Cyclic exotropia associated with retinitis pigmentosa

Purpose To report the occurrence of cyclic exotropia in a patient with retinitis pigmentosa. Methods A 31-year-old man presented with cyclic exotropia of the left eye of 4 years duration that alternated every 24 h. A detailed ophthalmologic examination was performed. Results The patient showed an orthotropia and a comitant left exotropia of 30 prism diopters at distance and 25 prism diopters at near in the primary position on an exotropic day with a cycle of 48 h. A fundoscopic examination showed bone spicule formation and arteriolar narrowing, and electroretinography showed no response in either eye. A Goldmann visual field examination showed a central island in both eyes. Conclusions Cyclic exotropia may occur in patients with retinitis pigmentosa, an association that to the best of our knowledge has not been previously reported in the English ophthalmic literature. Cyclic exotropia is an unusual association with retinitis pigmentosa.     

Retinitis pigmentosa in a man's right eye and corneal opacity, corneoiridal adhesion, and normal retina in the left eye

A 45-year-old-man, the product of a first-cousin relationship, complained of night blindness. His right eye has signs of early-stage retinitis pigmentosa. His left eye, which had suffered a corneal infection in childhood, had poor visual acuity, corneal opacity, corneoiridal adhesion, normal retina, and a normal electroretinographic response. The retinitis pigmentosa is likely an autosomal recessive trait, and the retinal lesion in the left eye may have been delayed by light deprivation produced by the corneal abnormalities.     

Membrana neovascular coroidea asociada a retinitis pigmentosa unilateral

A 67 year-old woman with diabetes mellitus type 2 no medical background of interest was attended in hospital due to visual loss of left eye of 4 months of onset. The fundus examination revealed findings corresponding to moderate non-proliferative diabetic retinopathy in the right eye and pigmented lesions similar to bone spicules and atrophy of the retinal pigment epithelium in the middle periphery and in the macular area in the left eye. The full-field electroretinogram was flat, with a slight insinuation of the b-wave in the light adaptation with a single flash of 3.0 cd in the left eye. The optical coherence tomography showed the atrophic retina in all its layers, as well as intraretinal cysts and a serous neurosensory detachment of the macular retina with a lesion of high reflectivity in the left eye. Infectious and inflammatory diseases were ruled out. Three doses of intravitreal ranibizumab were administered monthly.The presence of choroidal neovascular membrane associated with unilateral retinitis pigmentosa has not been previously reported. The patient improved with intravitreal ranibizumab.     

Full-field ERG, multifocal ERG and multifocal VEP in patients with retinitis pigmentosa and residual central visual fields

PURPOSE: To evaluate (with three different electrophysiological methods) the residual retinal function in a selected group of patients with retinitis pigmentosa and remaining small central visual fields. METHODS: Fourteen patients from several different genetic subgroups, who had been followed with visual acuity and visual field testing for periods up to 32 years, were examined. Ophthalmological examination included full-field electroretinography (ERG), multifocal electroretinography (mfERG) and multifocal visual evoked potential (mfVEP). RESULTS: The ERGs were severely reduced in all patients. The mfERGs demonstrated the residual central retinal function in five of the patients. The mfVEPs showed measurable amplitudes centrally in most of the patients. The follow-up examinations demonstrated the slowly progressive course of the disease with preservation or only slight further loss of visual fields over a period of 7-32 years. CONCLUSION: Patients with retinitis pigmentosa may not always follow the typical natural course with progressive loss of visual fields, which may in some patients remain unaffected over several decades. Multifocal ERG and mfVEP may be clinically useful for evaluating remaining visual function in these patients.     

Unilateral retinitis pigmentosa sine pigmento.

A patient presented with unilateral findings of night blindness shown by impaired rod function and dark adaptation, constricted visual fields with good central acuity, a barely recordable electro-retinographic b-wave, and a unilaterally impaired electro-oculogram. There were none of the pigmentary changes usually associated with retinitis pigmentosa. The unaffected right eye was normal in all respects. Therefore the case is most probably one of unilateral retinitis pigmentosa sine pigmento.     

