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Kent W. Small - One of the best experts on this subject based on the ideXlab platform.
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Clinicopathologic findings in Best vitelliform Macular Dystrophy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2010Co-Authors: Qing Zhang, Kent W. Small, Hans E. GrossniklausAbstract:Purpose To correlate the clinical and histopathologic features of Best vitelliform Macular Dystrophy (BVMD).
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North Carolina Macular Dystrophy: clinicopathologic correlation.
Transactions of the American Ophthalmological Society, 2001Co-Authors: Kent W. Small, Nitin Udar, Irene Voo, John G. Flannery, Ben J. GlasgowAbstract:PURPOSE: To describe the clinical and histopathologic findings in a 72-year-old woman with North Carolina Macular Dystrophy. METHODS: Clinical examination was performed by slit-lamp biomicroscopy, indirect ophthalmoscopy, color fundus photography, and focal electroretinography. Histopathologic examination of the enucleated left eye consisted of light microscopy. RESULTS: Light microscopy demonstrated a discrete Macular lesion characterized by focal absence of photoreceptor cells and retinal pigment epithelium. Bruch's membrane was attenuated in the center of the lesion and associated with marked atrophy of the choriocapillaris. Adjacent to the central lesion, some lipofuscin was identified in the retinal pigment epithelium. CONCLUSIONS: North Carolina Macular Dystrophy has both clinical and microscopic appearances of a well-demarcated retinal and pigment epithelial lesion confined to the macula. This is consistent with the clinical impression that it is a focal Macular Dystrophy.
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North Carolina Macular Dystrophy: clinicopathologic correlation
American journal of ophthalmology, 2001Co-Authors: Irene Voo, Nitin Udar, John G. Flannery, Ben J. Glasgow, Kent W. SmallAbstract:Abstract PURPOSE: To describe the clinical and histopathologic findings of a 72-year-old female with North Carolina Macular Dystrophy. METHODS: Observational case report with histopathologic correlation. Clinical examination includes slit-lamp biomicroscopy, indirect ophthalmoscopy, color fundus photography, and focal electroretinography. Histopathologic examination of the enucleated left eye performed with light microscopy. RESULTS: Light microscopy demonstrated a discrete Macular lesion characterized by focal absence of photoreceptor cells and retinal pigment epithelium with attenuation of the Bruch membrane and focal atrophy of the choriocapillaris. Adjacent to the Macular lesion, some lipofuscin was identified in the retinal pigment epithelium. CONCLUSION: North Carolina Macular Dystrophy has both clinical and microscopic appearances of a well-demarcated lesion confined to the macula, which involves the retina, pigment epithelium, and choriocapillaris.
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NORTH CAROLINA Macular Dystrophy (MCDR1∥ IN TEXAS
Retina (Philadelphia Pa.), 1998Co-Authors: Kent W. Small, Charles A. Garcia, Guillermo Gallardo, Nitin Udar, S. YelchitsAbstract:PurposeTo map the gene responsible for causing a Macular degeneration in a Texan family that appears clinically similar to the North Carolina Macular Dystrophy (MCDR1) phenotype.MethodsA single family in Texas had all the typical clinical features of the North Carolina Macular Dystrophy phenotype. O
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A North Carolina Macular Dystrophy phenotype in a Belizean family maps to the MCDR1 locus.
