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Biomedical subjects

B Falsini

Publications and source records attributed to B Falsini.

At least 19 recordsLinked to original sources

Macular flicker electroretinograms in Best vitelliform dystrophy.

PURPOSE: The aim of this study was to evaluate the function of the neurosensory retina in Best vitelliform macular dystrophy (BMD) by recording the focal electroretinogram (ERG) fundamental and 2nd harmonic components, which are known to be dominated by receptoral and postreceptoral activity, respectively. METHODS: FERGs were recorded in response to a uniform field (9 x 9 deg) flickered sinusoidally at either 8 Hz or 32 Hz (peak frequencies for the 2nd and fundamental harmonic, respectively). The fundamental component of the response to the 32-Hz stimulus and the 2nd harmonic of the response to the 8-Hz stimulus were measured in their amplitudes and phases. The fundamental-2nd harmonic amplitude ratio was taken as an index of the relative changes in the FERG components. Eleven patients with BMD and vitelliform stage macular lesions were evaluated. Results were compared with those obtained from 13 patients with Type 2 Stargardt macular dystrophy (STD) according to the Noble and Carr Classification, and 29 normal control subjects. Four BMD and four STD patients were also followed electrophysiologically over a 48 month period. RESULTS: Compared to controls, BMD patients showed losses of both FERG fundamental and 2nd harmonic amplitudes, and an increase in the fundamental and increase in the fundamental-2nd harmonic ratio. STD patients also showed losses of both fundamental and 2nd harmonic, but the fundamental-2nd harmonic ratio was normal. In BMD patients, but not in those with STD, the fundamental amplitude tended to decrease over the follow-up period. CONCLUSIONS: The results indicate that BMD involves neurosensory abnormalities early in the disease process. The increased fundamental-2nd harmonic ratio suggests that a postreceptoral dysfunction may be present in addition to that of photoreceptors. This differs from STD, where losses appear to affect primarily the receptoral retina. Receptoral losses in BMD may progress throughout the medium-term follow up.

Adult

The first and second harmonics of the macular flicker electroretinogram: differential effects of retinal diseases.

We evaluated the effects of retinal diseases on the macular electroretinogram first and second harmonic components, which are dominated by outer and inner retinal activity, respectively. Macular electroretinograms in response to a uniform field (9 degrees x 9 degrees) flickering sinusoidally at either 32 or 8 Hz (peak frequencies of the first and second harmonics, respectively) were recorded in 14 patients with maculopathies involving photoreceptors (e.g., age-related macular degeneration), in 16 patients with postreceptoral macular diseases (e.g., branch occlusion of central retinal artery), and in 38 normal controls. Amplitude and phase of the first and second harmonic response components were evaluated by Fourier analysis. When compared to controls, patients with photoreceptor diseases had reduction in both first and second harmonic mean amplitudes and second harmonic phase delay; patients with postreceptoral diseases had normal first harmonic components but reduced and delayed second harmonic components. A discriminant analysis, by using first and second harmonic values, correctly classified 13 of 14 patients with photoreceptor diseases and 14 of 16 patients with postreceptoral disorders. These results indicate that combined evaluation of the macular electroretinogram first and second harmonic components is a useful test for identifying the site(s) of retinal dysfunction in patients with macular diseases.

Adolescent

Spatial-temporal interactions in the steady-state pattern electroretinogram.

It is currently assumed that steady-state pattern electroretinograms can be obtained only at high rates of pattern reversal. However, steady-state responses can also be obtained at very low temporal frequencies (less than 1 Hz), provided that the reversal is sinusoidal. In five healthy volunteers, we studied the frequency characteristics of the pattern-reversal electroretinogram in response to sinusoidal gratings of 0.4 and 4 c/deg, reversed sinusoidally in contrast at frequencies ranging from 1 to 27 Hz. Steady-state responses dominated by the second harmonic component were obtained at all temporal frequencies tested; the amplitude of the second harmonic changed with stimulus temporal frequency. In the low-temporal-frequency range, stimuli of high spatial frequency appear to elicit larger contribution of generators with sustained or tonic characteristics compared with stimuli of low spatial frequency.

