A case of immotile cilia syndrome accompanied by retinitis pigmentosa

A case of immotile cilia syndrome accompanied by retinitis pigmentosa is reported. This syndrome involves congenital ciliary ultrastructural abnormality. A 27-year-old male complained of repeated pneumonia, sinusitis, and middle otitis. In addition, he had sperm motor insufficiency and electron microscopic finding of cilia led to the diagnosis of the present syndrome. Both fundi presented remarkable degeneration of retinal pigment epithelium and choroid and marked arterial narrowing. Constriction of the visual field and extinguished ERG were also noted. Abnormality of cilia of the retinal pigment epithelium was suggested. It was proposed that retinitis pigmentosa may be caused by abnormal cilia of the retinal pigment epithelium.     

结晶样视网膜色素变性的荧光素眼底血管造影特点分析

目的分析结晶样视网膜色素变性的荧光素眼底血管造影(FFA)特点,进一步探索其发病机制。设计回顾性病例系列。研究对象结晶样视网膜色素变性患者。方法北京同仁医院眼科中心2004～2006年门诊诊断的结晶样视网膜色素变性患者32例。所有患者均行FFA检查。主要指标FFA表现。结果全部患者FFA显示后极部斑驳状、点状透见荧光。背景荧光部分增高,部分减弱。视盘高荧光或部分高荧光8例。2例环以低荧光。动脉血管变细18例,但其中仅3例出现血管充盈迟缓。4例视网膜血管闭塞,且全部位于周边部。3例视网膜后极部血管渗漏。仅1例出现无灌注区。6例黄斑拱环结构破坏或结构不清。结论结晶样视网膜色素变性的FFA特点显示:其病变主要是视网膜色素上皮细胞改变和脉络膜毛细血管的萎缩,同时累及神经视网膜及其视网膜血管组织。     

RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases

Many genes from retinoid metabolism cause retinitis pigmentosa. Peropsin, an opsin-like protein with unknown function, is specifically expressed in apical retinal pigment epithelium microvilli. Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to screen for the peropsin gene RRH in 331 patients (288 with retinitis pigmentosa and 82 with other retinal dystrophies). We found 13 nonpathogenic variants only, among which a c.730_731delATinsG that truncates the last two transmembrane-spanning fragments and the Lys284 required for retinol binding, but does not segregate with the disease phenotype. We conclude that RRH is not a frequent gene in retinitis pigmentosa.     

Early-onset autosomal dominant retinitis pigmentosa with severe hyperopia

We studied a four-generation family with early-onset autosomal dominant retinitis pigmentosa, severe hyperopia, and axial eye lengths of less than 20 mm. The affected members had decreased vision, night blindness, typical peripheral retinal pigmentary changes, and electroretinographic abnormalities characteristic of retinitis pigmentosa. This pedigree suggests there is another variant of retinitis pigmentosa associated with hyperopia besides Leber's congenital amaurosis and preserved para-arteriole retinal pigment epithelium.     

Peripheral retinal telangiectasis in retinitis pigmentosa

The association between retinitis pigmentosa and retinal telangiectasis has been rarely reported. The case of a young woman affected with retinitis pigmentosa and telangiectasis involving bilaterally and symmetrically the inferior retinal periphery is described. Moreover, the patient showed a high degree edema of the retina produced by the permeabilization of the retinal capillaries (especially foveal capillaries) and by the passage of fluid from the choroid through the damaged retinal pigment epithelium. The telangiectasis were successfully treated with cryotherapy. The telangiectasis found in patients with retinitis pigmentosa have to be distinguished from other forms of telangiectasis, as those found in young males or those of the temporal retinal periphery of adults, in which respect they have particular characteristics. The cause of the telangiectasis and of the breakdown of the blood-retinal barrier in retinitis pigmentosa is not know. It is probable that they are produced by a toxic or inflammatory action on the vessels mediated by retinal antigens.     

