1/25. A case of human vitamin a deficiency caused by an inherited defect in retinol-binding protein without clinical symptoms except night blindness.Two German siblings were found to suffer from night blindness and mild retinal dystrophy but no other clinical symptoms of vitamin a deficiency. Even though they had no detectable plasma retinal-binding protein (RBP) and their plasma retinol was exceedingly low, they showed normal physiologic functions and growth. Their RBP gene was found to harbor two point mutations. Their post-prandial plasma levels of retinyl esters were normal, and it is likely that they derived their tissue retinol from retinyl esters.- - - - - - - - - - ranking = 1keywords = retinal dystrophy, dystrophy (Clic here for more details about this article) |
2/25. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.PURPOSE: To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether the disease is stationary or progressive and whether the cone dystrophy is a part of fundus albipunctatus or a separate disease. methods: Fourteen patients from 12 separate Japanese families with fundus albipunctatus were examined. Six of the patients from 6 families also had a cone dystrophy. Genomic dna was extracted from leukocytes of the peripheral blood, and exons 2, 3, 4, and 5 of the RDH5 gene were amplified by polymerase chain reaction and were directly sequenced. A complete ophthalmic examination was performed including best-corrected visual acuity, slit-lamp examination, indirect ophthalmoscopy, fundus photography, and electroretinography. RESULTS: In all the patients, either a homozygous mutation or compound heterozygous mutations in the RDH5 gene were identified. The identified mutations were nucleotide position (nt) 103 G to A (Gly35Ser), nt 319 G to C (Gly107Arg), nt 394 G to A (Val132Met), nt 719 G insertion (frame shift), nt 839 G to A (Arg280His), nt 841 T to C (Tyr281His), and nt 928 C to GAAG (Leu310 to GluVal). All these mutations except the Arg280His were new. The nt 928 C to GAAG mutation was detected in patients with and without cone dystrophy. Cone dystrophy was most frequently seen in patients over 40 years old. CONCLUSIONS: Fundus albipunctatus either with or without cone dystrophy is caused by mutations of the RDH5 gene. Cone dystrophy is frequently observed in elderly patients with fundus albipunctatus. The conclusion was reached that the mutations of the RDH5 gene caused a progressive cone dystrophy as well as night blindness.- - - - - - - - - - ranking = 0.29959663810389keywords = dystrophy (Clic here for more details about this article) |
3/25. rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.PURPOSE: To examine rhodopsin gene mutations in Japanese patients with retinitis pigmentosa. methods: We performed a mutational analysis of the rhodopsin gene in 42 patients from 40 families with retinitis pigmentosa. Genomic dna was amplified by polymerase chain reaction (PCR) and the PCR products were sequenced. Restriction enzyme analysis was performed in family members of 1 patient with a rhodopsin gene mutation (Gly106Arg) and in 100 normal individuals. RESULTS: Among the patients with retinitis pigmentosa, 3 patients in one family had a heterozygous Gly106Arg mutation of the rhodopsin gene. They had night blindness and sectorial retinal dystrophy (predominantly at the inferior fundus) in both eyes. None of the 100 individuals with normal fundi had the Gly106Arg mutation of the rhodopsin gene. CONCLUSION: The Gly106Arg mutation of the rhodopsin gene has been found in Japanese patients with sectorial retinitis pigmentosa.- - - - - - - - - - ranking = 1keywords = retinal dystrophy, dystrophy (Clic here for more details about this article) |
4/25. A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy.OBJECTIVE: To assess the clinical and genetic characteristics of a Japanese family with fundus albipunctatus with progressive cone dystrophy associated with a mutation in the RDH5 gene. DESIGN: Case report with clinical findings and results of fluorescein angiography, electroretinograms, kinetic visual field testing, dark adaptometry, and dna analysis. SETTING: University medical center. patients: We studied the ocular findings in 6 members of a Japanese family with fundus albipunctatus with cone dystrophy and a guanine-to-adenine transversion at the first nucleotide in codon 35 of the RDH5 gene. The mutation resulted in a substitution of serine for glycine in amino acid 35 (Gly35Ser) of the RDH5 gene. RESULTS: Characteristic features included poor night vision, white dots in the retina, cone dystrophy, and a mottled appearance of the retinal pigment epithelium. Electroretinograms showed greater impairment of the rod-mediated responses than the cone-mediated responses. After 3 hours of dark adaptation, the a and b waves and scotopic b waves recovered. CONCLUSIONS: Although the mutation of the RDH5 gene has been known as a causative gene of fundus albipunctatus, the Gly35Ser mutation in the RDH5 gene may be related to the pathogenesis of progressive retinal degeneration. This phenomenon may provide evidence of gene phenotype caused by a mutation in the RDH5 gene. CLINICAL RELEVANCE: The Gly35Ser mutation causes fundus albipunctatus with cone dystrophy. This finding provides evidence that some kinds of mutations in the RDH5 gene are related, in part at least, to the pathogenesis of progressive retinal degeneration.- - - - - - - - - - ranking = 0.19973109206926keywords = dystrophy (Clic here for more details about this article) |
5/25. Macular dystrophy in a 9-year-old boy with fundus albipunctatus.PURPOSE: To report a 9-year-old boy with fundus albipunctatus and macular dystrophy. DESIGN: Observational case report. methods: A complete ophthalmic examination was performed. The 11-cis retinol dehydrogenase gene (RDH5) was examined by direct genomic sequencing. RESULTS: The fundi of the 9-year-old boy showed numerous yellow-white punctata as well as foveal atrophic lesions in both eyes. His corrected visual acuity was RE: 0.5 and LE: 0.3. Scotopic full-field electroretinograms were not present after 20 minutes of dark-adaptation but were normal after 3 hours of dark-adaptation. Full-field cone and 30-Hz flicker electroretinograms were normal; however, focal macular cone electroretinograms were significantly reduced. A compound heterozygous mutation of Tyr281His and Leu310GluVal in RDH5 was detected. CONCLUSION: We suggest that the macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctatus.- - - - - - - - - - ranking = 0.14979831905195keywords = dystrophy (Clic here for more details about this article) |
6/25. Macular dystrophy in a Japanese family with fundus albipunctatus.PURPOSE: To report a Japanese family with fundus albipunctatus and macular dystrophy associated with a mutation in the 11-cis retinol dehydrogenase (RDH5) gene. DESIGN: Observational case report. METHOD: Ophthalmic examinations and dna analysis were performed. RESULTS: The fundi of a 56-year-old man and his 51-year-old sister showed numerous yellow-white punctata. He also had bull's-eye maculopathy and prepappillary arterial loops, whereas she did not, and his best-corrected visual acuity was impaired, whereas hers was normal. Their kinetic visual fields did, however, show central or paracentral scotoma, and both had tritanomalous color vision. Their scotopic electroretinograms were typical of fundus albipunctatus, and photopic electroretinograms were significantly reduced. A homozygous Gly107Arg mutation in the RDH5 gene was detected in both siblings. CONCLUSIONS: We suggest that the macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus.- - - - - - - - - - ranking = 0.14979831905195keywords = dystrophy (Clic here for more details about this article) |
7/25. Birdshot retinochoroidopathy in monozygotic twins.Birdshot retinochoroidopathy is a rare ocular disorder which was named and delineated as a separate clinical entity by Ryan & Maumenee in 1980. We diagnosed birdshot retinochoroidopathy in a monozygotic pair of twins, who were affected with a time interval of 12 years, respectively. These are the first with birdshot retinochoroidopathy to be reported from the Nordic countries and the first report on this disorder in monozygotic twins. Due to night-blindness, visual field defects and a severely affected electroretinogram one of our cases initially was diagnosed as a choroidoretinal dystrophy. Birdshot retinochoroidopathy should be kept in mind as a differential diagnosis in retinitis pigmentosa-like disorders with widespread choroidal involvement. Our cases substantiated the evidence of a strong correlation with the presence of HLA-A29 antigen.- - - - - - - - - - ranking = 1keywords = retinal dystrophy, dystrophy (Clic here for more details about this article) |