Acute macular neuroretinopathy--case report

PURPOSE: The aim of this study is to present rare retinal disease of unknown origin. MATERIAL AND METHODS: 27-years-old man was diagnosed because of poor vision in the left eye, which lasted 4-5 weeks. Following examinations were performed: Visual acuity, contrast sensitivity, color perception, visual field, fluorescein angiography (AF), visual evoked potentials (VEP), full-field flash electroretinography (flash ERG), focal-foveal electroretinography (focal ERG), multifocal electroretinography (multifocal ERG). Follow-up 1.5 year. RESULTS: Visual acuity of right eye was 1.25 (-0.1 log MAR) and left eye 1.0 (0.0 log MAR). In left eye between optic disc and macula irregular lesion with dots of retinal pigment epithelium atrophy and little edema was seen. AF revealed small "window" defects. In visual field of the left eye paracentral relative scotoma occurred and in stereokampimetry central relative scotoma was found about 5 degrees from the fixation point. In VEP latency of P100 was delayed and amplitude was reduced in both eyes. In flash as well as focal ERG small reduction of cone function and delayed implicit time of b-wave were found in left eye. In general examination no focal inflammation and no abnormalities in laboratory tests were found. The patient was treated with steroids for 3 weeks. After ten days of general steroid treatment visual acuity improved to 1.25 and subjective improvement of vision occurred. Control examination after 1.5 year revealed no patient's complains, visual acuity 1.25, no change in visual field, VEP improvement. In left eye flat irregular area with pigment epithelium atrophy was seen. CONCLUSIONS: Acute macular neuroretinopathy may be diagnosed after detail examination. Prognosis is generally good, recovery is slow, but despite of local retinal atrophy subjective complains disappear completely.     

Preliminary report: indications of improved visual function after retinal sheet transplantation in retinitis pigmentosa patients.

PURPOSE: To report indications of new visual function after retinal transplantation in two blind patients with retinitis pigmentosa. METHODS: Intact sheets of fetal retina (15 and 17 weeks gestational age) were transplanted subretinally (between the neurosensory retina and the retinal pigment epithelium) near the fovea in the left eye of a 23-year-old white man (Patient A) and in the left eye of a 72-year-old white woman (Patient B), both with autosomal-recessive retinitis pigmentosa. RESULTS: Postoperatively, at 6 and 5 months, respectively, both patients reported new visual sensation in the visual field corresponding to the transplant. In both patients, the visual sensation continued to be present after transplantation, at 12 and 8 months, respectively. In Patient A, a transient multifocal electroretinography (mfERG) response was observed in the transplant area 4 months postoperatively but was not detectable in Patient A at 6.0 and 9.5 months post-retinal transplantation. In Patient B, no positive mfERG responses were seen up to 5 months postoperatively. No rejection (presenting as cystoid macular edema, macular pucker, and extensive intraretinal edema with disrupted retinal pigment epithelium) to the transplanted tissue was seen up to 13 months in Patient A and 9 months in Patient B by fluorescein angiography. CONCLUSION: Transplantation of intact sheets of fetal human retina in two patients with retinitis pigmentosa was not associated with evidence of transplant rejection. Subjective improvement and an indication of objective improvement 4 months postoperatively were seen in Patient A, and subjective improvement only was seen in Patient B.     