Electroretinography

Detection of glaucomatous damage in patients with osteo-odontokeratoprosthesis.

BACKGROUND: Osteo-odontokeratoprosthesis (OOKP) is an autologous transplantation procedure in which the cornea is replaced by an optical cylinder glued to a biological support. Patients undergoing OOKP surgery may develop a secondary glaucoma whose diagnosis, by means of standard diagnostic procedures, is often doubtful. METHODS: In the present study pattern electroretinograms (PERGs), visual evoked potentials (VEPs), contrast sensitivity, and automated threshold perimetry (Humphrey 30-2) were evaluated in 19 OOKP treated patients with postoperative visual acuities > or = 0.8. Nine patients had had a preoperative secondary glaucoma, while the remaining 10 had no history of glaucoma and normal posterior pole. RESULTS: Results were compared with those obtained from either normal control subjects or from ordinary glaucoma patients. PERG amplitudes and contrast and perimetric sensitivities were reduced in both groups of OOKP patients when compared with normal controls. However, these losses were significantly greater in OOKP patients with glaucoma compared with those with normal posterior pole. VEPs were reduced, compared with controls, only in OOKP patients with glaucoma. These VEP losses were similar to those found in ordinary glaucoma patients. CONCLUSION: Among the tests employed, VEPs showed the best accuracy (79%) in discriminating between glaucomatous and non-glaucomatous OOKP treated eyes. The present results suggest a possible use of the VEP technique for detecting glaucomatous dysfunction after OOKP.

Adult

Pattern electroretinogram in treated ocular hypertension: a cross-sectional study after timolol maleate therapy.

To investigate pattern electroretinogram changes in treated ocular hypertension, we evaluated pattern electroretinogram recordings of 48 hypertensive eyes following an 8-month timolol maleate therapy. During treatment, 27 of 48 eyes had normalized intraocular pressures (15-18 mm Hg), while 21 retained elevated values (21-25 mm Hg). Twenty-eight eyes with untreated hypertension (22-25 mm Hg) lasting at least 8 months, as well as 32 untreated, normotensive eyes served as controls. When compared to untreated normotensive controls, timolol-treated eyes with either elevated or normalized intraocular pressures showed reductions in the mean electroretinographic amplitudes. However, these amplitude reductions were substantially greater in treated eyes with elevated pressures as compared to those with normalized ones. Untreated hypertensive controls showed pattern electroretinogram reductions, with respect to normal values, that were comparable to those of treated hypertensive eyes, but larger than those of treated normotensive ones. These results indicate that, in treated ocular hypertension, pattern electroretinogram losses tend to be associated with moderately increased intraocular pressures in the range of 21-25 mm Hg. Electroretinographic abnormalities may be, at least in part, prevented only by lowering intraocular pressure into a normal range.

Adult

[Wolfram syndrome. Personal experience].

We report on a young patient who suffered from diabetes mellitus and neurosensorial deafness from the age of two. One year later she was noted to have deteriorated vision and the diagnosis of optic atrophy was made, her visual acuity decreased progressively. At the age of six she was admitted to our hospital because of thiamine responsive megaloblastic anemia, a rare clinical feature of Wolfram's syndrome (only 13 cases have been reported to date). Thiamine (75 mg/day) was commenced at a single oral dose with a rapid increase of Hb level after a few days of therapy. The insulin requirement didn't decrease during thiamine therapy, the C-peptide level after glucagon remained almost indosable. No improvement was observed in the deafness and in the optic atrophy. These findings suggest that diabetes mellitus and optic atrophy, in Wolfram's syndrome are not related to thiamine metabolism.

Autoantibodies

Binocular interactions and steady-state VEPs. A study in normal and defective binocular vision (Part II).