Combined photic and nonphotic electro-oculographic responses in the clinical evaluation of the retinal pigment epithelium

In an attempt to simplify the recording technique in electrophysiologic evaluation of the retinal pigment epithelium, we combined the electro-oculographic light rise, hyperosmolarity and acetazolamide responses in a single recording session. Recordings were performed in six normal subjects and in seven patients with diabetic retinopathy or retinitis pigmentosa. In the patients with background diabetic retinopathy, the hyperosmolarity responses were slightly reduced, while the acetazolamide response and the light rise was normal. In the patients with proliferative diabetic retinopathy, the hyperosmolarity response and light rise were remarkably reduced, while the acetazolamide response was normal. In the patients with retinitis pigmentosa, the hyperosmolarity response and light rise were decreased, while the acetazolamide response was normal. Despite a small study population, we concluded that the clinical results from our combined recording protocol were essentially the same as those reported for each response separately. Because this recording technique simplifies electrophysiologic evaluation of the retinal pigment epithelium, it may help clarify the mechanisms or localization of retinochoroidal and pigment epithelial diseases.     

Retinal fluorescein leakage in retinitis pigmentosa

Of 82 consecutive patients with retinitis pigmentosa, 78 underwent fluorescein angiography using standard and special, abbreviated photographic protocols. The stereoscopic angiograms disclosed alterations of the blood-retinal barrier, primarily at the level of the retinal pigment epithelium, in 60 patients. Areas of leakage were bilateral in all but two persons. The macula most frequently showed leakage, followed by the optic disk, the arcade areas, and the periphery. A few individuals exhibited leakage from the perifoveal retinal vessels. None of these patients had significant retinal vascular alterations or exudates in the retinal periphery. In eyes with no cataract or detectable macular pigment change and with comparable amounts of epiretinal membrane, the presence of macular edema was significantly correlated with reduced central visual acuity.     

Sector retinitis pigmentosa: a fluorescein angiographic study.

Flourescein angiography has been proved to be of value in the study of the chorioretinal abnormaliteis in sector retinitis pigmentosa. The findings from two patients, one being in an early and the other in a more advanced stage were analyzed. The pigment epithelium was found to be disturbed in a larger area than visible by ophthalmoscopy. In the impaired quadrant the retinal vessels were narrowed showing delayed and slow dye transit. Through the discolorated pigment epithelium leaky choriocapillaries were disclosed. Moreover, in the severly affected patient, areas missing choriocapillar perfusion and retinal circulation were also detected.     

Transmission electron microscopic observations of vitreous abnormalities in retinitis pigmentosa

Ultrastructural studies of six vitreous biopsy specimens obtained during cataract surgery on patients with retinitis pigmentosa showed four types of cells. These were ocular pigment epithelium, uveal melanocytes, retinal astrocytes, and macrophage-like cells. The fibrous astrocytes displayed plump cell bodies, large nuclei, and numerous intracytoplasmic filaments. The pigment epithelial cells and uveal melanocytes were round to cuboidal and were heavily pigmented. Macrophage-like cells demonstrated round cell bodies, inclusions of glycogen, and long processes extending from the cell membrane. Also identified in the vitreous material were loose pigment granules. In contrast, vitreous from the control group showed occasional macrophages and loose pigment. These findings explained the clinical observation of material within the vitreous of patients with retinitis pigmentosa.     

Central serous chorioretinopathy associated with retinitis pigmentosa

Macular changes may appear in retinitis pigmentosa patients and include macular atrophy, cystoid macular edema, retinal cysts, and holes. However, other primary macular diseases have not been described in patients with retinitis pigmentosa, probably because of atrophy of the retinal pigment epithelium (RPE) and the overlying retina. We present a 35-year-old patient whose first symptom was an acute decrease in visual acuity due to central serous chorioretinopathy (CSCR). Retinitis pigmentosa was subsequently diagnosed. We assume that the macular RPE changes may be attributed to both cone and RPE atrophy or other macular pathophysiologic processes, one of which may be CSCR.     

Macular diseases--application of automated static perimetry and optical coherence tomography

