Indices of Visual Improvement after Conservative Treatment for Branch Retinal Vein Occlusion with Macular Edema.

Purpose: To identify indices of visual improvement after conservative treatment for branch retinal vein occlusion (BRVO) with macular edema. Methods: We retrospectively reviewed the charts of 33 eyes of 33 patients with BRVO with macular edema. Inclusion criteria were 1) onset within 4 months, 2) decimal visual acuity of 0.05 to 0.5, and 3) minimum central subfield thickness (CST) of 250 µm. After 3 months of treatment with oral aspirin and kallidinogenase, the patients were divided into two groups: those with logarithmic minimum angle of resolution (logMAR) visual improvement of 0.3 or more (14 eyes) and less than 0.3 (19 eyes). We then compared systemic and ocular findings in the groups. Results: The groups differed significantly in logMAR improvement after 1 month (p<0.01) and in CST change after 1 month (p<0.05). Multiple logistic regression analysis showed that CST change after 1 month was a significant index of visual improvement (p<0.05). The cutoff value for visual improvement was -30 µm (sensitivity: 78.6, specificity: 68.4, positive predictive value: 64.7, negative predictive value: 81.3). Conclusion: A decrease in CST of more than 30 µm 1 month after conservative treatment indicates that visual acuity is likely to be improved after 3 months.

Macular degeneration in a Japanese patient with aceruloplasminemia.

PURPOSE: To characterize the clinical features of a Japanese patient with macular degeneration in aceruloplasminemia. METHODS: The clinical features were evaluated by visual acuity measurements, fluorescein angiography, electroretinography, and kinetic visual field testing. RESULTS: We observed a Japanese patient with macular degeneration in aceruloplasminemia. This patient also had diabetes mellitus and neurodegeneration. Ocular examination showed macular degeneration, which included yellow deposits around the macula area and no foveal reflex. CONCLUSION: It has been reported that Japanese patients with aceruloplasminemia have atrophy of the retinal pigment epithelium in the midperipheral area and yellowish discoloration of the fundus. However, the retinal findings and results of fluorescein angiography in our case were very similar to those for a white patient. We suggest that retinal degenerations in Japanese patients with aceruloplasminemia have clinical variability. We believe that impairment of iron metabolism caused by iron overload in the retina led to retinal degeneration in this case.

Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa.

PURPOSE: To determine whether mutations in the MERTK gene are present in Japanese patients with autosomal recessive retinitis pigmentosa (arRP). METHODS: The coding sequence of all 19 exons and the adjacent flanking intron sequences of the MERTK gene were directly sequenced in 96 unrelated Japanese patients with arRP. RESULTS: Seventeen sequence variants were found; six missense changes, three isocoding changes, and eight intron changes were also observed. One arRP patient had a novel homozygous Leu12Pro missense mutation in the MERTK gene. CONCLUSIONS: Mutations in the MERTK gene are relatively rare in Japanese patients with arRP.

Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.

PURPOSE: To determine the presence and frequency of mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa (ADRP), and to characterize the clinical characteristics of patients with the Lys238Arg mutation in the IMPDH1 gene. DESIGN: Case reports and results of DNA analysis. METHODS: All 14 coding exons of the IMPDH1 gene were directly sequenced in 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, and kinetic visual field tests. RESULTS: Two novel mutations, a Leu227Pro and Lys238Arg, in the IMPDH1 gene were identified in two unrelated families with ADRP. The clinical features associated with the Lys238Arg mutation were an early-onset and severe retinal degeneration. CONCLUSIONS: The most commonly reported Asp226Asn mutation was not found in the Japanese population, instead two novel mutations were found. These findings suggest that mutations of the IMPDH1 gene cause ADRP in the Japanese population.

Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.

PURPOSE: To describe the clinical and genetic characteristics of six Japanese families with Bietti's crystalline corneoretinal dystrophy (BCD). DESIGN: Case reports and results of DNA analysis. METHODS: Mutation screening was performed on six unrelated patients with BCD by direct sequencing. The clinical features were characterized by the visual acuity, slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing. RESULTS: An identical IVS6 to 8delTCATACAGGTCATCGCG/insGC mutation in the CYP4V2 gene was identified in five of the patients with BCD; the sixth patient had a novel Trp340X mutation in the CYP4V2 gene. Three patients showed crystalline-like deposits at the limbus by specular microscopy. Ophthalmic findings of all patients had a rapid progression after age 50 years. CONCLUSIONS: Our findings suggest that the IVS6 to 8delTCATACAGGTCATCGCG/insGC mutation is a common mutation in Japanese patients with BCD. Although phenotypic variability was found, the natural course was almost the same in all of our patients.