1/25. 1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease.We examined the sequence of the arrestin gene in two unrelated patients with Oguchi disease. A 35-year-old woman and a 72-year-old man underwent a complete ophthalmological examination, including evaluation of visual acuity and color vision, fundus examination, and electroretinography. A golden-yellow discoloration was observed in their fundi. After 30 minutes of dark adaptation, the discoloration in the fundus disappeared. A deletion of an adenine in codon 309 of exon 11 of the arrestin gene was identified in both patients. Mutations in the arrestin are common in Japanese patients with Oguchi disease.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
2/25. Clinical and immunocytochemical findings in a case of melanoma-associated retinopathy.OBJECTIVE: To describe an unusual case of melanoma-associated retinopathy (MAR). DESIGN: Retrospective, observational case report and experimental study. PARTICIPANTS: A 61-year-old man with a history of cutaneous melanoma, acquired bilateral central scotomas, and night blindness. INTERVENTION: Serial full-field electroretinography (ERG) and Goldmann perimetry were performed. serum was screened for cancer-associated retinopathy (CAR) antibodies by Western blotting. Sections of human and rat retina were examined by immunofluorescence microscopy to determine whether retinal cells were reactive with this patient's serum. A metastatic workup was performed. MAIN OUTCOME MEASURES: electroretinography, Goldmann visual field testing, and immunocytochemistry were performed. RESULTS: The results were as follows: (1) The ERG showed a profound loss of the b-wave amplitude and a "negative" b-wave characteristic of congenital stationary night blindness; (2) a central scotoma and peripheral constriction were identified on Goldmann visual field tests; (3) as in other patients with MAR, bipolar cells in human and rat retinas were immunolabeled with this patient's serum; and (4) a previously unsuspected focus of metastatic melanoma was discovered. CONCLUSIONS: Recognition of this condition may help to identify an occult focus of metastatic melanoma.- - - - - - - - - - ranking = 2keywords = dent (Clic here for more details about this article) |
3/25. fluorescein angiography and vitamin A and oxalate levels in fundus albipunctatus.Two patients had fundus albipunctatus, one of the variants of congenital stationary night blindness. Neither the white dots in the retinas of these patients nor the retarded course of dark adaptation characteristically associated with the disease could be attributed to vitamin a deficiency or raised oxalate levels since both substances were present in normal amounts. Fluorescin angiography showed multiple discrete lesions in the pigment epithelium not coincident with the ophthalmoscopically visible changes. Since the pigment epithelium is the storage site for bleached visual pigment, these findings suggest abnormalities that underlie the major functional deficit in this disease, that is, the slow recovery of retinal sensitivity.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
4/25. 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 = 2keywords = dent (Clic here for more details about this article) |
5/25. Clinicopathological report of retinitis pigmentosa with vitamin e deficiency caused by mutation of the alpha-tocopherol transfer protein gene.PURPOSE: To discuss the clinicopathological findings in a patient with retinitis pigmentosa (RP) accompanied by a vitamin e deficiency caused by an H101Q mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene. CASE: The clinical course of this patient was followed by conventional ophthalmological examinations over a 3-year period. After the patient died from pancreatic cancer, the eyes were obtained, and examined by light and electron microscopy. OBSERVATIONS: The patient complained of night blindness subsequent to adult-onset ataxia, although the ataxia was very mild. His visual acuity was 0.6 OU, and ophthalmoscopy revealed RP sine pigmento. Ring scotomas were detected, and the electroretinography, electro-oculography, and dark-adaptation were altered. fluorescein angiography showed granular hyperfluorescence around the macula. No progression of the visual and neurological symptoms was observed during the 10 years he was taking oral vitamin E. Histopathological examination revealed the loss of the outer and inner segments of the photoreceptors in the area corresponding to the ring scotoma, as well as a disorganization and shortening of the outer segments in the peripheral retina. CONCLUSIONS: We conclude that the clinical and pathological findings in the eyes of this patient having RP with vitamin e deficiency caused by an H101Q mutation are similar to those of common autosomal recessive RP. However, special attention is required in making a diagnosis of RP with vitamin e deficiency because RP with vitamin e deficiency is medically treatable. The mild Friedreich-type ataxia accompanying the RP may be helpful in identifying this disease.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
