RESUMEN

RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle. In patients with inherited retinal dystrophy (IRD), precise genetic diagnosis is an indispensable approach as it is required to establish eligibility for the genetic treatment of RPE65-associated IRDs. This case report aims to report the specific phenotype−genotype correlation of the first patient with a homozygous missense variant RPE65 c.499G>T, p. (Asp167Tyr). We report a case of a 66-year-old male who demonstrated a unique phenotype manifesting less severe functional vision deterioration in childhood and adolescence, and extensive nummular pigment clusters. The underlying causes of the differences in the typical bone spicule and atypical nummular pigment clumping are unknown, but suggest that the variant itself influenced the rate of photoreceptor death. Functional studies are needed to define whether the substitution of aspartate impairs the folding of the tertiary RPE65 structure only and does not lead to the complete abolishment of chromophore production, thus explaining the less severe phenotype in adolescence.

RESUMEN

ABSTRACT Acute retinal pigment epitheliitis (ARPE) is an idiopathic, self-limiting inflammatory retinal disorder that particularly affects healthy young individuals. The characteristic fundoscopic appearance of the acute retinal pigment epitheliitis includes a fine pigment stippling surrounded by a yellow-white hypopigmented halos in the macula. Although the exact pathogenesis of the disease remains unknown, some reports have suggested a relationship between a viral infection and acute retinal pigment epitheliitis. Acute retinal pigment epitheliitis is a rare disorder, and only single case reports or case series are found in the literature. The clinical and demographic characteristics of patients with this disease are not fully understood because of its rarity. In this study, we searched the literature to collect clinical and demographic features of the reported cases. We detail the characteristics of acute retinal pigment epitheliitis were pointed and discuss the pathogenesis of the disease.(AU)

RESUMO A epitelite pigmentar retiniana aguda (EPRA) é uma doença inflamatória idiopática e autolimitada da retina, que afeta especialmente indivíduos jovens e saudáveis. À fundoscopia, a aparência característica dessa entidade é de um pontilhado fino do pigmento, cercado de halos hiperpigmentados branco-amarelados na mácula. A patogênese exata da doença ainda é desconhecida, mas alguns relatos apontam uma relação entre epitelite pigmentar retiniana aguda e infecções virais. A epitelite pigmentar retiniana aguda é uma condição rara e na literatura há apenas relatos de casos individuais ou séries de casos. As características clínicas e demográficas da doença não são totalmente compreendidas, devido à sua raridade. Para este relato, foi feita uma busca na literatura para coletar os dados clínicos e demográficos dos casos relatados. Finalmente, são apontadas as características da epitelite pigmentar retiniana aguda e discute-se a patogênese da doença.(AU)

Asunto(s)

RESUMEN

OBJECTIVE: To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa. METHODS: Case report. Retrospective data analysis. RESULTS: The mutation is located within codon 15 of exon 1 of the RHO gene. A single base-pair transversion lead to a specific lysine-for-asparagine substitution (Asn15Lys). Hypoacusis, myopia, dyschromatopsis and diffuse retinitis pigmentosa were detected. Detailed multimodal images for the posterior segment are presented. CONCLUSION: We present a new mutation with a specific substitution that may cause eye disease and which has not been described previously. There is no description of this variant in the genetic databases.

RESUMEN

Mitochondrial DNA (mtDNA) is a genetic effect DNA molecule of double closed loop, and is crucial for cells and their functions. Mitochondria take an active part in physiological activities of retinal pigment epithelium (RPE) cells. The oxidative stress is usually occurred in RPE for its active metabolism, which can lead to mitochondria and mtDNA dam?age. Once mitochondria and mtDNA lesions have not been repaired timely, the lesions can be accumulated, which can cause dysfunctions and damaged-structures of RPE and mitochondria, and can motivate the progression of cell apoptosis. In the end it can result in some ocular related diseases such as aged-related macular degeneration (AMD). This study reviewed the functional relationship between mtDNA and RPE, and repair and detection methods of mtDNA damage.

RESUMEN

In the recent years, anti-angiogenic medications have successfully treated other diseases associated with choroidal neovascularization. The anti-angiogenic therapy alone or combined with LASER and/or steroids has been effective in controlling ocular neovascularization, not only restricted to the treatment of typical membranes due to macular degeneration in the wet form. The discovery and subsequent use of these drugs has revolutionized medicine and ophthalmology. This report illustrates an example of successful treatment in a challenging pathology where it was found important visual and anatomical response after the use of ranibizumab.

