Quality of Life and Economic Impacts of Retinitis Pigmentosa on Japanese Patients: A Non-interventional Cross-sectional Study.

INTRODUCTION: Retinitis pigmentosa (RP) is an inherited progressive disease, characterized by a loss of photoreceptors, and is the second leading cause of visual impairment in Japan. RP is currently incurable and can result in complete blindness, with affected patients typically experiencing a gradual loss of light sensitivity, visual field, and visual acuity. Identification of any unmet medical needs of patients with this condition requires an understanding of the impacts of RP; in this study, we surveyed Japanese patients with RP to investigate the quality of life and economic impacts of visual impairment. METHODS: This non-interventional, cross-sectional study surveyed Japanese patients with RP. Economic impact was measured using an original questionnaire that assessed out-of-pocket cost (e.g., vision aids and medical services), salary gap with the general public, and the cost of depression and anxiety. Worker productivity was assessed using the Work Productivity and Activity Impairment Questionnaire (WPAI). Quality of life was evaluated using the Health Utilities Index Mark 3 (HUI3), the National Eye Institute Visual Function Questionnaire-25 (VFQ-25), and the 5-level EQ-5D version (EQ-5D-5L). The primary outcome was direct and indirect costs of visual impairment or blindness during the lifetime of patients with RP. RESULTS: Among 122 surveyed patients with RP, the estimated annual cost per patient was 218,520 yen (2176 USD), and the estimated lifetime cost per patient was 18,523,909 yen (184,501 USD). Additional robustness testing increased the estimated annual cost and lifetime cost per patient to 783,176 yen (7801 USD) and 66,389,827 yen (661,253 USD), respectively. In working patients, work productivity loss was 26.2% per person and impairment of daily activities was 31.6% per person. The mean VFQ-25, HUI3, and EQ-5D-5L scores were 42.0, 0.393, and 0.833, respectively. CONCLUSION: RP imposed a heavy economic burden and negative quality of life impacts in Japanese patients.

Quantitative assessment of visual pathway function in blind retinitis pigmentosa patients.

OBJECTIVE: The current methods used to assess visual function in blind retinitis pigmentosa (RP) patients are mostly subjective. We aimed to identify effective, objective methods. METHODS: We enrolled patients diagnosed with blindness associated with RP; we finally selected 26 patients (51 eyes) with a visual field radius less than 10 degrees and divided them into the following 4 groups by best-corrected visual acuity (BCVA): group 1, no light perception (NLP, 4 eyes); group 2, light perception (LP, 12 eyes); group 3, hand movement or finger counting (faint form perception, FFP, 22 eyes); and group 4, BCVA from 0.1 to 0.8 (form perception, FP, 13 eyes). All patients underwent optometry, optical coherence tomography (OCT), color fundus photography, fundus autofluorescence (FAF), full field electroretinography (ffERG), pattern electroretinography (PERG), multifocal electroretinography (mf-ERG), pattern visual evoked potential (PVEP), flash visual evoked potential (FVEP), and pupillary light response (PLR) assessments. Five patients in groups 1, 2, and 3 (1, 2, and 2 subjects, respectively) underwent functional magnetic resonance imaging (fMRI) scans and were compared with five healthy subjects. RESULTS: The outer plexiform layer was thinner in group 1, and the outer nuclear layer was thinner in groups 1 and 2. The ffERG, PERG, and mf-ERG findings were unrecordable in all four groups. The P2 amplitude of the FVEP was significantly lower in groups 1 and 2, while the P100 amplitude of the PVEP was higher in groups 2, 3 and 4 than in group 1. After white- and blue-light stimuli, the PLR thresholds in the patients without form perception were significantly higher. The threshold of the PLR stimulated by blue and white light was negatively correlated with the amplitudes of P2 and P100. Moreover, the fMRI findings showed that some RP patients have significant visual cortex activation in response to certain types of stimulation. However, statistical analysis was not performed because of the small number of cases. CONCLUSIONS: OCT, VEP, PLR and fMRI assessments can evaluate residual visual pathway function in blind RP patients. SIGNIFICANCE: Our study may have clinical significance for the potential prediction of RP patient prognoses and the effects after clinical trials.

A new measure for the assessment of visual awareness in individuals with tunnel vision.