6/25. Benign adult familial myoclonic epilepsy (BAFME) with night blindness.This is the first report of benign adult familial myoclonic epilepsy (BAFME) with night blindness. Our cases of BAFME (mother, son, and daughter) demonstrated night blindness with a reduced b-wave response on electroretinography (ERG) suggesting an alteration in calcium-mediated neurotransmitter release from photoreceptors in response to light. Several familial epilepsies have been shown to be due to a channelopathy. On the other hand, the mutation of a calcium-channel gene in Xp11.23 was recently reported in incomplete X-linked congenital stationary night blindness (CSNB). Although the gene locus of BAFME was recently assigned to 8q23.3-q24.1, the causative gene has yet to be identified. The present familial case suggests that BAFME may also be a disease of the calcium channel that is present in the retina and the central nervous system (CNS).- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
7/25. autoantibodies to transducin in a patient with melanoma-associated retinopathy.PURPOSE: To report novel immunoreactivity in a patient with melanoma-associated retinopathy. DESIGN: Retrospective case report and experimental study. methods: A 32-year-old woman with a history of metastatic melanoma presented with bilateral decreased visual acuity. electroretinography, Goldmann perimetry, immunohistochemistry, and Western blotting of her serum were performed. RESULTS: electroretinography showed a "negative" B-wave. Paracentral and central scotomas were observed on Goldmann perimetry. Antibodies to a retinal transducin were demonstrated by Western blotting. No immunoreactivity to retinal bipolar cells was detected by immunohistochemistry. CONCLUSION: melanoma-associated retinopathy can be related to a variety of antiretinal antibodies. Recognition of transducin, a novel melanoma-associated retinopathy antigen, may be important for identifying and treating patients with night blindness and melanoma.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
8/25. lymphoma-associated retinopathy.OBJECTIVE: To describe the clinical, electrophysiologic, and serologic findings in a patient with retinal degeneration associated with Hodgkin's lymphoma. DESIGN: Case report with ancillary immunohistochemical studies. methods: A 24-year-old woman experienced night blindness and fundus abnormalities 1 week after initiation of chemotherapy for Hodgkin's lymphoma. visual fields and full-field electroretinograms (ERGs) were monitored over a 10-year period. serum antibodies were studied on Western blot reactions on a solubilized extract of bovine retina. serum antibodies were also evaluated through indirect immunohistochemistry on rhesus monkey retina. RESULTS: Visual field and ERG amplitudes, initially abnormal, became reduced further over 10 years. serum antibodies were identified that reacted to a retinal protein or proteins approximating 65 kd; these antibodies showed immunologic activity against photoreceptors. CONCLUSIONS: A progressive paraneoplastic retinopathy can occur in association with Hodgkin's lymphoma. The pathogenesis of the retinal degeneration appears to be related to a serum antibody that is reacting to a retinal protein or proteins of approximately 65 kd.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
9/25. A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.PURPOSE: To describe a French family with the incomplete type of X-linked congenital stationary night blindness (CSNB2) associated with a novel mutation in the retina-specific calcium channel alpha(1) subunit gene (CACNA1F). DESIGN: Interventional case report. methods: Two family members with a history of nonprogressive night blindness and subnormal visual acuity were clinically examined and the genotype determined by molecular genetic analysis. RESULT: Both patients had clinical manifestations characteristic of CSNB2. Electrophysiologically, we found a predominant reduction of the ERG B-wave in the maximal response. Both rod and cone function were subnormal, with the latter tending to be more attenuated. We identified a C deletion at nucleotide position 4548, resulting in a frameshift with a predicted premature termination at codon 1524. CONCLUSIONS: The clinical and genetic study of a novel mutation in the CACNA1F gene adds further support to the contention that CSNB2 represents a genetically distinct retinal disorder of a calcium channel.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
10/25. ERG rod a-wave in Oguchi disease.We analyzed the change in the ERG rod a-wave waveform during the course of dark adaptation in two patients with Oguchi disease. Two Japanese patients showed a homozygous arrestin 1147delA mutation. Scotopic flash ERGs were recorded after different periods of dark adaptation. ERG rod a-waves were obtained after subtraction of the cone ERG contribution. The rod a-waves were fitted with a model of the rod receptor signal. The parameters, Rm(p3) (maximum a-wave amplitude) and S (sensitivity) were calculated. Longer periods in the dark produced larger rod a-wave but only to the first flash presented. The amplitude of the response to subsequent flashes was essentially independent of the period of dark adaptation. Rm(p3) increased with advance of dark adaptation. However, S was nearly constant. Our results suggest that the cause of delayed dark adaptation is not to be sought in the activation of phototransduction process or the regeneration of rhodopsin per se but rather in the deactivation process of the phototransduction cascade.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
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