BACKGROUND: Recent evidence indicates that an index of binocular activity may be found in some properties of steady-state visual evoked potentials (VEPs), such as amplitude facilitation and phase shortening. We evaluated binocular interactions with steady-state VEPs in normal subjects as well as in patients with concomitant strabismus and defective binocular vision. METHODS: Steady-state (8-Hz) VEPs to counterphased sinusoidal gratings (1.2 c/deg spatial frequency) of low contrast (3.2%) were recorded in 19 esotropic patients and in 18 age-matched controls. Patients had either anomalous retinal correspondence (ARC, n = 10) or suppression (n = 9) in casual seeing conditions (striated glasses). In all subjects, both binocular and monocular VEPs displayed a major component at twice the stimulation frequency (second harmonic), whose amplitude and phase were measured. A binocular interaction index was obtained by comparing binocular VEPs (BVEPs) with the sum (vectorial) of the two monocular VEPs (SMVEPs). RESULTS: In normal subjects, BVEPs were larger in amplitude than SMVEPs (facilitation), and shortened in latency (phase). On average, both ARC and suppression patients displayed loss in amplitude facilitation and absence of phase shortening. However, 50% of ARC patients showed clear VEP facilitation. In both ARC and suppression patients, the amplitude ratio BVEP/SMVEP was negatively correlated with the amount of the angle of deviation. CONCLUSION: These results suggest that losses in amplitude facilitation and phase shortening of binocular steady-state VEPs reflect abnormal binocular interactions associated with different forms of sensorial adaptation in concomitant strabismus.

Adolescent

Presence and further development of retinal dysfunction after 3-year follow up in IDDM patients without angiographically documented vasculopathy.

Abnormalities in neuroretinal function may play a role in the development of diabetic retinopathy. The natural course of diabetic retinal dysfunction in a group of subjects with insulin-dependent diabetes mellitus and with no apparent microvascular alterations in the retina was followed-up with fluorescein angiography and a sensitive electrophysiological technique, i.e., steady-state focal electroretinogram at the macula, for 3 years. Before the beginning and throughout our study, strict glycaemic control was maintained by three or four daily insulin injections under careful monitoring. Analysis of macular electroretinogram provided information from different neural layers. At the first examination, functional activities of postreceptoral neurons were significantly decreased with respect to those of age-matched control subjects. Diabetic patients showed a functional loss of both ganglion cell (0.53 +/- 0.09 vs 0.42 +/- 0.11 microV; t = 5; p = 0.0001) and preganglion cell (0.51 +/- 0.13 vs 0.42 +/- 0.14 microV; t = 2.8; p = 0.007) layers. Diabetes did not alter photoreceptor activity. After 3 years, dysfunction was significantly greater in the preganglion cell layer (0.28 +/- 0.11 microV; t = 6.3; p = 0.0001). Although in some patients further impairment of ganglion cell function was shown, no significant difference was found in 3 years. Photoreceptor function remained unaltered. No vascular abnormalities in the retina were noted after 3 years in this group of patients. Metabolic control was not correlated to functional changes. Our findings suggest that the middle retinal layer is the most sensitive physiological locus of progressive diabetes-induced dysfunction in the absence of angiographically documented abnormalities.

Adolescent

Early selective neuroretinal disorder in prepubertal type 1 (insulin-dependent) diabetic children without microvascular abnormalities.

The duration of diabetes before puberty is not considered relevant to the future development of complications. To evaluate the effects of diabetes on the neural retina, we analysed macular function by steady-state focal electroretinography in 20 prepubescent diabetic children without vascular retinopathy and in 39 sex- and age-matched normal children. The mean (+/- SD) response related to retinal cellular elements between the photoreceptors and ganglion cells was significantly lower in diabetic children than in the control group (0.38 +/- 0.12 vs. 0.51 +/- 0.13 microV; unpaired t-test = 3; P = 0.005). Similarly, ganglion cell function showed a significant impairment in diabetic children with respect to the control group (0.4 +/- 0.13 vs. 0.53 +/- 0.09 microV; unpaired t-test = 5.4; P = 0.0001), whereas the photoreceptors appeared unaffected. Metabolic control and disease duration were not correlated with functional deficits. Our results suggest that before puberty, early diabetes may have a selective effect on the neural retina prior to the appearance of microvascular changes. A focal electroretinogram could identify diabetic children with neurosensory disorders who may have a higher risk of developing microvascular retinopathy.

Age of Onset

Postreceptoral contribution to macular dysfunction in retinitis pigmentosa.

