Fundus Albipunctatus

05/01/2010 - "A recent study of a mouse model of fundus albipunctatus treated with 9-cis-retinal showed an improvement in visual function and structure. "
10/01/2006 - "Improvement in rod and cone function in mouse model of Fundus albipunctatus after pharmacologic treatment with 9-cis-retinal."

08/01/2012 - "The aim of this study was to describe multimodal retinal imaging of fundus albipunctatus (FA) with the newly identified compound heterozygous RDH5 mutation and to review the relevant literature. "
01/01/2008 - "The lesions that appeared to be indicative of fundus albipunctatus were proven to be palisades between the splitted retinal layers. "
11/01/2003 - "Using prolonged dark adaptometry, standard dark adaptation (DA) and prolonged DA full-field electroretinograms (ERGs), we analysed the retinal function in patients with Bothnia dystrophy (BD), a variant of recessive retinitis punctata albescens (RPA). "
09/01/2000 - "The fundi of mice homozygous for rd6 exhibit phenotypic similarities to the human flecked retinal disorder retinitis punctata albescens. "
02/03/1997 - "Retinitis punctata albescens is a progressive retinal disorder which shows a variety of clinical manifestations. "

01/01/2018 - "In previous studies we demonstrated that oral treatment with the 9-cis-β-carotene rich Dunaliella Bardawil algae powder significantly improved visual and retinal functions in patients with retinitis pigmentosa and fundus albipunctatus. "

08/01/2001 - "Recent studies show that mutations in the gene encoding 11-cis retinol dehydrogenase are associated with fundus albipunctatus. "
08/01/2001 - "The authors screened two index patients diagnosed with fundus albipunctatus for mutations in exons 2 to 5 and exon/intron boundaries of the 11-cis retinol dehydrogenase gene by direct sequencing. "
08/01/2001 - "Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus."
11/01/2000 - "To report a novel compound heterozygous mutation in the 11-cis retinol dehydrogenase (RDH5) gene in a patient with fundus albipunctatus. "
11/01/2000 - "To detect mutations in the RDH5 gene encoding 11-cis retinol dehydrogenase in patients from Japan with fundus albipunctatus. "

03/01/2015 - "The aim of this study is to characterize the clinical features of four unrelated Chinese patients with retinal dehydrogenase 5 (RDH5) retinopathy (fundus albipunctatus) and to identify the genetic defects underlying this disorder. "
02/11/2022 - "Three variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter. "
08/01/2004 - "The severe visual impairment of individuals with mutations in RDH12 is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase. "

05/01/2021 - "A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens."
11/01/2020 - "A retinitis punctata albescens family with biallelic mutations in retinaldehyde-binding Protein 1."
01/01/2020 - "We describe a novel large homozygous deletion in the RLBP1 gene encoding the cellular retinaldehyde-binding protein in a patient of Iranian descent with retinitis punctata albescens. "
01/01/2020 - "A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS."
05/01/2008 - "Bothnia dystrophy (BD) is a variant of recessive retinitis punctata albescens (RPA), caused by the missense mutation R233W in cellular retinaldehyde-binding protein (CRALBP), which is localized in the retinal pigment epithelium (RPE) and Müller cells of the retina. "

06/30/1977 - "Fundus albipunctatus: a clinical study of the fundus lesions, the physiologic deficit, and the vitamin A metabolism."
11/22/2002 - "The dual-substrate specificity of RDH11 explains the minor phenotype associated with mutations in 11-cis-retinol dehydrogenase (RDH5) causing fundus albipunctatus in humans and engineered mice lacking RDH5. "
12/28/2001 - "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus."
06/01/2000 - "At bleaching levels under which patients suffering from fundus albipunctatus could be detected unequivocally, 11-cis-retinol dehydrogenase knockout animals displayed normal dark adaptation kinetics. "
06/01/2000 - "Recently, mutations in the 11-cis-retinol dehydrogenase gene in humans have been associated with fundus albipunctatus. "