American journal of ophthalmology, 1998Co-Authors: Maurice F. Rabb, S. Yelchits, Nitin Udar, L. Mullen, Kent W. SmallAbstract:Purpose To describe the clinical findings of an autosomal dominant Macular Dystrophy in a family of Mayan Indian ancestry in Belize, Central America, and to determine its molecular genetic relationship with the original North Carolinian family. Methods We performed comprehensive ophthalmic examinations on 56 members of a single family living in Chicago, Illinois, and Belize, Central America. Fundus photography and fluorescein angiography were performed on 17 affected subjects and six affected family members were serially examined over a 12-year period. Blood was collected from 26 individuals, and DNA was extracted for genotyping. Two-point linkage, multipoint linkage, and haplotype analysis was performed. Results In 17 affected individuals, the clinical features were consistent with the diagnosis of North Carolina Macular Dystrophy. Multipoint linkage analysis generated a peak lod score of 5.6 in the MCDR1 region. The haplotype associated with the disease was, however, different from that of the original North Carolinian family. Conclusions This family has an autosomal dominant Macular Dystrophy that is clinically indistinguishable from North Carolina Macular Dystrophy (MCDR1). Our findings indicate that the mutated gene in this Belizean family maps precisely to the same region as that of the North Carolina Macular Dystrophy (MCDR1) locus. This study provides evidence that MCDR1 occurs in various ethnic groups and that there is no evidence of genetic heterogeneity.
Yozo Miyake - One of the best experts on this subject based on the ideXlab platform.
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Occult Macular Dystrophy
Japanese Journal of Ophthalmology, 2015Co-Authors: Yozo Miyake, Kazushige TsunodaAbstract:Occult Macular Dystrophy (OMD) was first reported in 1989 as a hereditary Macular disease without visible fundus abnormalities. Patients with OMD are characterized by a progressive decrease of visual acuity but have normal fundus and fluorescein angiograms with both the rod and cone components of the full-field electroretinograms (ERGs) essentially normal. However, the focal Macular ERGs and multifocal ERGs are severely attenuated. These findings indicate that the retinal dysfunction is confined to the macula. Optical coherence tomography (OCT) has shown structural changes in the outer nuclear and/or photoreceptor layers. Genetic analyses of OMD pedigrees have identified dominant mutations in the RP1L1 gene. However, the same mutations were not detected in sporadic cases, suggesting that several independent mutations can lead to the OMD phenotype. The purpose of this paper is to review the history of OMD, the visual functions determined psychophysically, ERG findings, OCT characteristics and genetic findings in patients with OMD.
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Occult Macular Dystrophy
Japanese Journal of Ophthalmology, 2015Co-Authors: Yozo Miyake, Kazushige TsunodaAbstract:Occult Macular Dystrophy (OMD) was first reported in 1989 as a hereditary Macular disease without visible fundus abnormalities. Patients with OMD are characterized by a progressive decrease of visual acuity but have normal fundus and fluorescein angiograms with both the rod and cone components of the full-field electroretinograms (ERGs) essentially normal. However, the focal Macular ERGs and multifocal ERGs are severely attenuated. These findings indicate that the retinal dysfunction is confined to the macula. Optical coherence tomography (OCT) has shown structural changes in the outer nuclear and/or photoreceptor layers. Genetic analyses of OMD pedigrees have identified dominant mutations in the RP1L1 gene. However, the same mutations were not detected in sporadic cases, suggesting that several independent mutations can lead to the OMD phenotype. The purpose of this paper is to review the history of OMD, the visual functions determined psychophysically, ERG findings, OCT characteristics and genetic findings in patients with OMD.
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RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without Macular Dystrophy
Documenta Ophthalmologica, 2003Co-Authors: Makoto Nakamura, Jason Skalet, Yozo MiyakeAbstract:The aim of this study was to analyze the RDH5 gene in patients with fundus albipunctatus with and without Macular Dystrophy, and correlate the identified mutations with the electrophysiological results. Twenty-one patients from 19 unrelated Japanese families with fundus albipunctatus were examined. Ten unrelated patients had Macular Dystrophy. In 18 patients, either a homozygous or a compound heterozygous mutation in the RDH5 gene was identified. The bright-flash, mixed rod-cone ERG had a negative configuration with reduced a-wave amplitudes after a short period of dark-adaptation (20 or 30 min). After a prolonged dark-adaptation period (2 or 3 h), the waveform attained normal amplitudes in patients without Macular Dystrophy but the a-waves were still subnormal in patients with Macular Dystrophy. The photopic ERG responses were significantly reduced in patients with Macular Dystrophy, indicating that they also had cone Dystrophy. The photopic ERGs were reduced in only some of the patients without Macular Dystrophy. In patients without Macular Dystrophy, the scotopic b-wave amplitudes were nonrecordable or significantly reduced after a short dark-adaptation period but then improved to normal levels. However, they did not fully recover in some patients with Macular Dystrophy. Three patients with Macular Dystrophy in whom a RDH5 gene mutation could not be detected by our routine method had atypical ERG responses. We conclude that RDH5 gene mutations cause a progressive cone Dystrophy or Macular Dystrophy as well as night blindness. The clinical phenotype including electrophysiological responses varied among patients with the RDH5 gene mutations.