Nos últimos anos, os medicamentos antiangiogênicos têm tratado com sucesso outras doenças relacionadas com a neovascularização da coroide. A terapia antiangiogênica isoladamente ou combinada com LASER e/ou esteroides têm se mostrado eficaz no controle da neovascularização ocular, não se restringindo apenas ao tratamento das membranas típicas da degeneração macular na forma úmida. A descoberta e o posterior uso destas drogas vêm revolucionando a medicina e a oftalmologia. Este relato ilustra um exemplo de tratamento de sucesso numa patologia desafiadora onde se obteve importante resposta visual e anatômica após uso do ranibizumabe.

Asunto(s)

RESUMEN

Objective To observe the characteristics of fundus autofluorescence (AF) distribution at the posterior pole in normal subjects. Methods Seventy-nine normal subjects (156 eyes) were studied.Confocal scanning laser ophthalmoscope (cSLO) HRA2 was used to obtain the AF average image at the posterior pole. The distance was calibrated by Digimizer image analysis system. With umbo as the center,the macula was divided into foveola, foves, parafovea and perifovea areas which with the radius 175, 750,1250 and 2750 μm respectively. Each area was further divided into inferior, superior, temporal and nasal quadrants by two radial lines angle of 90°, except for foveola. The AF intensity in four quadrants of different macular regions and optic disc were measured. The AF intensity in vertical and horizontal direction of umbo was also measured. Then the effects of age, eyes, and gender on AF intensity in four quadrants of different macular regions were analyzed. Results There were statistically significant differences in AF intensity among optic disc and four quadrants of macular regions (F=528. 648, P＜0.05). AF distribution was V-type in vertical direction and M-type in horizontal direction. There were statistically significant differences between age groups in foveola, inferior parafovea, temporal parafovea, inferior perifovea,superior perifovea and temporal perifovea (P＜ 0. 01). There were no statistically significant differences between the two eyes (P＞0. 05). Between genders group, there were statistically significant differences in foveola, superior foves, inferior fovea, nasal fovea and temporal perifovea (P ＜ 0.05); no statistically significant differences in the other quadrants (P＞0. 05). Conclusions The distribution of AF intensity is inhomogeneous in macular regions and four quadrants of each region in normal subjects. AF intensity increases with aging. AF distribution is symmetrical in both eyes. There is probably no correlation between gender and AF intensity distribution.

RESUMEN

Objective To observe the autofluorescence (AF) manifestation in related lesions of periphery retinopathy. Methods Sixty eyes of 42 patients with periphery retinopathy underwent the examination of Optomap fundus photograph (200°) and fundus fluorescein angiography (FFA). The HRA Ⅱ melanin-related near-infrared fundus autofluorescence (NIA, excitation 795 nm) and lipofuscin-related fundus autofluorescence (FAF, excitation 488 nm) were measured for all the patients. The AF was recorded with nine images per second, and then a final AF image with 55° view and 822 × 768 pixel was generated by the HRA. AF images can be valuable or valueless if there was or was not visible blood vessels and related retinal tissues on the image. AF from lesion regions can be normal or abnormal fluorescence comparing to the normal vascular and retinal tissue AF. The abnormal fluorescence was divided into no AF, weak AF and strong AF relative to the background grayscale. The grading consistency of abnormal fluorescence based on FAF and NIA examination was comparatively analyzed. Results Valuable AF images were captured in 53/60 eyes (88. 33%)and valueless AF images were captured in 7/60 eyes (11.67%). Among 53 eyes with valuable AF image, NIA showed normal fluorescence in 28 eyes (52. 83%), abnormal fluorescence with sheet-like, dot-shaped or stripped in 25 eyes (47.17%); FAF showed normal fluorescence in two eyes (3.77 % ), abnormal fluorescence with sheet-like, scattered along vessels or pigments in 51 eyes (96.23 % ).Twenty-five eyes with abnormal fluorescence were observed both in two examinations, including same grades in 18 eye (72.00%) and different grades in seven eyes (28.00%). Conclusion The AF manifestation with different levels exists in related lesions of periphery retinopathy.

RESUMEN

A luteína e a zeaxantina são pigmentos amarelos que se localizam na mácula. Devido à sua localização, diminuem e filtram a quantidade de luz principalmente azul que chega aos fotorreceptores, atuam como antioxidantes e podem melhorar a qualidade visual. Esta é uma revisão do seu mecanismo de incorporação, ação, possíveis aplicações e conhecimento científico a respeito.

Lutein and Zeaxanthin are yellow pigments located at the macula. Because of your location macular pigments decrease and filter the amount of blue light that reach photoreceptors, protect the outer retina from oxidative stress and may improve the vision quality. This is a review regarding incorporation mechanism, function and knowledge update.

Asunto(s)