BACKGROUND: Individuals with a restricted peripheral visual field or tunnel vision (TV) have problems moving about and avoiding obstacles. Some individuals adapt better than others and some use assistive optical aids, so measurement of the visual field is not sufficient to describe their performance. In the present study, we developed a new clinical test called the 'Assessment of Visual Awareness (AVA)', which can be used to measure detection of peripheral targets. METHODS: The participants were 20 patients with TV due to retinitis pigmentosa (PTV) and 50 normally sighted participants with simulated tunnel vision (STV) using goggles. In the AVA test, detection times were measured, when subjects searched for 24 individually presented, one degree targets, randomly positioned in a 60 degrees noise background. Head and eye movements were allowed and the presentation time was unlimited. The test validity was investigated by correlating the detection times with the 'percentage of preferred walking speed' (PPWS) and the 'number of collisions' on an indoor mobility course. RESULTS: In PTV and STV, the detection times had significant negative correlation with the field of view. The detection times had significant positive relations with target location. In the STV, the detection time was significantly negatively correlated with the PPWS and significantly positively correlated with the collisions score on the indoor mobility course. In the PTV, the relationship was not statistically significant. No significant difference in performance of STV was found when repeating the test one to two weeks later. CONCLUSION: The proposed AVA test was sensitive to the field of view and target location. The test is unique in design, quick, simple to deliver and both repeatable and valid. It could be a valuable tool to test different rehabilitation strategies in patients with TV.

[Retinal and Cortical Activation by Electrical Stimulation with Retina Implants]. / Retinale und kortikale Aktivierung durch elektrische Stimulation mit Netzhautimplantaten.

In Germany, about 30,000 to 40,000 people suffer from retinitis pigmentosa (RP), which ultimately results in blindness. The only aid to blind RP patients are retinal implants: These have been under development for several years and have now been approved as a medical product. Retinal implants produce visual perceptions in response to electrical stimulation of the degenerated retina and are useful in the everyday life of blind people. However, the currently achievable quality of vision is such that people with a retinal implant are still legally blind. The visual quality that can be achieved with epi- and subretinal implants depends not only on patient-specific factors such as individual history and status of retinal degeneration, but especially on the interface between implant and retina and the quality of the achievable neuronal activation. Biophysical approaches to functional improvements of the implants are founded on the physiology of the retina (cell density, intraretinal interconnections), are based on technical optimisation of the interface (electrode materials, size and density), and exploit the stimulation protocols with which visual information is fed into the degenerated retina (time courses of electrical stimuli, spatiotemporal stimulation pattern). Optimisation of stimulation parameters can be supported by a detailed analysis of cortical responses, with appropriate electrophysiological and optical methods. This article looks at both the physiological and biophysical fundamentals of electrical retinal stimulation, as well as the resulting retinal and cortical activation.

Increased risk of acute angle closure in retinitis pigmentosa: a population-based case-control study.

PURPOSE: To investigate the association between retinitis pigmentosa (RP) and acute angle closure during a 15-year follow-up period. METHODS: Using the Taiwan Longitudinal Health Insurance Database 2000, we identified 382 RP patients based on the diagnostic code of RP (International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) 362.74) made during 1996-2010, excluding subjects under age of 20 years at diagnosis or subjects undergoing lens extraction before the index date. The control group included 3820 randomly selected non-RP subjects matched with the RP patients in age, gender and the index date of diagnosis. The incidence of acute angle closure during the study period was observed based on an ICD-9-CM code of 365.22. Cochran-Mantel-Haenszel test was used to determine the odds ratio (OR) of having acute angle closure in RP patients. RESULTS: The mean age at the diagnosis of RP was 51.1 years (standard deviation [SD] 16.7). Acute angle closure occurred in 5 RP patients (1.3%) and in 15 controls (0.4%). The mean age with the acute angle closure was 53.3 years (SD 8.0) in RP patients and 64.6 years (SD 8.4) in controls (P = 0.015). After adjusting for age, gender and comorbid disorders, RP patients had 3.64-fold (95% confidence interval [CI], 1.29-10.25, P<0.001) greater odds of having acute angle closure. After stratification for gender and age, the risk of acute angle closure in RP was higher in patients under age of 60 years (adjusted OR 11.84; 95% CI, 2.84-49.48) and male patients (adjusted OR 19.36; 95% CI, 3.43-109.40) (both P = 0.001). CONCLUSIONS: RP patients had increased risk of acute angle closure than controls. Contrary to the fact that angle closure disease is more prevalent in elderly females in general population, acute angle closure attack occurred earlier in life and the risk was higher in males among RP patients.

Visual field assessment and the Austroads driving standard.

