1/39. 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 = vision (Clic here for more details about this article) |
2/39. night blindness precipitated by isotretinoin in the setting of hypovitaminosis A.A 16-year-old male developed night blindness 2 weeks after starting isotretinoin at a dose of 20 mg per day for cystic acne. He also had cystic fibrosis, complicated by hepatic cirrhosis. Despite long-term oral vitamin a supplementation, serum vitamin a levels were found to be 0.3 mumol/L (normal range 0.9-2.5 mumol/L). Oral vitamin a replacement was instituted with resolution of his visual symptoms in 6 months. isotretinoin therapy was successfully continued with no deterioration in liver function. isotretinoin has been reported to cause deterioration in night vision. in vitro evidence suggests isotretinoin may interfere with the processing of endogenous vitamin a in the retina. This case highlights the need for careful monitoring of serum vitamin a status in patients with malabsorptive states on isotretinoin therapy.- - - - - - - - - - ranking = 1keywords = vision (Clic here for more details about this article) |
3/39. An electrophysiological follow-up study on acquired unilateral nyctalopia.PURPOSE: To describe the clinical picture and electrophysiological findings in acquired unilateral nyctalopia. methods: A patient who had acquired unilateral visual loss with normal fundus was followed for a period of 2.5 years with basic ophthalmological examinations including standard electroretinogram and photopic on and off responses. RESULTS: A 46-year-old woman suffered from acquired unilateral nyctalopia. She complained of photopsia and blurred vision in her left eye. The initial examination of the left eye showed 1 cells in the anterior chamber and a granular appearance in the fovea. After 1 month of treatment she still complained of photopsia in her left eye. ophthalmoscopy and fluorescein angiography revealed no abnormality in either eye. A bright flash electroretinogram (ERG) in the left eye was a negative shape. Photopic ERG elicited by a 150 ms stimulus showed a depressed b-wave and enhanced a- and d-waves in the left eye. CONCLUSIONS: This ERG waveform suggested that the transmission between photoreceptor and on-bipolar cell might be affected by idiopathic retinal disease.- - - - - - - - - - ranking = 1keywords = vision (Clic here for more details about this article) |
4/39. Diagnostic features of the Favre-Goldmann syndrome.Extensive retinal vascular disease was noted in three patients from two families with Favre-Goldmann syndrome. In addition to classical features they had pronounced leakage from some retinal vessels. Vessels were either opaque ('sclerotic') or non-perfused. Cystoid macular oedema was a contributing cause of decreased vision. Two of the three patients showed a discrepancy on electroretinography between single-flash photopic amplitudes and flicker fusion frequency. This may be characteristic of Favre-Goldmann syndrome.- - - - - - - - - - ranking = 1keywords = vision (Clic here for more details about this article) |
5/39. melanoma-associated retinopathy versus abnormal retinal function due to interferon-alpha/isotretinoin therapy in cutaneous malignant melanoma.PURPOSE: To analyze whether an abnormal retinal function in patients with a cutaneous malignant melanoma was due to paraneoplastic retinopathy or due to isotretinoin or interferon-alpha. methods: We studied 15 patients with malignant melanoma in stage IIa and IIb who are all participants in a randomized, multicentered, double-blind placebo-controlled clinical trial comparing interferon-alpha/isotretinoin versus interferon-alpha/placebo performed by the Department of dermatology, University of Graz. Our assessment included a full ophthalmic history and examination, electrophysiological testing (ERG, EOG), dark adaption, color vision and visual field testing. RESULTS: The most prevalent ocular symptom patients complained about was ocular dryness (8 patients). Electrophysiological as well as psychophysical testings showed no abnormalities in 12 patients. In 1 patient the therapy was stopped because of electrophysiological and psychophysiological pathology. This patient suffered from severe reduction of night vision and visual disturbances. Another patient had had night blindness since childhood which remained stable. CONCLUSIONS: We postulate that in 1 of 15 patients, visual complaints are caused with a high probability by melanoma-associated retinopathy although, in the literature, isotretinoin is described to show similar effects on retinal function.- - - - - - - - - - ranking = 2keywords = vision (Clic here for more details about this article) |
6/39. phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.We examined a Japanese family with X-linked retinitis pigmentosa (RP) associated with a nonsense mutation, R120X, in the RP2 gene. The 26-year-old proband presented at the age of seven years with a two-year history of night blindness. Visual disability worsened with increasing age. At age 24, visual acuity was 0.08 in both eyes. Testing for refractive error indicated mild myopia. visual fields showed bilateral-constriction to 10 degrees. He had central macular areolar sclerosis in both eyes. Two maternal uncles had vision of light perception to hand movement in their early forties together with dense bilateral cataracts. The ocular phenotype of this family with R120X was considered severe; reported phenotypes associated with this mutation have not been uniform.- - - - - - - - - - ranking = 1keywords = vision (Clic here for more details about this article) |
7/39. 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 = 1keywords = vision (Clic here for more details about this article) |
8/39. A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction.PURPOSE: To characterize a distinctive form of congenital stationary night blindness (CSNB). DESIGN: Observational case report. PARTICIPANTS: A 30-year-old male with a history of night blindness, several members of his family, a patient with "complete" congenital stationary night blindness (CSNB1), and groups of age-similar control subjects. methods: Rod-system function was evaluated by measuring psychophysical dark-adapted thresholds, by recording dark-adapted electroretinograms (ERGs), and by fundus reflectometry. Cone-system function was evaluated by recording light-adapted ERGs, including those to sawtooth flicker, and by recording light-adapted visually evoked potentials (VEPs) to luminance increments and decrements. MAIN OUTCOME MEASURES: Dark-adapted thresholds, ERGs, rhodopsin double densities, Goldmann visual fields, and VEPs. RESULTS: The patient's visual acuity, visual fields, and color vision were normal. His peripheral dark-adapted thresholds were rod-mediated but elevated by approximately 3 log units above normal. rhodopsin double density and bleaching recovery were normal. His dark-adapted maximal-flash ERG showed a "negative" waveform, in which the b-wave was more reduced in amplitude than the a-wave, although the a-wave amplitude was also reduced. The rod photoreceptors contributed to the patient's dark-adapted ERGs, as illustrated by the unequal responses to cone-matched stimuli. The patient's cone-mediated thresholds for long-wavelength stimuli were within the normal range. However, his light-adapted brief-flash b-wave was abnormal in amplitude and implicit time. Selective abnormalities of the ON responses of the cone system were apparent in the patient's reduced b-wave amplitude to rapid-on flicker with a normal response to rapid-off flicker, and his prolonged VEP latencies to increments but not to decrements. CONCLUSIONS: The overall pattern of findings distinguishes this patient from previously described forms of CSNB. The results suggest that two factors likely contribute to the patient's night blindness: (1) a rod phototransduction defect and (2) a postreceptoral defect. The results also indicate dysfunction within the cone ON pathway.- - - - - - - - - - ranking = 1keywords = vision (Clic here for more details about this article) |
9/39. 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 = 1keywords = vision (Clic here for more details about this article) |
10/39. 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 = 2keywords = vision (Clic here for more details about this article) |
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