Visual acuity and 10 degrees automated static perimetry in eyes with retinitis pigmentosa.

PURPOSE: In a previous study we demonstrated that the progression of the disease retinitis pigmentosa (RP) can be readily monitored by the mean deviation (MD) measured by Humphrey central 10-2 perimetry, which assesses the sensitivity distribution in the macular area in eyes affected by RP. In the present study, we investigated whether the 10 degrees perimetric results could predict the time of declining visual acuity in eyes with RP in a cross-sectional study. METHODS: Humphrey 10-2 perimetry results and visual acuity were studied in the right eyes of 69 patients with typical RP. Patients whose eyes had cataract, glaucoma, cystoid macular edema, or other complications affecting vision were excluded. RESULTS: Eyes with an MD of -15 dB or greater had almost normal visual acuity. Various degrees of visual acuity loss were observed in eyes with an MD of less than -15 dB. In the 35 eyes with an MD of less than -15 dB, visual acuity correlated well with the corrected pattern standard deviation (CPSD), which is the measure of the degree to which the shape of the measured field departs from the age-corrected normal reference field. CONCLUSION: In the absence of complications, many eyes with RP may experience acuity loss after the field constriction reaches an MD of less than -15 dB. The CPSD may be used as an indicator of acuity because eyes showing a lower CPSD tend to have greater loss of acuity among eyes with an equivalent MD value.

Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma.

The optineurin gene (OPTN) was identified as a gene that causes primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). To investigate the frequency of sequence changes in OPTN in Japanese glaucoma patients, single-strand conformation polymorphism analysis and subsequent sequence analysis were performed for genotyping OPTN in 165 unrelated Japanese patients with POAG and 148 patients with NTG, with 196 control subjects without glaucoma as reference subjects. Out of four mutations reported to be associated with risk and to cause disease in Caucasian patients, sequence alterations in 458G > A and 691_692insAG were not detected in any investigated Japanese patients with glaucoma, and alterations in 1944G > A and 603T > A, were present in similar frequencies in glaucoma patients and control subjects. The current results suggest that there may be certain racial differences between Japanese and Caucasians with respect to OPTN genotypes.

The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.

Glaucoma represents one of the most common eye diseases and is characterized by progressive loss of visual fields. In the more advanced stages bilateral blindness may result, due to optic nerve atrophy and an excavated optic nerve head. Open-angle glaucoma is one of the main disease subsets, which may be further divided into high tension primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). Recently, the optineurin ( OPTN) gene was identified as a causative factor for NTG. Alterations in this gene were found in Caucasian families with NTG. In particular, c.458G>A, c.691-692insAG and c.1944G>A were shown to be risk factors. Since NTG is reported to be the most common form of glaucoma in Japan, and to identify if the OPTN gene plays a role in POAG, the DNAs from 148 unrelated Japanese patients with NTG, 165 patients with POAG and 196 unrelated controls who were not suffering glaucoma were investigated by appropriate genotyping techniques. No glaucoma-specific mutations were found in the OPTN gene in Japanese glaucoma patients. However, some novel single-nucleotide polymorphisms (SNPs) in the exons and introns are reported in this paper for the first time.