The usefulness of automated static perimetry and optical coherence tomography in the management of macular diseases has been described. Scotomata in eyes with central serous chorioretinopathy could be evaluated with central 10-degree automated static perimetry. The degree of visual field defects in eyes with the disease varied greatly with mean deviation of -10 dB or less in as many as 10% of the subjects. Although retinitis pigmentosa is a diffuse retinal dystrophy, eyes with a moderately advanced stage of retinitis pigmentosa should be managed as a macular disease, because the functioning retina is confined within the vascular arcade. The progressive nature in this stage of the disease could be demonstrated with a central 10-degree automated static perimetry measured once or twice a year and the use of univariate linear regression of mean deviation, in half of the patients with a mean follow-up period of 5 years. Functional recovery in eyes with exudative age-related macular degeneration after laser surgery or submacular surgery could be evaluated with central 10-degree automated static perimetry. Eyes with increased mean deviation in spite of reduced visual acuity after therapeutic intervention should also be evaluated. Macular function could also be evaluated using a color test. A newly developed color saturation discrimination test was applied to patients with age-related macular degeneration, retinitis pigmentosa, and cone dystrophy. The degree of dyschromatopsia was less in eyes with age-related macular degeneration than in those with retinitis pigmentosa or cone dystrophy with the same level of acuity loss. The highly protrusive nature of the orange-red nodule in eyes with idiopathic polypoidal choroidal vasculopathy was demonstrated with dimensional measurement with OCT. The degree of protrusion was greater than in eyes with serous pigment epithelial detachment, which suggests that the polypoidal lesion is covered with rigid tissues including Bruch's membrane. Parafoveal retinal sensitivity obtained with automated static perimetry was studied in correlation with retinal thickness measured using OCT in eyes with branch retinal vein occlusion showing macular edema without macular non-perfusion or massive retinal hemorrhages. The increased retinal thickness due to macular edema is closely correlated with retinal sensitivity both at the fovea and in the parafoveal area. Eighty-nine phakic eyes of 46 patients with retinitis pigmentosa patients were studied to detect cystoid macular edema using OCT. Cystoid lesions were observed in the macula in 12 eyes in 6 (13%) of 46 patients. Some eyes with OCT-proven cystoid macular edema did not show dye pooling in the fluorescein angiogram. The width of the total area of cystoid lesions was positively correlated with best-corrected visual acuity but the thickness of the neurosensory retina at the center of the fovea was not. OCT findings of successfully repaired macular holes were categorized into 3 groups. Eyes with U-type showed a normal foveal contour and a dark layer corresponding to the outer segment of photoreceptors. Eyes with V-type showed a notch in the surface of repaired neurosensory retina without a dark layer on the retinal pigment epithelium. Those with W-type showed a defect of the neurosensory retina, where the retinal pigment epithelium was exposed. The visual results were excellent in eyes with U-type, but poor in those with W-type.     

原发性视网膜色素变性合并血管闭塞的临床特点分析

目的探讨原发性视网膜色素变性(RP)合并视网膜血管闭塞患者的临床特点及预后。方法回顾性分析18例(36只眼)原发性RP合并视网膜血管闭塞患者的临床资料,包括眼底检查、荧光素眼底血管造影、吲哚氰绿血管造影、视网膜电图及视诱发电位等检查结果。对3例患者进行基因筛选。结果原发性RP合并视网膜血管闭塞患者的临床表现有视乳头萎缩、视网膜血管变细、广泛视网膜色素上皮萎缩。视网膜电图检查显示a、b波为无波型或近无波型。患者多有夜盲史。既符合原发性RP的临床表现,又具有血管闭塞的自身特征,如晚期血管可完全或近完全闭塞、视神经明显萎缩、脉络膜血管受累,最终致盲速度较原发性RP快,且无有效疗法。3例患者经基因筛查,在RHO及RLBPI两基因编码区中,未发现基因突变。结论原发性RP合并视网膜血管闭塞可能属于毯层视网膜变性范畴,血管进行性闭塞可能是其合并的临床表现。     

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.     

Clinical-ultrastructural study of a retinal dystrophy

An ultrastructural and cytochemical study was performed on the retina and retinal pigment epithelium of an eye surgically enucleated for choroidal melanoma from an otherwise healthy 31-year-old man. The patient and his identical twin show a retinal dystrophy that, based on clinical appearance, visual fields, amd electrophysiology, is most likely autosomal recessive retinitis pigmentosa. Rod and cone photoreceptors were reduced in numbers and outer segments were virtually absent in the region corresponding to the patient's poorest vision. In the region from approximately 20 degrees to 60 degrees (best field of vision), the outer segments of rods and cones were shortened and disorganized. The retinal pigment epithelium showed reactive changes in areas of most severe photoreceptor pathology, including re-duplication, loss of melanin, increased melanolysosomes, and migration of individual cells into the retina. The acid phosphatase reactivity of both the retinal pigment epithelium and photoreceptor cells appeared normal, as were the photoreceptor cilia and inner layers of the retina. This study thus provides improved ultrastructural documentation of a relatively early case of retinitis pigmentosa that may provide a foundation for further functional studies aimed at elucidation of this enigmatic retinal dystrophy.     