PURPOSE: To understand the sites of macular dysfunction in retinitis pigmentosa by evaluating focal electroretinogram (FERG) fundamental and second harmonic components, which are dominated by the activity of the outer and inner retina, respectively. METHODS: FERGs were recorded in response to a uniform field (9 degrees x 9 degrees) flickered sinusoidally at either 8 Hz or 32 Hz. The fundamental components of the responses to both the 8-Hz and 32-Hz stimuli and the second harmonic of the response to the 8-Hz stimulus were measured in their amplitudes and phases. Normal subjects (n = 17), as well as patients with typical retinitis pigmentosa (n = 22), cone dystrophy (CD, n = 7) and X-linked congenital retinoschisis (XLR, n = 5) served as subjects. The fundamental (32-Hz)-second harmonic (8 Hz) amplitude ratio was taken as an index of the relative function of outer-inner layers of the macula. RESULTS: Compared to controls, patients with retinitis pigmentosa showed losses of both FERG fundamental and second harmonic and an increase of the fundamental-second harmonic ratio. Patients with CD also showed losses of both fundamental and second harmonic, but the fundamental-second harmonic ratio was normal. Patients with XLR had a selective loss of the second harmonic, resulting in an increased fundamental-second harmonic ratio. On average, the fundamental-second harmonic ratio of patients with retinitis pigmentosa tended to increase with age. CONCLUSIONS: The results suggest that in retinitis pigmentosa, both receptoral and postreceptoral sites contribute to macular dysfunction. This differs from CD and XLR, where losses appear more selective for the outer and the inner retina. Postreceptoral losses in retinitis pigmentosa may become larger with increasing age.

Adolescent

The second harmonic of the electroretinogram to sinusoidal flicker: spatiotemporal properties and clinical application.

The photopic, focal electroretinogram elicited by sinusoidal modulation (8 Hz) of the luminance of a uniform field (flicker electroretinogram) presented in the macular region contains two main components: the first harmonic at the stimulus frequency (1F) and the second harmonic at twice the stimulus frequency (2F). Physiologic and clinical studies have demonstrated that the 1F originates in the outer retina, whereas the 2F has multiple postreceptoral sources, with a contribution of the innermost retina. The 2F, unlike 1F, is selectively altered in amplitude and phase in the early stages of optic neuritis and glaucoma. Both 1F and 2F are altered in maculopathies. An additional property of the focal electroretinogram is that the 2F, unlike 1F, has a very limited summation area (i.e., the function relating 2F amplitude with stimulus area is saturated for central stimulus sizes of the order of the macular region). This overrepresentation of the macular activity suggests that the 2F component of the flicker electroretinogram may provide a specific macular test even for full-field stimuli presented through opacities of the optical media.

Cataract

Macular electroretinograms to flicker and pattern stimulation in lamellar macular holes.

Steady-state macular (9 degrees x 9 degrees) electroretinograms in response to either sinusoidal flicker (focal electroretinogram) or counterphased sinusoidal gratings (pattern electroretinogram) were recorded in 14 patients with inner lamellar macular holes, in 4 patients with full-thickness macular holes and in 14 age-matched controls. Fourier analysis of focal and pattern electroretinograms yielded three main components: a first and a second harmonic to flicker, and a second harmonic to pattern. Recent evidence indicates that the first harmonic to flicker is of receptoral origin, whereas the flicker and pattern second harmonics represent, at least in part, the activity of different generators in the inner retina. When compared to controls, patients with inner lamellar holes showed significant amplitude reduction and phase delay for both flicker and pattern second harmonics, but not for the flicker first harmonic. Patients with full-thickness holes showed significant amplitude reduction also for the flicker first harmonic. These results indicate a prevalent functional involvement of the inner retina in lamellar macular holes, which can be clinically detected by evaluating focal and pattern electroretinogram second harmonics.

Adult

Pattern electroretinogram as a function of spatial frequency after retrobulbar optic neuritis.

