We have screened for possible disease-causing mutations in the peripherin/retinal degeneration slow (RDS) gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ADRP). Using polymerase chain reaction-single strand conformation polymorphism analysis, a novel mutation at codon 214 was found in which the highly conserved cysteine was replaced with a serine in one family. The mutation at codon 214 was found in all three affected siblings of this family, but none of the 40 normal control individuals had this mutation. These results strongly suggest that the mutation is pathogenic for RP in this family. The clinical phenotype for this family is a late-onset form of ADRP.

The purpose of the study was to compare the two mucin secretogogues, diquafosol (DQS) and rebamipide (RBM), for the treatment of dry eye syndrome (DES) in office workers. Dry eye patients using computers for >4 h/day were randomly assigned treatment with either DQS or RBM. Main outcomes measures included changes in tear film break-up time (TBUT) and subjective symptoms assessed by the Dry Eye-Related Quality of Life Score (DEQS). The subjects had scheduled examinations at 0 and 4 weeks, and the examinations at 2 and 8 weeks were optional. Changes in keratoconjunctival fluorescein score and a patient satisfaction questionnaire were also recorded. Both groups showed significant improvements in the DEQS scores at 2, 4, and 8 weeks following the initiation of the study. Both groups showed significant increases in the TBUT at 2 and 4 weeks. No significant difference was found between the DQS and RBM groups at any time periods. Patients reported more comfort with the use of DQS compared with the use of RBM. No local or systemic side effects were noted. The results of the present study indicated that both DQS and RBM were effective for the treatment of DES in office workers.

Purpose: High-contrast figures such as Landolt rings are insufficient to evaluate the function of the foveal cones of retinitis pigmentosa (RP) patients. We investigated the correlation between visual function as determined with Landolt rings and with the Vistech Contrast Sensitivity Function Test (VCTS) at various spatial frequencies, in addition to the Cambridge Low Contrast Grating (CLCG). Methods: The study included 30 retinitis pigmentosa patients (53 eyes). All patients were assessed with Landolt rings, the Vistech method, and the CLCG. We estimated the relative contribution of contrast sensitivity to visual acuity by VCTS at each spatial frequency and by CLCG by simple linear regression analysis. Results: The results of the regression analysis of VCTS at 1.5, 3.0, and 6.0 cycles/degree showed a significant correlation between Landolt rings and VCTS and between CLCG and VCTS that was strongest at 6.0 cycles/degree. There was no significant correlation between Landolt rings and VCTS or between CLCG and VCTS at 12.0 and 18.0 cycles/degree. Patients with a visual acuity of 20/25 and CLCG greater than 100 were divided into two groups according to their contrast sensitivity at 18.0 cycles/degree on VCTS. Conclusions: The VCTS at the highest frequency was useful for evaluating the foveal visual function in RP patients having good visual acuity with the Landolt rings. Thus, contrast sensitivity should be useful in detecting minute impairment or improvement of visual function in RP.

The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad RP) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early onset of symptoms in childhood with a diffuse loss of rod and cone function and a relatively good preservation of cone function, corresponding to the type with relatively rapid progression to blindness (type I category of ad RP).

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.