Recovery of visual function in patient with melanoma-associated retinopathy treated with surgical resection and interferon-beta

We report on a 33-year-old woman who was treated for a cutaneous malignant melanoma on a left finger by surgical resection and chemotherapy including local injections of interferon-beta in 2007. In March 2009, the melanoma had metastasized to her left hand, and she underwent metastasectomy and monthly local injections of interferon-beta. She developed shimmering vision, photopsia, blurred vision, and night blindness in her left eye in April 2009 and visited our clinic. At our initial examination, her best-corrected visual acuity was 1.5 OD and 1.2 OS, and ophthalmoscopy showed that the retina appeared normal in both eyes. However, there was a mild narrowing of retinal arteries in the left eye. Humphrey field analyzer (HFA) showed a reduction in retinal sensitivity within the central 30° of the left eye. The maximum combined response of the full-field electroretinogram (ERG) had a normal waveform in the right eye and a negative waveform in the left eye. Immunocytochemical tests showed antibodies against retinal bipolar cells, which confirmed the diagnosis of melanoma-associated retinopathy (MAR). The metastatic melanoma was successfully treated. Seventeen months after her first visit, her visual acuity was 1.5 OD and 1.2 OS, and HFA showed normal retinal sensitivity in both eyes. The full-field ERGs were also normal in both eyes. Although several therapeutic modalities have been proposed for MAR, surgical resection with local injections of interferon-beta should be considered as a treatment option for MAR patients.     

Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS

PURPOSE : To characterize the clinical phenotype, with emphasis on electrophysiology, of members of a Swedish family with autosomal dominant retinitis pigmentosa due to a novel mutation, F211L, in the peripherin/RDS gene. METHODS : Nine patients with autosomal dominant retinitis pigmentosa and two healthy family members underwent a full clinical evaluation including kinetic visual field testing, measurement of dark adaptation threshold, and full-field electroretinography. Blood samples were collected and DNA analysis was performed using denaturing gradient gel electrophoresis (DGGE). RESULTS : The grandfather, six of seven siblings from the middle generation, and two young boys carried the mutation F211L in the peripherin/RDS gene. The mutation segregated with the clinical presentation of disease. Fundus examination revealed mainly macular atrophy. All assessed parameters of retinal function (visual acuity, dark adaptation threshold, visual fields, and full-field electroretinograms) demonstrated a successive reduction with increasing age. Full-field electroretinograms showed a diminished rod response in all affected individuals and a reduction of the cone b-wave amplitudes with increasing age, indicating retinitis pigmentosa. In the affected family members, the disease seems to progress at a similar rate with increasing age. CONCLUSIONS : The peripherin/RDS gene mutation F211L is associated with a clinical phenotype and includes early loss of rod function and successive reduction of cone function with increasing age, but impressively well-preserved visual acuity and visual fields in young and middle-aged patients and moderately reduced vision in the old patient. Compared to previously described phenotypes segregating with mutations in the peripherin/RDS gene, the present family demonstrates a more benign clinical phenotype, which is concordant within the family.     

Flash full-field electroretinography in diseases with night blindness

PURPOSE: The aim of this study is to present similarities and differences of electroretinograms in early stages of retinal diseases with nyctalopia. MATERIAL AND METHODS: Flash full-field electroretinography was done according to ISCEV standards and also with chromatic stimulations in patients with nyctalopia, who were diagnosed as various forms of congenital stationary night blindness and various types of retinitis pigmentosa, choroideremia, gyrate atrophy and also in patients with nyctalopia, because of unknown reason. ERG results were compared with normal values and with each other. RESULTS: In diseases with nyctalopia the function of peripheral retina is markedly abnormal and scotopic ERG is significantly reduced or even absent. In retinitis pigmentosa a-wave is small or absent especially scotopic but photopic ERG is also abnormal. Well preserved a-wave distinguished ERG of patients with stationary night blindness from the other progressive diseases of retina or choroid. CONCLUSIONS: In patients with nyctalopia using ERG is possible to obtain which retinal elements do not work but it is only start point to following diagnostic examinations, to make proper final diagnosis.     

