65% had signs of cerebral functional abnormalities. In total, 74% were found to have cerebral morphological and/or cerebral functional abnormalities. CONCLUSION: The majority of children with visual impairment, including children with ocular disorders, were found to have cerebral morphological and/or cerebral functional abnormalities. We suggest that any child with visual impairment should therefore undergo cerebral imaging and be examined by a paediatrician in order to establish the correct diagnosis.