Steady-state (8-Hz) pattern electroretinograms in response to counterphased sinusoidal gratings of variable spatial frequency (0.6-4.8 c/deg) were recorded in 17 patients who had had retrobulbar optic neuritis in one or both eyes (23 eyes with a clinical history of optic neuritis) and in 21 age-matched normal subjects. Amplitude and phase of the Fourier-analyzed pattern electroretinogram second harmonic were measured. The mean pattern electroretinogram amplitude of patients was significantly reduced compared with that of controls. Amplitude reductions were more marked at intermediate (1-1.4 c/deg) than at lower or higher spatial frequencies. Therefore, the average amplitude versus spatial frequency response function differed significantly in patients compared with controls, displaying a lowpass instead of a band-pass shape. No significant differences in the mean pattern electroretinogram phase were observed between groups at any spatial frequency. These results indicate spatial frequency-dependent abnormalities in the pattern electroretinogram amplitude after optic neuritis, suggesting a specific loss of retinal neurons sensitive to stimuli of intermediate spatial frequencies.

Adult

Macular dysfunction in multiple sclerosis revealed by steady-state flicker and pattern ERGs.

Recent evidence indicates that the 2nd harmonics of steady-state (8 Hz) electroretinograms to either sinusoidal flicker (FERG) or to counterphased gratings (PERG) presented in the macular region (9 degrees) represent different subsets of generators in the inner retina. We evaluated the steady-state macular FERG and PERG 2nd harmonics (2F and 2P, respectively) in 19 normal subjects (19 eyes) and in 23 multiple sclerosis patients (44 eyes; 25 eyes with a history of clinical optic neuritis, and 19 eyes with no history of optic neuritis, subclinical eyes). The mean 2F and 2P amplitudes were significantly reduced, as compared to controls, in both subclinical and optic neuritis eyes. The 2P phase was significantly delayed, as compared to controls, in subclinical eyes, whereas 2F phase was delayed in eyes with optic neuritis. 2F was outside the 95% confidence limits (in amplitude or phase) in 11/19 subclinical eyes and in 25/25 optic neuritis eyes. 2P was outside the normal range in 12/19 subclinical eyes and in 24/25 optic neuritis eyes. These results show that FERG and PERG 2nd harmonics are significantly altered in multiple sclerosis eyes with or without a clinical history of optic neuritis. This finding suggests a dysfunction of inner macular layers which may result from direct retinal involvement or retrograde degeneration.

Adolescent

Pattern electroretinograms and visual evoked potentials in idiopathic intracranial hypertension.

A subclinical visual dysfunction can be detected by psychophysical methods in early-stage papilledema associated with idiopathic intracranial hypertension (IIH). We recorded steady-state pattern electroretinograms (PERGs) and visual evoked potentials (VEPs) to sinusoidal gratings of variable spatial frequency [0.6, 1.0, 1.4, 2.2 and 4.8 cycles/degree (cpd)] in 18 patients with IIH and early papilledema and in 21 age-matched controls. Spatial frequency selective reductions in the mean PERG (at 1-4.8 cpd) and VEP (at 4.8 cpd) amplitudes were found in patients in comparison with controls. The response functions of amplitude versus spatial frequency of patients' PERG and VEP displayed a low-pass shape, whereas in normal subjects PERG and VEP functions showed a band-pass and a high-pass shape, respectively. PERG and VEP abnormalities were found in 14 (77.7%) and 10 (55.5%) out of 18 patients, respectively. Most of these abnormalities involved only selected spatial frequencies (1.4-4.8 cpd). These results indicate spatial-frequency-dependent functional losses on both PERG and VEP in early papilledema, and suggest a potential value of these responses for detecting subtle visual abnormalities in IIH.

Adult

Nonselective loss of contrast sensitivity in visual system testing in early type I diabetes.