Ocular abnormalities occurring with vitiligo

One hundred twelve patients with vitiligo were examined for ocular abnormalities. Discrete areas of depigmentation with associated pigment hyperplasia clinically appearing to involve the choroid and retinal pigment epithelium were observed in 44 patients, and active uveitis was seen in nine patients. The changes observed suggest that the spectrum of diseases that includes Harada's disease and the Vogt-Koyanagi syndrome may be broader than previously appreciated. Patients with these syndromes may represent the most severe examples of vitiligo and uveal inflammation. The occurrence of symptoms of night blindness in 12 patients and a family history of retinitis pigmentosa in two of these may signify a possible malfunction of the retinal pigment epithelium. Further evidence for a pigment epithelium disorder is suggested by the high incidence of an unusually prominent choroidal pattern in these patients.     

Management of hereditary retinal degenerations: present status and future directions.

Research on hereditary retinal degenerations has considerably improved our understanding of these disorders, although much remains to be learned about the exact mechanism involved in the pathogenesis. The advent of recombinant DNA technology will refine diagnostic capabilities, which have so far been based on the manifestations of the disease to localization of the molecular defects. The correlation of the molecular defects with the phenotype of the disease will result in better prognostic counseling for patients. In certain forms of retinitis pigmentosa, such as Refsum disease, gyrate atrophy of the choroid and retina, and abetalipoproteinemia, exact biochemical defects have been identified and specific treatments have been applied with some success. In other forms of retinitis pigmentosa, various investigations have suggested the possibilities of arresting the progress of degeneration by means such as the use of growth factors and controlling apoptosis. Efforts to alter the expression of the mutated gene or to introduce a normal gene into the genome are in their infancy, but results are encouraging. Vitamin A has been tried in patients with retinitis pigmentosa, and the results demonstrate statistically significant beneficial effects of this vitamin, suggesting that the course of the disease can be decelerated to some extent. Another interesting research area with potential for therapeutic application is the replacement of the retinal pigment epithelium or the degenerated neural retina by transplantation of the respective cell types. Clinical trials are being conducted both with retinal pigment epithelium and neuroretinal transplants.     

Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.

Five patients with retinitis pigmentosa (RP) with probable autosomal recessive inheritance have been identified in whom there is relative preservation of retinal pigment epithelium adjacent to and under retinal arterioles despite a panretinal degenerative process. All the patients were hypermetropic, though patients with RP tend to be myopic. This implies that there is a factor associated with retinal arterioles which locally retards the RP process in these patients. It may be appropriate to look for the PPRPE pattern in hypermetropic RP patients.     

Retinitis pigmentosa and retinal oedema.

Twenty-five patients with retinitis pigmentosa and retinal leakage were investigated. Oedema was present in dominant and X-linked inherited disease and is likely to be present in recessive disease as well. We suggest that this might be a general response seen in many types of tapeto-retinal degeneration to actively degenerating photoreceptors or pigment epithelium.     

Retinal changes in myotonic dystrophy: a clinicomorphological study

This report appears to be the first ultrastructural study of the maculopathy and peripheral pigmentary retinopathy in myotonic dystrophy. Nine eyes from five patients observed during life are described. The findings were similar in all eyes, the retinal pigment epithelium in the macular region containing an accumulation of lipofuscin in large hyperpigmented cells. Pigment-laden profiles found in the subpigment epithelial space or subretinal space were interpreted as an attempt to discharge the pigment. Stress fibres of actin microfilaments were thrown into prominence by the irregularity of the pigment epithelium. In the periphery migration of retinal pigment cells into the retina occasionally resulted in the formation of bone corpuscles around occluded vessels, as occurs in retinitis pigmentosa; but more often the clumps were coarser and surrounded basement membrane material. Central and peripheral epiretinal membranes were also observed.     

Normal interaction of plasma retinol-binding protein from retinitis pigmentosa with bovine pigment epithelium.

The interaction between retinol-binding protein and normal bovine pigment epithelium has been studied with the use of iodinated retinol-binding protein isolated from the plasma of patients with the recessive form of retinitis pigmentosa and of normal subjects. It is concluded that the capacity of the plasma carrier protein to interact with the retinol-binding protein receptor of bovine pigment epithelium is unimpaired in retinitis pigmentosa with autosomal recessive inheritance.