From the symptom to electroretinography diagnosis]

Retinal function can be documented noninvasively and objectively by electroretinography, complementing clinical examinations. Symptoms of nightblindness and of dayblindness with photoaversion, nystagmus, poor vision in infants or unclear visual field defects are meaningful indications for ERG testing. We use standardized (ISCEV) full-field single flash ERGs to evaluate the function of the rod- and of the cone-system. In infants, general anesthesia is useful to combine an abbreviated ERG protocol with ophthalmoscopy and fundus photography. ERG testing facilitates to distinguish between functional deficits in the rod- and cone-system, between congenital-stationary retinal dysfunction and progressive retinal heredo-degenerations. Frequently a functional deficit of the retina without ophthalmoscopic changes can be assessed. These entities include achromatopsia, congenital stationary night blindness, early stages of retinitis pigmentosa (RP) or progressive cone dystrophy, as well as toxic retinal changes. Congenital amaurosis Leber (LCA), infantile RP, Usher's syndrome and retinal involvement in other neuropediatric or metabolic syndromes can be diagnosed or excluded by ERG recording early-on. Synoptic evaluation of the full-field ERG, pattern-ERG and VEP completes neuro-ophthalmological screening.     

Concentric retinitis pigmentosa: clinicopathologic correlations

Progressive concentric (centripetal) loss of vision is one pattern of visual field loss in retinitis pigmentosa. This study provides the first clinicopathologic correlations for this form of retinitis pigmentosa. A family with autosomal dominant concentric retinitis pigmentosa was examined clinically and with visual function tests. A post-mortem eye of an affected 94 year old family member was processed for histopathology and immunocytochemistry with retinal cell specific antibodies. Unrelated simplex/multiplex patients with concentric retinitis pigmentosa were also examined. Affected family members of the eye donor and patients from the other families had prominent peripheral pigmentary retinopathy with more normal appearing central retina, good visual acuity, concentric field loss, normal or near normal rod and cone sensitivity within the preserved visual field, and reduced rod and cone electroretinograms. The eye donor, at age 90, had good acuity and function in a central island. Grossly, the central region of the donor retina appeared thinned but otherwise normal, while the far periphery contained heavy bone spicule pigment. Microscopically the central retina showed photoreceptor outer segment shortening and some photoreceptor cell loss. The mid periphery had a sharp line of demarcation where more central photoreceptors were near normal except for very short outer segments and peripheral photoreceptors were absent. Rods and cones showed abrupt loss of outer segments and cell death at this interface. It is concluded that concentric retinitis pigmentosa is a rare but recognizable phenotype with slowly progressive photoreceptor death from the far periphery toward the central retina. The disease is retina-wide but shows regional variation in severity of degeneration; photoreceptor death is severe in the peripheral retina with an abrupt edge between viable and degenerate photoreceptors. Peripheral to central gradients of unknown retinal molecule(s) may be defective or modify photoreceptor degeneration in concentric retinitis pigmentosa.     

Visual acuity and perimacular retinal layers detected by optical coherence tomography in patients with retinitis pigmentosa

BACKGROUND: The remaining retinal neurones or layered structure in the degenerating retina have been the prerequisite for epiretinal or subretinal retinal prostheses. AIM: To detect the layered structure in the eyes of patients with retinitis pigmentosa by optical coherence tomography. METHODS: In a prospective non-comparative study, 115 eyes of 58 consecutive patients with retinitis pigmentosa underwent optical coherence tomography to obtain horizontal and vertical retinal cross-section images at the centre of the macula. The number of high-reflectance retinal layers, one, two or three layers, was tested to determine whether it correlates with best-corrected visual acuity. RESULTS: The best-corrected visual acuity was significantly better in the eyes in which more retinal layers were detected (p<0.001, Kruskal-Wallis test, p<0.05, Tukey-Kramer test). The best-corrected visual acuity in the right eye and in the left eye was correlated with each other (p<0.001, Spearman rank correlation test) and decreased with age. CONCLUSIONS: Optical coherence tomography can be used to obtain information regarding the retinal layer structure in patients with retinitis pigmentosa, and may be used as a clinical test to assess the feasibility of retinal prostheses in future.     