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Foveal Thickness in Occult Macular Dystrophy
American journal of ophthalmology, 2003Co-Authors: Mineo Kondo, Hiroko Terasaki, Yasuki Ito, Shinji Ueno, Chang-hua Piao, Yozo MiyakeAbstract:Abstract Purpose Occult Macular Dystrophy (OMD) is an inherited Macular Dystrophy characterized by a progressive Macular dysfunction without any visible fundus abnormality. We studied the foveal thickness in patients with OMD using optical coherence tomography (OCT). Design Observational case series. Foveal thickness by OCT images. Methods Foveal thickness obtained from 22 eyes of 11 patients with OMD was compared with that from 27 eyes of 20 age-matched normal controls. Results Mean foveal thickness in the patients group (96.5 ± 19.5 μm) was significantly thinner than that in the normal controls (133.3 ± 9.0 μm, P U test). Eighteen of 22 eyes with OMD had foveal thickness that were thinner than the lower limit of the normal range. There was no statistically significant correlation between the foveal thickness and visual acuity, age, or duration from onset. Conculusion These results demonstrated that there are significant anatomic changes in the macula of patients with OMD.
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RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without Macular Dystrophy: RDH5 mutations and ERG in fundus albipunctatus.
Documenta ophthalmologica. Advances in ophthalmology, 2003Co-Authors: Makoto Nakamura, Jason Skalet, Yozo MiyakeAbstract:The aim of this study was to analyze the RDH5 gene in patients with fundus albipunctatus with and without Macular Dystrophy, and correlate the identified mutations with the electrophysiological results. Twenty-one patients from 19 unrelated Japanese families with fundus albipunctatus were examined. Ten unrelated patients had Macular Dystrophy. In 18 patients, either a homozygous or a compound heterozygous mutation in the RDH5 gene was identified. The bright-flash, mixed rod-cone ERG had a negative configuration with reduced a-wave amplitudes after a short period of dark-adaptation (20 or 30 min). After a prolonged dark-adaptation period (2 or 3 h), the waveform attained normal amplitudes in patients without Macular Dystrophy but the a-waves were still subnormal in patients with Macular Dystrophy. The photopic ERG responses were significantly reduced in patients with Macular Dystrophy, indicating that they also had cone Dystrophy. The photopic ERGs were reduced in only some of the patients without Macular Dystrophy. In patients without Macular Dystrophy, the scotopic b-wave amplitudes were nonrecordable or significantly reduced after a short dark-adaptation period but then improved to normal levels. However, they did not fully recover in some patients with Macular Dystrophy. Three patients with Macular Dystrophy in whom a RDH5 gene mutation could not be detected by our routine method had atypical ERG responses. We conclude that RDH5 gene mutations cause a progressive cone Dystrophy or Macular Dystrophy as well as night blindness. The clinical phenotype including electrophysiological responses varied among patients with the RDH5 gene mutations.
Frank G. Holz - One of the best experts on this subject based on the ideXlab platform.
