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PubMed1994

Pathologic scotopization: a shortened Nagel-II anomaloscopic micro-screw method.

The Nagel-II micro-screw method uses eleven colour equations between 620 and 560 nm. The luminance settings are given and are based on the data of colour normal individuals. In the shortened version, intended to detect pathologic scotopization, it is ascertained at which position of the micro-screw the patient's colour adjustments drop beneath the level of 60 scale Units. A total of 64 patients was examined. 29 congenital colour defectives and 35 acquired colour defectives. With the shortened micro-screw method the patients can be divided into four groups: (1) a group without pathologic scotopization, which includes congenital protan defectives: (2) a group in which pathologic scotopization starts; (3) a group with evident pathologic scotopization, due to Stargardt's disease and other cone dystrophies; and (4) a group with complete pathologic scotopization, which includes the congenital achromats and the end-stages of the cone dystrophies.

Color Perception Tests↗
PubMed1999

Genomic organization of human DLG4, the gene encoding postsynaptic density 95.

We have determined the exon-intron organization and characterized the 5'-flanking promoter region of DLG4. Encompassing approximately 30 kb, the DLG4 locus is composed of 22 exons that range in size from 28 to 1,218 nucleotides. All splice sites conform to the GT-AG rule, except for the splice acceptor site of intron 5, which is TG instead of AG. Three different exons of DLG4 were found to be alternatively spliced in a subset of tissues. Two of these variants result in altered postsynaptic density 95 (PSD95) isoforms that dramatically truncate the protein. The third splicing variant represents an extension of exon 4 that encodes an additional 33-amino acid segment. Analysis of the core promoter region for DLG4 suggests that the expression of this gene is controlled by a TATA-less promoter using a single transcriptional start site embedded within a CpG island. DLG4 maps to a region on chromosome 17p13.1 known to contain a locus for autosomal dominant cone dystrophy 5. Scanning for mutations in the DLG4 coding region and splice sites was performed in 15 cone dystrophy patients, including probands from five families showing linkage to the DLG4 region. No disease-causing mutations were identified in any patients, suggesting that DLG4 is not the causative gene for this genetic eye disorder.

Amino Acid Sequence↗
PubMed1996

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

A form of autosomal dominant retinitis pigmentosa (ADRP) mapping to chromosome 17p has been reported in a single large South African family. We now report a new family with severe early onset ADRP which maps to 17p. Linkage and haplotype analysis in this family places the ADRP locus in the 5 cM interval between markers AFMc024za5 and D17S1845, confirming the data obtained in the South African family. The discovery of a second 17p linked family may imply that this is one of the more common loci for dominant RP. In addition, the confirmation of an RP diagnosis at this locus is of interest since loci for a dominant cone dystrophy and Leber's congenital amaurosis (LCA1) have recently been linked to the same markers. While the cone dystrophy locus may be allelic with RP, our data and that of Goliath et al show that distinct genes are responsible for dominant RP and Leber's congenital amaurosis on chromosome 17p.

Chromosomes, Human, Pair 17↗
PubMed1990

A late receptor dystrophy in the Labrador retriever.

Dark adapted single flash and light adapted 30 Hz photopic flicker ERGs were recorded from a litter of seven Labrador Retrievers bred from parents affected with generalized progressive rod-cone dystrophy. After an initial increase of b-wave amplitudes from 5 weeks to 4 months similar to the controls, the b-wave amplitudes of the litter were significantly decreased (P less than 0.005) at 7 months. At 21 months the b-wave amplitudes were very low, although some response to 30 Hz photopic flicker was still left. The ERG changes indicated a late onset progressive rod-cone dystrophy which developed after maturation of the retina. The development of this photoreceptor dystrophy has not previously been described.

Animals↗
PubMed2002

ON-pathway disturbance in two siblings.

PURPOSE: To present two clinical cases diagnosed with predominant cone dystrophy and demonstrating early disturbance in the on-centre bipolar cells (ON-pathway). METHODS: Electrophysiological findings are presented in two siblings with predominant cone dystrophy. The subjects showed no remarkable ophthalmoscopic or fluorescein angiographic retinal changes, but demonstrated progressive visual disturbance during their 20s. RESULTS: The electroretinograms (ERGs) showed reduced dark-adapted responses but the positive component of the photopic ERG was absent. Response to 30 Hz flicker was severely reduced. Electroretinograms elicited by long-duration stimuli showed a loss of the b-wave, and the off-response was slightly reduced. In both patients, multifocal ERGs (m-ERGs) were more reduced within the central 10 degrees, where the ON-pathway is normally a major contributor. CONCLUSION: We conclude that these patients may be affected by an abnormality of the synapses of the cone receptors and that their decrease in vision might, at least initially, be due to selective ON-pathway dysfunction.