Electrophysiological evaluation of visual loss in Müller cell sheen dystrophy

AIMS—To describe the clinical picture and electrophysiological findings in Müller cell sheen dystrophy, a recently reported retinal dystrophy.
METHOD—A basic ophthalmological evaluation as well as recording of standard electro-oculography and electroretinography were performed in one patient at the onset of visual loss and after 1 year of follow up.
RESULTS—A 61 year old woman presented with visual loss in the right eye. Multiple folds at the level of the internal limiting membrane were seen at the posterior pole in both eyes. Macular oedema was present in the right eye. The visual acuity of the right eye was 6/30 and of the left 6/9. A paracentral scotoma was found in the right eye. Electro-oculographic examination of both eyes gave normal results. Electroretinography (ERG) revealed reduced b-wave and flicker amplitudes in the right eye; these potentials were normal for the left eye. The ON response in the right eye was reduced and delayed; it was normal in the left eye. A further loss of visual function was noted 1 year later in the right eye, but the ophthalmoscopic findings were unchanged. The ERG of the right eye had a negative waveform when dark adapted. Light adapted responses showed an unusual delayed b-wave, broad and delayed ON and OFF responses and a missing flicker response, suggesting a Müller cell dysfunction. Light adapted responses were slightly reduced in the left eye.
CONCLUSIONS—Electrophysiological data indicate Müller cell dysfunction as a background of functional loss in Müller cell sheen dystrophy. This is in agreement with previously reported histological findings in this disorder.

Keywords: internal limiting membrane; electroretinography; retinal degeneration; Müller cells     

Retinopathy caused by interferon alpha associated with ribavirin therapy and the importance of the electro-oculogram: a case report

AIM: Ophthalmological complications with interferon alpha (INF-alpha) have been described since 1992: toxic retinopathy with cotton-wool spots, retinal hemorrhages, visual evoked potential (VEP) modifications and visual field abnormalities. MATERIAL AND METHOD: In 2002, a 44-year-old woman was referred complaining of visual problems. In 1986, she had been diagnosed with chronic hepatitis C and underwent INF-alpha therapy for 6 months with no ophthalmological symptoms. In 2001, she began a second course of INF-alpha therapy along with ribavirin. After 5 months, in February 2002, she developed hypothyroidism induced by INF, received levothyroxine and her treatment for the hepatitis C was stopped. One month later, in March, she complained of visual difficulties in dim light. Clinical ophthalmological examination and Goldmann visual field testing, electroretinogram (ERG) and visual evoked potentials (VEP) were normal but the electro-oculogram (EOG) showed that the light-peak-to-dark-trough ratios were very low: 148% in the right eye, 156% in the left eye. The fluorescein angiography was normal. The patient was followed up 4 months later, in June 2002 (after 5 months without INF-alpha therapy), showing a slight improvement of the EOG and no visual symptoms. Two other follow-up examinations were done in September 2002 and January 2003: the slight improvement persisted but the EOGs remain below the normal range values. DISCUSSION AND CONCLUSION: A review of the literature brought out that an EOG is not usually done in the monitoring of patients taking INF-alpha, but we decided to do this examination because of her symptoms, the first case to our knowledge in a patient taking INF-alpha. This case report underlines the necessity of an EOG on patients with INF-alpha therapy. Until now, the pathogenesis of this retinal toxicity has been poorly understood. These results show that the retinal pigmented epithelium is probably implicated at an early stage in this retinal toxicity.     

A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration

Purpose: To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. Methods: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven patients with autosomal dominant retinitis pigmentosa and three healthy family members. Denaturing gradient gel electrophoresis (DGGE) was used for mutation screening in seven patients and six healthy members of the family. Results: Three of four siblings from the middle generation and four of the younger generation were heterozygous for the peripherin/RDS Arg-172-Trp mutation. The mutation segregated with the disease. Visual acuity decreased progressively with age and visual fields were moderately constricted in young patients, while central scotoma and constriction of the fields were detected in the family members above 50 years of age. The results from full-field electrography were comparable with a widespread retinal degeneration. Conclusions: Earlier, the peripherin/RDS Arg-172-Trp mutation was associated primarily with a macular degeneration phenotype. One previous study indicated that this mutation also can give rise to a degeneration of the more peripheral parts of the retina. In the present study, a widespread retinal degeneration is seen in the patients above 50 years of age, carrying the Arg-172-Trp mutation.     

Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene

PURPOSE: To evaluate the clinical features associated with the RP10 form of autosomal-dominant retinitis pigmentosa in 11 affected members of various ages from one family with a defined IMPDH1 mutation (Asp226Asn). DESIGN: Prospective, observational case series. METHODS: Visual function assessment included visual acuity, color vision, visual field, dark adaptometry, full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Ophthalmologic examinations, fundus photography, and optical coherence tomographic scans were also performed. Blood samples were obtained to screen for basic immune function. RESULTS: Visual acuity was slightly reduced in the teenage years and substantially reduced in association with cystoid macular edema (CME) at all ages. Color defects were observed in three patients (one teen, two adults). Dark-adapted thresholds were elevated. Visual fields were markedly constricted by age 40 (相似文献   

Multifocal electroretinography response after laser photocoagulation of a subretinal nematode

PURPOSE: To describe multifocal electroretinography findings before and after laser photocoagulation of a subretinal nematode in diffuse unilateral subacute neuroretinitis. METHOD: Observational case report. A 45-year-old woman with left eye inflammation, subretinal tracts superior and temporal to the fovea, and a subretinal coiled mobile parasite was treated with laser photocoagulation to destroy the nematode. Multifocal electroretinography was performed before and after laser photocoagulation. RESULTS: In the left eye, multifocal electroretinography before treatment showed decreased foveal response density and increased parafoveal and perifoveal waveform amplitudes. Two months after laser photocoagulation, multifocal electroretinography showed full recovery of normal findings and the visual acuity remained 20/20. CONCLUSION: Multifocal electroretinography appears to be useful in evaluating the retinal findings after photocoagulation of a parasite associated with diffuse unilateral subacute neuroretinitis.     

Effect of mydriasis on visual field area in retinitis pigmentosa.

PURPOSE: The effect of mydriasis on Goldmann visual field area in patients with retinitis pigmentosa has not been suitably defined. The aim of this study is to determine whether visual field area in these patients varies with pharmacologic mydriasis. METHODS: Fifteen adult patients with retinitis pigmentosa were studied prospectively. Goldmann visual fields with II4e and V4e isopters were obtained in both eyes before and after full pharmacologic mydriasis of the right eye. The isopter areas were quantified and analyzed to determine the effect of mydriasis on visual field area. RESULTS: The difference in the right eye isopter areas was compared with the difference in the left eye isopter areas using paired t tests, where the differences were computed from areas obtained before and after dilation of the right eye. Mydriasis had no significant effect on the visual field in terms of isopter area difference (II4e, P = 0.87; V4e, P = 0.45) and percent change in isopter area (II4e, P = 0.81; V4e, P = 0.24). CONCLUSION: Pharmacologic mydriasis had no appreciable effect on the Goldmann visual field area in a selected group of patients with retinitis pigmentosa. These findings suggest that visual fields of such patients obtained in the dilated or undilated state can be meaningfully compared.     

Unilateral pigmented paravenous retinochoroidal atrophy

We report the case of an asymptomatic unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) in a 43-year-old patient. The right eye showed chorioretinal atrophy with bone-spicule-like pigmentations along the retinal veins. Visual acuity was 20 / 20 and perimetry revealed scotomas correlating to the chorioretinal atrophy. Electrophysiological examination showed decreased signals in ERG and EOG. Fundus autofluorescence and angiography findings are presented. Pathogenetically, a classification as hereditary retinal dystrophy (as in retinitis pigmentosa) as well as a post-inflammatory residuum are discussed.