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spectral domain optical coherence tomography in adult onset vitelliform Macular Dystrophy with cuticular drusen
Retina-the Journal of Retinal and Vitreous Diseases, 2010Co-Authors: Robert Finger, Peter Charbel Issa, Ulrich Kellner, Steffen Schmitzvalckenberg, Monika Fleckenstein, Hendrik P N Scholl, Frank G. HolzAbstract:PURPOSE The purpose of this study was to investigate morphologic differences in a consecutive case series of patients suffering from adult-onset vitelliform Macular Dystrophy with cuticular drusen (CD) compared with another patient group with a vitelliform lesion only using high-resolution in vivo retinal imaging. METHODS Simultaneous spectral domain optical coherence tomography (870 nm, 40.000 A-scans per second) and confocal scanning laser ophthalmoscopy were performed in 6 patients (12 eyes) with adult-onset vitelliform Macular Dystrophy using a combined instrument (Spectralis HRA+OCT; Heidelberg Engineering, Heidelberg, Germany). RESULTS Mean age was 69 years (59-82 years), and mean visual acuity was 20/80. The vitelliform lesion presented with an accumulation of yellow-gray material with increased fundus autofluorescence. Spectral domain optical coherence tomography imaging showed that the neurosensory detachment was filled with an amorphous homogenously reflective material located between the retinal pigment epithelium and neurosensory retina in the inferior part of the lesion with the superior part being optically empty. The retinal pigment epithelium basal membrane/Bruch membrane band on spectral domain optical coherence tomography showed multiple focal nodules, in analogy to histologic descriptions of CD. Longitudinal observations in a subgroup of patients showed that the vitelliform detachment collapsed with subsequent development of geographic atrophy in patients with CDs. CONCLUSION Cuticular drusen may be an indicator for a generalized retinal pigment epithelium dysfunction. High-resolution spectral domain optical coherence tomography allows to image morphologic differences in adult-onset vitelliform Macular Dystrophy with and without CDs, providing further evidence that adult-onset vitelliform Macular Dystrophy with CDs represents a separate disease entity.
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AUTOSOMAL-DOMINANT Macular Dystrophy SIMULATING NORTH-CAROLINA Macular Dystrophy
Archives of ophthalmology (Chicago Ill. : 1960), 1995Co-Authors: Frank G. Holz, Kevin Evans, Cheryl Y. Gregory, Shomi S. Bhattacharya, Alan C. BirdAbstract:Objective: To characterize an autosomal dominant Macular Dystrophy with highly variable expression that does not fall clearly into a known disease entity. Methods and Patients: Clinical, angiographic, and electrophysiologic data of five affected members in a family of Indian origin were evaluated. Molecular genetic analysis was undertaken to assess whether the gene responsible for the phenotype in this pedigree mapped to a region previously assigned to dominantly inherited Macular dystrophies, including North Carolina Macular Dystrophy. Results: The fundus appearance in the proband simulated stage 3 North Carolina Macular Dystrophy. Affected relatives had features in common with pattern Dystrophy, fundus flavimaculatus with a dark choroid, and dominantly inherited drusen. Linkage to loci assigned to a number of retinal dystrophies principally affecting the posterior pole, including the North Carolina Macular Dystrophy locus, was excluded. Conclusion: The findings support the view that different genotypes are associated with similar phenotypes in autosomal dominant Macular Dystrophy.
Tarun Sharma - One of the best experts on this subject based on the ideXlab platform.
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Occult Macular Dystrophy.
Advances in experimental medicine and biology, 2018Co-Authors: Stephen H. Tsang, Tarun SharmaAbstract:Patients with occult Macular Dystrophy (OMD) are usually middle-aged and have progressive loss of central vision or notice central scotoma, but no significant abnormality is seen in the fundus or fluorescein angiography. Optical coherence tomography (OCT) shows loss of the ellipsoid band in the central area (Fig. 19.1). Full-field electroretinography (ERG) is normal or may show diminished cone response; multifocal ERG reveals diminished amplitude in the central retina.
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North Carolina Macular Dystrophy.
Advances in experimental medicine and biology, 2018Co-Authors: Stephen H. Tsang, Tarun SharmaAbstract:North Carolina Macular Dystrophy (NCMD) has a variable phenotype (Fig. 21.1). Patients are usually infants, in whom the fundus shows a cluster of yellowish-white lesions (like drusen) at the macula (grade 1); sometimes the lesions are confluent (grade 2). As the disease progresses, retinal pigment epithelial (RPE) atrophy sets in, and the lesion may appear excavated like a coloboma (grade 3) or a toxoplasmosis scar with a thick, white, fibrotic rim.