PURPOSE: To compare the conventional (Humphrey 24-2) automated visual field testing with the Goldmann standard visual field test for driving, and to predict how many patients with glaucoma may not meet the Australian driving standard with respect to visual fields. METHODS: Four patients (retinitis pigmentosa, glaucoma or vigabatrin treatment) with marked visual field defects as determined by uniocular static computerized perimetry (conventional testing) were re-evaluated with binocular kinetic Goldmann IV4e target field test (Australian driving standard). A series of 48 consecutive patients seen by the Glaucoma Inheritance Study in Tasmania were assessed with both static computerized perimetry and the Goldmann IV4e target test. RESULTS: The four patients with severe visual field defects (on computerized perimetry) were found to meet the driving standard on the binocular Goldmann IV4e target test. On computerized perimetry, 15 of 48 patients from the Glaucoma Inheritance Study in Tasmania were found to have visual field defects of sufficient severity that they may not meet the driving standard. However, only five of these patients failed the driving standard for visual fields, two of whom were still driving. CONCLUSIONS: Patients with severe field defects on conventional uniocular automated perimetry may still meet the Goldmann standard visual field test for driving. Approximately 30% of glaucoma patients would have visual field loss shown on Humphrey 24-2 test of a severity that requires further testing to determine if they meet the driving standard. Ten per cent of glaucoma patients tested did not meet the driving standard for visual fields.

Slitlamp assessment of age of onset and incidence of cataracts in pink-eyed, tan-hooded retinal dystrophic rats.

Posterior subcapsular cataracts (PSC) are associated with hereditary retinal dystrophy in the Royal College of Surgeons (RCS) rat model and with human retinitis pigmentosa. The relationship of lens and retinal pathology has never been explained. Previous studies of pink-eyed RCS rats aged 2.5 to 11 months had shown an incidence of cataract of 24% when observed by the unaided eye and 60% by direct ophthalmoscopy, while 40% of rats were considered to have clear lenses. Unlike the retinal degeneration, which appeared in all homozygous animals, cataract seemed not to be predictably associated with the rdy mutation. To test this further, we studied the lenses of rats of different ages with a diagnostic slitlamp. We confirmed that by 8 to 15 months of age, rats fed a diet containing recommended concentrations of all known nutrients for rodents developed cataracts with an incidence of 23% when observed by unaided eye. In addition, opacities were seen in 74% with the indirect ophthalmoscope and 20 D lens; but 100% had at least a "sugar grain" type PSC by slitlamp. The slitlamp-detectable cataract was first seen in some animals by 49 days, and by 56 days all rats examined had bilateral PSC. This is an age at which the rod photoreceptors have degenerated. We concluded that slitlamp-detectable PSC are predictably associated with the retinal dystrophy of the rdy mutation. The RCS rat model may be relevant to a type of retinal degeneration having a constant association of cataract.

Blindness in New South Wales. An estimate of the prevalence and some of the contributing causes.

The information available on the prevalence of blindness in Australia is examined in an attempt to estimate the number of blind people in New South Wales. Records of the causes of blindness made by the authors at the Royal Blind Society's Low Vision Clinic are then examined to estimate their relative significance. There are at least seven thousand people blind, out of a total population of 5,145,900. Macula pathology contributes 37.2% and 81.5% of those affected are over 60 years old. Diabetes is responsible for approximately 10%. Genetically determined disease causes 25% between ages 16 and 60 years. If blindness is to be prevented, a more detailed analysis of causes will be needed. This could be obtained by examination and coding of the records for Disability (Blind) Pensions at the Department of Social Security. Blindness in Aboriginals is not discussed.

Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl syndrome.

There is a great degree of heterogeneity of ophthalmologic and endocrinologic manifestations among patients with the Bardet-Biedl syndrome. The similarity of the atypical forms of retinitis pigmentosa and cone-rod degeneration indicates that definitive functional and electrophysical retinal work-ups should be performed on young patients with this syndrome. Since many cases of delayed puberty occur, the diagnosis of hypogonadism should be deferred until age 15. Segregation analysis on a large study of Bardet-Biedl syndrome in Switzerland differs from that expected with simple autosomal recessive inheritance. Excess affected males and deficient consanguinity are also documented. The occurrence of other family members with incomplete forms of the syndrome is noted in many reports in the literature. The authors propose that consideration be given to the hypothesis that the Bardet-Biedl syndrome may be transmitted by polygenic inheritance, since this would be compatible with features of the syndrome mentioned above.