Adult↗
PubMed1989

The golden tapetal sheen reflex in retinal disease.

A mother and son with dominant cone dystrophy manifested the retinal reflexes seen in Oguchi's disease (mother) and the carrier female of X-linked retinitis pigmentosa (son). Another patient with cone dystrophy (simplex) showed localized areas of a golden reflex in each eye. A patient with juvenile macular dystrophy exhibited a diffuse golden-orange reflex throughout the posterior pole. The latter two patients did not have the Mizuo phenomenon.

Adult↗
PubMed1985

The C-wave in hereditary degenerations of the ocular fundus.

The c-wave of the human direct current ERG may give new insights about the involvement of the retinal pigment epithelium in hereditary degenerations. In our single-sweep recordings from 236 alert patients we saw reduced c-waves not only in vitelliforme macular degenerations but also in dominantly inherited drusen, Stargardt's disease, cone dystrophies, and x-linked retinoschisis. In achromatopsia the c-wave was close to normal. The relationship of the b- and c-wave, however, was altered only in Best's disease, cone dystrophy, and x-linked retinoschisis. We postulate that the c-wave when more severely reduced than the b-wave reflects not merely the dysfunction of the pigment epithelium but more precisely whether this retinal layer is involved earlier than the photoreceptors.

Electroretinography↗
PubMed2000

Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).

Examination of the role of Ca(2+)-binding proteins (CaBPs) in mammalian retinal neurons has yielded new insights into the function of these proteins in normal and pathological states. In the last 8 years, studies on guanylate cyclase (GC) regulation by three GC-activating proteins (GCAP1-3) led to several breakthroughs, among them the recent biochemical analysis of GCAP1(Y99) mutants associated with autosomal dominant cone dystrophy. Perturbation of Ca(2+) homeostasis controlled by mutant GCAP1 in photoreceptor cells may result ultimately in degeneration of these cells. Here, detailed analysis of biochemical properties of GCAP1(P50L), which causes a milder form of autosomal dominant cone dystrophy than constitutive active Y99C mutation, showed that the P50L mutation resulted in a decrease of Ca(2+)-binding, without changes in the GC activity profile of the mutant GCAP1. In contrast to this biochemically well-defined regulatory mechanism that involves GCAPs, understanding of other processes in the retina that are regulated by Ca(2+) is at a rudimentary stage. Recently, we have identified five homologous genes encoding CaBPs that are expressed in the mammalian retina. Several members of this subfamily are also present in other tissues. In contrast to GCAPs, the function of this subfamily of calmodulin (CaM)-like CaBPs is poorly understood. CaBPs are closely related to CaM and in biochemical assays CaBPs substitute for CaM in stimulation of CaM-dependent kinase II, and calcineurin, a protein phosphatase. These results suggest that CaM-like CaBPs have evolved into diverse subfamilies that control fundamental processes in cells where they are expressed.

Amino Acid Sequence↗
PubMed1999

Scanning laser densitometry and color perimetry demonstrate reduced photopigment density and sensitivity in two patients with retinal degeneration.

PURPOSE: To test the feasibility of scanning laser densitometry with a modified Rodenstock scanning laser ophthalmoscope (SLO) to measure the rod and cone photopigment distribution in patients with retinal diseases. METHODS: Scanning laser densitometry was performed using a modified Rodenstock scanning laser ophthalmoscope. The distribution of the photopigments was calculated from dark adapted and bleached images taken with the 514 nm laser of the SLO. This wavelength is absorbed by rod and cone photopigments. Discrimination is possible due to their different spatial distribution. Additionally, to measure retinal sensitivity profiles, dark adapted two color static perimetry with a Tübinger manual perimeter was performed along the horizontal meridian with 1 degree spacing. RESULTS: A patient with retinitis pigmentosa had slightly reduced photopigment density within the central +/- 5 degrees but no detectable photopigment for eccentricities beyond 5 degrees. A patient with cone dystrophy had nearly normal pigment density beyond +/- 5 degrees, but considerably reduced photopigment density within the central +/- 5 degrees. Within the central +/- 5 degrees, the patient with retinitis pigmentosa had normal sensitivity for the red stimulus and reduced sensitivity for the green stimulus. There was no measurable function beyond 7 degrees. The patient with cone dystrophy had normal sensitivity for the green stimulus outside the foveal center and reduced sensitivity for the red stimulus at the foveal center. The results of color perimetry for this patient with a central scotoma were probably influenced by eccentric fixation. CONCLUSION: Scanning laser densitometry with a modified Rodenstock SLO is a useful method to assess the human photopigment distribution. Densitometry results were confirmed by dark adapted two color static perimetry. Photopigment distribution and retinal sensitivity profiles can be measured with high spatial resolution. This may help to measure exactly the temporal development of retinal diseases and to test the success of different therapeutic treatments. Both methods have limitations at the present state of development. However, some of these limitations can be overcome by further improving the instruments.