09/01/2007 - "We report a case study of Fundus Albipunctatus (FA) due to compound heterozygous mutations in RDH5, the gene encoding for the 11-cis-retinal dehydrogenase (RDH). "
11/22/2002 - "The dual-substrate specificity of RDH11 explains the minor phenotype associated with mutations in 11-cis-retinol dehydrogenase (RDH5) causing fundus albipunctatus in humans and engineered mice lacking RDH5. "
12/28/2001 - "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus."
06/01/2000 - "At bleaching levels under which patients suffering from fundus albipunctatus could be detected unequivocally, 11-cis-retinol dehydrogenase knockout animals displayed normal dark adaptation kinetics. "
06/01/2000 - "Recently, mutations in the 11-cis-retinol dehydrogenase gene in humans have been associated with fundus albipunctatus. "

05/01/2015 - "We demonstrate that this enzymatic model provides a good fit to human post-bleach recovery, for four cases: for rhodopsin regeneration in normal subjects; for psychophysical scotopic dark adaptation in normal subjects; for rhodopsin regeneration and scotopic dark adaptation in fundus albipunctatus patients; and for cone pigment regeneration in normal subjects. "
09/01/1999 - "A prolonged time for dark adaptation is required to produce normal amplitude electroretinograms in fundus albipunctatus as the result of a delay in the regeneration of rhodopsin. "
01/01/1996 - "Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene."
11/01/1987 - "However, fundus appearance, adaptometric findings, and rhodopsin determinations serve to distinguish fundus albipunctatus from other flecked retina diseases."
08/01/2005 - "More than one hundred different mutations in the gene encoding rhodopsin are associated with a group of retinal degenerations including retinitis pigmentosa, congenital stationary night blindness and retinitis punctata albescens. "

02/03/1997 - "The above data suggest that sporadic retinitis punctata albescens is not caused by mutations within the coding sequence of the peripherin/RDS gene."
02/03/1997 - "In this report we studied one sporadic type retinitis punctata albescens patient with the assumption that mutation in the peripherin/RDS gene could contribute to the disease phenotype. "
02/03/1997 - "Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens."
03/01/1993 - "A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens."
11/01/1993 - "Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens. "

03/01/1954 - "[A case of retinitis punctata albescens considerably improved by placental therapy]."

09/01/2014 - "Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus."
03/01/2014 - "To assess macular photoreceptor abnormalities in eyes with fundus albipunctatus with RDH5 mutation by using adaptive optics scanning laser ophthalmoscopy (AO-SLO). "
03/01/2014 - "Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy."
09/01/2002 - "Quantitative measurement of the aqueous flare intensity by a laser flare-cell meter might indicate abnormalities in the blood-aqueous barrier in patients with retinitis punctata albescens."
09/01/2002 - "A laser flare-cell meter was used to examine blood-aqueous barrier function in a 21-year-old male patient who had typical retinitis punctata albescens with white dots scattered throughout large areas of the fundus in both eyes. "

01/01/2011 - "B-scan layer-by-layer analysis and unique SD-OCT reflectivity patterns of the following retinal white lesions are reviewed in the order of their retinal layer localization: myelinated nerve fiber layer, cotton wool spot, exudates, edema residues, drusen, fundus albipunctatus, Stargardt disease, Bietti crystalline dystrophy, punctate inner choroidopathy (PIC), presumed ocular histoplasmosis syndrome (POHS), post-photocoagulation chorioretinal scarring, and osseous choristoma. "

05/01/1975 - "The clinical picture resembling fundus albipunctatus was seen to develop in rabbits following subcutaneous injection with dibutyl oxalate. "

07/01/1995 - "The ERG was recorded using the blue LED (450 nm) built-in electrode under a yellow background illumination from a slide projector in five normal subjects, a patient with blue cone monochromatism, and a patient with fundus albipunctatus. "