OBJECTIVE: Psychophysical methods in patients with diabetes mellitus reveal deficits of central or foveal vision. Our aim was to evaluate the contrast-sensitivity thresholds in 24 insulin-dependent (type I) diabetic patients with a short disease duration and without retinopathy, taking into account metabolic control. RESEARCH DESIGN AND METHODS: The control group consisted of age-matched nondiabetic subjects. None had visual or systemic symptoms. Contrast sensitivity measured at eight different spatial frequencies to sinusoidal bar patterns of 0.6-12.2 cycles/deg can detect functional defects in the spatially sensitive retinal ganglion cells or in higher visual pathways. We performed two different temporal types of contrast-sensitivity testing, dynamic (8 Hz) and static (0 Hz). RESULTS: Significant losses with dynamic contrast-sensitivity test at all but the highest spatial frequencies (i.e., 12.2 cycles/deg) were shown, whereas there was significant attenuation of contrast sensitivity at five spatial frequencies (1.0, 1.4, 2.2, 7.1, and 9.6 cycles/deg) in the static mode. Grating losses (less than 2SD of control means) of contrast sensitivity were found in 33.3% (dynamic) and in 72.9% (static) of eyes of diabetic patients. HbA1c values were positively correlated at variable spatial frequencies (1.0, 1.4, and 2.2 cycles/deg for dynamic test and 0.6, 1.0, 1.4, 2.2, 4.8, and 7.1 cycles/deg for static test). CONCLUSIONS: Our results suggest an early, generally nonselective neuronal damage of visual pathways that occurs before the onset of clinically detectable retinopathy. The visual deficit may be related directly to the effects of diabetes; repetitive minor hypoglycemic insults may contribute more than a marked hyperglycemic condition to the mechanisms underlying physiological changes along the optic nerve.

Adult

Spatial-frequency-dependent changes in the human pattern electroretinogram after acute acetyl-L-carnitine administration.

Acetyl-L-carnitine (LAC) is a neuroactive compound that is thought to be involved in cholinergic transmission. The effects of acute intravenous LAC administration (30 mg/kg) on pattern-evoked electroretinograms (P-ERGs) were evaluated in nine healthy volunteers ranging in age between 21 and 27 years. Nine age-matched, normal subjects treated with a placebo served as controls. Steady-state (8 Hz) P-ERGs recorded in response to counterphased sinusoidal gratings of variable spatial frequency (0.6-4.8 cycles/degree) were obtained before and at 20, 50 and 80 min after LAC or placebo administration. The amplitude and phase of the Fourier-analysed P-ERG second harmonic were measured. As compared with placebo-treated controls, LAC-treated subjects showed a selective P-ERG amplitude increase (Mann-Whitney rank test: P less than 0.05), which was found 80 min posttreatment at a spatial frequency of 4.8 cycles/degree. For the same stimulus a significant (P less than 0.05) P-ERG phase shortening (at 50 min after drug administration) was also found. The spatial frequencies of other stimuli did not show a significant difference between the LAC- and placebo-treated groups. These results indicate that acute LAC administration induces a spatial-frequency-dependent enhancement of the human P-ERG. This is compatible with a cholinergic excitatory effect and suggests a therapeutic role for this compound in retinal dysfunctions with selective vulnerability to medium-high spatial frequencies.

Acetylcarnitine

Detection of inner retina dysfunction by steady-state focal electroretinogram pattern and flicker in early IDDM.

The effects of diabetes on the neural retina before the onset of clinically detectable retinopathy can be investigated with electrophysiological methods. Our aim was to detect early retinal dysfunctions in 60 patients with insulin-dependent diabetes mellitus (IDDM) and with a short duration of disease. We used the steady-state focal (9 degrees field size) electroretinogram (ERG) of the macula in response to luminance modulation of a uniform field (flicker ERG) or to counterphase-modulated sinusoidal gratings (pattern ERG). The harmonic analysis of flicker ERG and pattern ERG yielded three main components: a first and a second harmonic to flicker (1F and 2F, respectively) and a second harmonic to pattern (2P). The 1F is believed to be correlated to photoreceptor activity, whereas 2F and 2P represent different subsets of generators in the inner retina. Results of focal ERG in IDDM patients with no or early retinopathy were compared with age-matched control subjects. Mean 2F and 2P amplitudes were significantly reduced in IDDM patients compared with the control group (P = 0.0001 by analysis of variance). 2P but not 2F amplitude was significantly more reduced in patients with retinopathy than in those without retinopathy (P less than 0.05). 2F but not 2P phase abnormalities were observed in some patients. 2F and 2P alterations were slightly correlated with metabolic control (r = 0.22, P = 0.02) and disease duration (r = 0.28, P = 0.003). 1F was not significantly altered in IDDM patients. Our results suggest that early diabetes causes selective neurosensory deficits of inner retina layers, whereas the photoreceptors appear unaffected.

Adult