Adult↗
PubMed1991

[Color vision defects of macular diseases].

Patients with macular diseases such as x-linked juvenile retinoschisis, cone dystrophy, and age-related macular degeneration were studied regarding color vision defects. In 9 of 15 eyes of patients with x-linked juvenile retinoschisis, blue-yellow defects were demonstrated. In the older patients with this dystrophy, color vision defects were more severe than in younger ones. Fluorescein angiography revealed retinal pigment epithelium (RPE) atrophy at the macular area in these older patients. Therefore, it was suggested that the color vision defects were due to dysfunction of the outer sensory retina, occurring secondarily to the inner sensory retina. In patients with cone dystrophy, all the examined eyes showed severe color vision defects. It was proved that the size of the atrophic lesion which when ophthalmoscopically evaluated was found to have some relationship with the degree of color vision defects. In patients with age-related macular degeneration, most of the examined eyes showed color vision defects. Moreover eyes with soft drusen formation and/or RPE detachment usually showed more severe color vision defects than the eyes with hard drusen formation and/or RPE atrophy.

Adolescent↗
PubMed2000

[Macular diseases--application of automated static perimetry and optical coherence tomography].

The usefulness of automated static perimetry and optical coherence tomography in the management of macular diseases has been described. Scotomata in eyes with central serous chorioretinopathy could be evaluated with central 10-degree automated static perimetry. The degree of visual field defects in eyes with the disease varied greatly with mean deviation of -10 dB or less in as many as 10% of the subjects. Although retinitis pigmentosa is a diffuse retinal dystrophy, eyes with a moderately advanced stage of retinitis pigmentosa should be managed as a macular disease, because the functioning retina is confined within the vascular arcade. The progressive nature in this stage of the disease could be demonstrated with a central 10-degree automated static perimetry measured once or twice a year and the use of univariate linear regression of mean deviation, in half of the patients with a mean follow-up period of 5 years. Functional recovery in eyes with exudative age-related macular degeneration after laser surgery or submacular surgery could be evaluated with central 10-degree automated static perimetry. Eyes with increased mean deviation in spite of reduced visual acuity after therapeutic intervention should also be evaluated. Macular function could also be evaluated using a color test. A newly developed color saturation discrimination test was applied to patients with age-related macular degeneration, retinitis pigmentosa, and cone dystrophy. The degree of dyschromatopsia was less in eyes with age-related macular degeneration than in those with retinitis pigmentosa or cone dystrophy with the same level of acuity loss. The highly protrusive nature of the orange-red nodule in eyes with idiopathic polypoidal choroidal vasculopathy was demonstrated with dimensional measurement with OCT. The degree of protrusion was greater than in eyes with serous pigment epithelial detachment, which suggests that the polypoidal lesion is covered with rigid tissues including Bruch's membrane. Parafoveal retinal sensitivity obtained with automated static perimetry was studied in correlation with retinal thickness measured using OCT in eyes with branch retinal vein occlusion showing macular edema without macular non-perfusion or massive retinal hemorrhages. The increased retinal thickness due to macular edema is closely correlated with retinal sensitivity both at the fovea and in the parafoveal area. Eighty-nine phakic eyes of 46 patients with retinitis pigmentosa patients were studied to detect cystoid macular edema using OCT. Cystoid lesions were observed in the macula in 12 eyes in 6 (13%) of 46 patients. Some eyes with OCT-proven cystoid macular edema did not show dye pooling in the fluorescein angiogram. The width of the total area of cystoid lesions was positively correlated with best-corrected visual acuity but the thickness of the neurosensory retina at the center of the fovea was not. OCT findings of successfully repaired macular holes were categorized into 3 groups. Eyes with U-type showed a normal foveal contour and a dark layer corresponding to the outer segment of photoreceptors. Eyes with V-type showed a notch in the surface of repaired neurosensory retina without a dark layer on the retinal pigment epithelium. Those with W-type showed a defect of the neurosensory retina, where the retinal pigment epithelium was exposed. The visual results were excellent in eyes with U-type, but poor in those with W-type.

