ABSTRACT
PURPOSE: To identify mutations in the RDH5 gene in a family with a mother having fundus albipunctatus (FA) and 3 children with retinitis pigmentosa (RP). METHODS: Ophthalmological examinations were performed to diagnose FA and RP. Mutational analysis of RDH5 was performed. RESULTS/CONCLUSIONS: The mother was diagnosed with FA, and 3 children were diagnosed with RP. The proband's mother, brother, and sister had a novel mutation c.689_690CT > GG in RDH5. The proband and mother had a previously reported mutation c.928delCinsGAAG. Consequently, the mother's FA was caused by compound heterozygous mutations. Further studies will be needed to determine the gene responsible for children's RP.
Subject(s)
Alcohol Oxidoreductases/genetics , Genes, Recessive , Night Blindness/genetics , Retinitis Pigmentosa/genetics , Child , Female , Fundus Oculi , Heterozygote , Humans , Mutation, Missense , Night Blindness/pathology , Pedigree , Retina/pathologyABSTRACT
Microdialysis with high performance liquid chromatography and electrochemical detection (HPLC-ECD) was used to measure ascorbic acid (AA) concentrations in rabbit vitreous before and after vitrectomy. A cellulose microdialysis probe was implanted in the vitreous humor, and after stabilization, AA measurements were made daily over a 10 day period. The effect of removing two-thirds of the vitreous by vitrectomy was examined. The effect of triamcinolone acetonide (TA) was evaluated in four groups of rabbits: Group 1, sub-tenon TA (20 mg) alone; Group 2, intravitreous TA (4 mg) alone; Group 3, sub-tenon TA (20 mg) after vitrectomy, and Group 4, intravitreous TA (4 mg) after vitrectomy. The results showed that the AA concentration after vitrectomy was significantly lower from days 2 to 10 with a maximum reduction of 49.5% (P < 0.005) on day 7. No significant changes in the AA level was observed in Groups 1 and 2, a mild recovery of AA concentration reduction after vitrectomy was detected in Group 3. The highest recovery of the AA concentration reduction was observed in Group 4. The attenuating effect of TA treatment on the reduction of AA in the vitreous after vitrectomy was significant. This attenuating effect of the TA may be due to prevention of the disruption of the blood-aqueous barrier by its anti-inflammatory action.
Subject(s)
Ascorbic Acid/metabolism , Vitrectomy , Vitreous Body/metabolism , Animals , Chromatography, High Pressure Liquid/methods , Female , Glucocorticoids/therapeutic use , Male , Microdialysis/methods , Oxidative Stress , Postoperative Care/methods , Postoperative Period , Rabbits , Triamcinolone Acetonide/therapeutic useABSTRACT
PURPOSE: A case of sectorial benign flecked retina not associated with an RDH5 gene mutation is reported. METHODS: A 51-year-old woman showed multiple yellow-white flecks in both eyes similar to those of benign flecked retina but in only the upper half of the retina. We carried out clinical, electrophysiological, and molecular genetic examinations of the patient. RESULTS: Visual acuity was 20/20 OD and 20/20 OS. Fluorescein angiography showed diffuse irregular hypofluorescence that did not correspond to the flecked lesions. A Goldmann-Weeker adaptometer test revealed that the visual threshold of the upper retina was approximately 0.6 to 0.8 log units higher than that of the lower retina. No mutations of the RDH5 gene were detected in exons 2-5 or in the flanking intron sequences. CONCLUSIONS: To our knowledge, this is the first report of sectorial benign flecked retina, and the flecks may not be caused by an RDH5 gene mutation.