S. Yelchits - One of the best experts on this subject based on the ideXlab platform.
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NORTH CAROLINA Macular Dystrophy (MCDR1∥ IN TEXAS
Retina (Philadelphia Pa.), 1998Co-Authors: Kent W. Small, Charles A. Garcia, Guillermo Gallardo, Nitin Udar, S. YelchitsAbstract:PurposeTo map the gene responsible for causing a Macular degeneration in a Texan family that appears clinically similar to the North Carolina Macular Dystrophy (MCDR1) phenotype.MethodsA single family in Texas had all the typical clinical features of the North Carolina Macular Dystrophy phenotype. O
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A North Carolina Macular Dystrophy phenotype in a Belizean family maps to the MCDR1 locus.
American journal of ophthalmology, 1998Co-Authors: Maurice F. Rabb, S. Yelchits, Nitin Udar, L. Mullen, Kent W. SmallAbstract:Purpose To describe the clinical findings of an autosomal dominant Macular Dystrophy in a family of Mayan Indian ancestry in Belize, Central America, and to determine its molecular genetic relationship with the original North Carolinian family. Methods We performed comprehensive ophthalmic examinations on 56 members of a single family living in Chicago, Illinois, and Belize, Central America. Fundus photography and fluorescein angiography were performed on 17 affected subjects and six affected family members were serially examined over a 12-year period. Blood was collected from 26 individuals, and DNA was extracted for genotyping. Two-point linkage, multipoint linkage, and haplotype analysis was performed. Results In 17 affected individuals, the clinical features were consistent with the diagnosis of North Carolina Macular Dystrophy. Multipoint linkage analysis generated a peak lod score of 5.6 in the MCDR1 region. The haplotype associated with the disease was, however, different from that of the original North Carolinian family. Conclusions This family has an autosomal dominant Macular Dystrophy that is clinically indistinguishable from North Carolina Macular Dystrophy (MCDR1). Our findings indicate that the mutated gene in this Belizean family maps precisely to the same region as that of the North Carolina Macular Dystrophy (MCDR1) locus. This study provides evidence that MCDR1 occurs in various ethnic groups and that there is no evidence of genetic heterogeneity.
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North Carolina Macular Dystrophy Phenotype in France Maps to the MCDR1 Locus
Molecular vision, 1997Co-Authors: Kent W. Small, Bernard Puech, L. Mullen, S. YelchitsAbstract:Purpose: To determine if a family in France, which manifests an autosomal dominant Macular Dystrophy, has North Carolina Macular Dystrophy (MCDR1) and to determine its possible molecular genetic relationship with the original North Carolina family. Methods: A family from Northern France with a Macular Dystrophy underwent comprehensive ophthalmic examinations and were ascertained for genetic studies. Blood collection and examinations were performed on 38 individuals. Fundus photographs with a hand held KOWA camera were obtained on affected subjects. DNA was extracted and genotyping performed using new microsatellite genetic markers, which have recently been found in the MCDR1 (North Carolina Macular Dystrophy) region. Standard two - point linkage and haplotype analysis was performed. Results: Eleven individuals were found with the clinical manifestations of North Carolina Macular Dystrophy. Two - point linkage analysis generated a maximum peak LOD score of 4.5 with a recombination of 0% between D6S1717 and the Macular Dystrophy locus in the French family. The haplotype associated with the disease is, however, different from that of the original North Carolina family. Conclusions: These findings indicate that the Macular Dystrophy gene in this French family maps to the same region as that of North Carolina Macular Dystrophy (MCDR1) locus but that independent mutations are involved. The disease in the French family is clinically and genetically similar to North Carolina Macular Dystrophy. Therefore MCDR1 occurs in various ethnic groups, is present world-wide, and there remains no evidence of genetic heterogeneity for this clinically distinct form of Macular degeneration.