Adult↗
PubMed1989

Simultaneous foveal and parafoveal electroretinograms in hereditary degeneration of the central retina.

Simultaneous foveal and parafoveal electroretinograms (ERG) in response to two identical checks (6 degrees per side) alternating at constant mean luminance were recorded in 26 patients (52 eyes) affected by central hereditary chorioretinal diseases and in 14 age-matched normal subjects (14 eyes). Patients were divided into four groups according to clinical diagnoses: 1. Stargardt's disease; 2. cone dystrophy; 3. vitelliform degeneration; 4. pattern dystrophy. The amplitude and latency of the foveal ERG and the amplitude ratio between foveal and parafoveal ERG (F:PF ratio) were measured. The mean foveal ERG amplitude was significantly lower than the control mean in all patient groups. The foveal ERG latency showed a trend to a increase in all pathological groups. However, this difference was not statistically significant. The mean value of F:PF ratio was significantly reduced as compared with the control mean in Stargardt's disease and cone dystrophy only. In 46 of 52 affected eyes (88.5%) at least one of the electrophysiological parameters was abnormal. Our results suggest that the simultaneous foveal and parafoveal ERG recording may be a sensitive technique in hereditary degenerations of the central retina. This method may also contribute to a better understanding of cone degeneration pathophysiology.

Adolescent↗
PubMedDate not supplied

Rod-driven focal macular electroretinogram.

PURPOSE: To determine the stimulus conditions required to elicit rod-driven, focal macular electroretinograms (rod FMERGs). METHODS: A blue (lambda(max)=470 nm) stimulus, 5 degrees in size, was imaged at a luminance of 1.5 cd/m(2) on different regions of the human retina. Electroretinograms (ERGs) elicited by this stimulus were recorded from the light- and dark-adapted retina of four subjects without any ophthalmological abnormalities. A subject with cone dystrophy was also tested by this method. RESULTS: Stimulus luminance <==1.5 cd/m(2) did not elicit a response when it was imaged on the optic disc, but higher intensities elicited a small b-wave from stray light. When this stimulus was imaged on the macular area or the 15 degrees temporal retina, an ERG was elicited that had the shape of the full-field scotopic ERG. This stimulus with a luminance of 1.5 cd/m(2) did not elicit a response from stimulation of the macular area of a light-adapted retina but elicited a slow-rising positive b-wave after 30 minutes of dark adaptation. In a subject with cone dystrophy, focal rod response was elicited from the macula, despite no response under photopic conditions. CONCLUSION: We conclude that this stimulus will elicit a response that is derived exclusively from rods and is a focal response with no contribution from stray light.

Adult↗
PubMed1983

Basic phenomena in acquired colour vision deficiency.

Acquired colour vision defects are directly related to the fixation mode: blue-yellow defects in foveolar fixation, blue-yellow or red-green defects in eccentric fixation. The primary localization of a disease can be retraced from the degree of cone damage. Optic nerve diseases essentially lack signs of cone damage. Processes at the level of the choriocapillaris/retinal pigment epithelium induce a non-selective receptor impairment. There are minor signs of cone damage. In cone dystrophies there is selective cone damage. Scotopization indicates a relatively well-preserved rod function.

Adolescent↗
PubMed2001

Scotoma and fixation patterns using scanning laser ophthalmoscope microperimetry in patients with macular dystrophy.

PURPOSE: We used scanning laser ophthalmoscope microperimetry to evaluate the retinal scotoma and the fixation points in the patients with macular dystrophy. METHODS: We studied 10 eyes of five patients with macular dystrophy (three patients with cone dystrophy and two patients with Stargardt disease). The mean patient age was 37 years (range, 13 to 64 years). An estimation of scotoma and fixation points on the retina was performed using scanning laser ophthalmoscope microperimetry. RESULTS: All 10 eyes (100%) had one of two types of dense scotoma: type one was a dense ring scotoma (five eyes, 50%), and type two was a dense central scotoma (five eyes, 50%) that included the center of the fovea. In all eyes with a dense ring scotoma, the fixation points were stable and did not shift. In all eyes with a dense central scotoma, the fixation shifted. The logarithm of minimal angle of resolution of the visual acuity in the eyes with the dense central scotoma was significantly worse than that of eyes with the dense ring scotoma type (P =.005). CONCLUSIONS: Scanning laser ophthalmoscope microperimetry findings demonstrate two types of dense scotoma (dense ring scotoma and dense central scotoma) in the patients with macular dystrophy. The two types of dense scotoma affect the shifting of the fixation points and the stability of fixation and may result in the difference in visual acuity in the patients with macular dystrophy.

Adolescent↗