8/25. Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.BACKGROUND: The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, seizures and visual loss secondary to retinal dystrophy. The juvenile type is of special interest to the ophthalmologist as visual loss is the earliest symptom of the disorder. history AND SIGNS: We present two siblings with severe retinal dystrophy due to juvenile Batten disease. Sibling A (age 10) presented with visual loss, photophobia and night blindness, starting at age 4. His vision was perception of light by the age of 10.5 years. Fundus examination revealed severe pigmentary retinopathy. Sibling B (age 7) presented with night vision difficulties. Fundus examination revealed a bull's eye maculopathy with minimal peripheral atrophic changes. In vivo autofluorescence level was found to be very low. electroretinography (ERG) showed generalized retinal dysfunction involving both cone and rod systems, with an electronegative maximal response. In both siblings vacuolated lymphocytes were found on a peripheral blood film and on molecular genetic testing both were homozygous for the commonly reported 1.02-kb deletion of the CLN3 gene. THERAPY AND OUTCOME: Although there is no effective treatment, the early diagnosis allowed accurate genetic and social counseling. CONCLUSIONS: Juvenile Batten disease should be considered in children with a retinal dystrophy, especially where there is a bull's eye maculopathy and an abnormal full field ERG. The novel finding of very low in vivo autofluorescence is consistent with histopathological studies and may be secondary to photoreceptor cell loss.- - - - - - - - - - ranking = 3keywords = retinal dystrophy, dystrophy (Clic here for more details about this article) |
9/25. Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.OBJECTIVE: To describe young monozygotic twin sisters with fundus albipunctatus (a type of autosomal recessive stationary night blindness caused by mutations of the 11-cis retinol dehydrogenase gene [RDH5]) associated with cone dystrophy, previously reported in elderly men. methods: Ophthalmologic examinations were performed, and the RDH5 gene was analyzed by direct genomic sequencing. RESULTS: Twin 23-year-old sisters with high myopic refractive errors of approximately -13 diopters were diagnosed as having fundus albipunctatus. Their photopic electroretinographic responses were markedly reduced, and cone dystrophy was diagnosed. One twin had macular degeneration with reduced best-corrected visual acuity, while the other twin had normal maculae with good visual acuity. A compound heterozygous mutation, Val132Met and Arg280His, in the RDH5 gene was found in both sisters. CONCLUSIONS: Cone dystrophy can be present in patients with fundus albipunctatus, not only elderly men but also young women. The clinical severity differed between monozygotic twins with fundus albipunctatus and cone dystrophy.Clinical Relevance The patient's sex is not critical for the presence of cone dystrophy in patients with fundus albipunctatus. The discordant findings in the twins indicate that factors other than genetics influenced the phenotype.- - - - - - - - - - ranking = 0.22469747857792keywords = dystrophy (Clic here for more details about this article) |
10/25. Optical coherence tomography in a case of Bietti's crystalline dystrophy.PURPOSE: To demonstrate the cross-sectional morphology in crystalline retinopathy. methods: A 24-year-old woman with Bietti's crystalline dystrophy (BCD) and bilaterally decreased vision and nyctalopia was examined by optical coherence tomography (OCT). RESULTS: Fundus examination demonstrated numerous reflective, yellow-white crystalline deposits scattered throughout the posterior pole and midperipheral retina. Optical coherence tomography disclosed an abnormally level of high reflectivity in red to orange colours throughout the entire neuroretina, retinal pigment epithelium (RPE) and choroid. The RPE-choriocapillaris complex was thickened and hyper-reflective, corresponding with dense crystalline deposits. CONCLUSION: The observed uncommon hyper-reflectivity in BCD relates to the deposition of numerous infiltrates. In vivo investigations by OCT confirmed histological studies that a crystalline retinopathy corresponds with numerous infiltrates in the retina, RPE and choroid. The RPE and choroid have intensive hyper-reflection and may be the primary location of the disease.- - - - - - - - - - ranking = 0.12483193254329keywords = dystrophy (Clic here for more details about this article) |
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