Visual acuity and retinal function in patients with Bardet-Biedl syndrome

OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl syndrome phenotype. METHODS: The visual acuity of a group of 23 patients (15 males) with ages ranging from 6-36 years (mean = 15.8±6.4; median = 14.7) was assessed. Retinal function was evaluated by full-field electroretinography, and dark-adapted thresholds were assessed. RESULTS: Visual acuity in the better-seeing eye was 20/40 or better in 5 patients (21.7 percent), 20/50-20/150 in 13 (56.5 percent) patients, 20/200-20/400 in 2 (8.7 percent) patients and worse than 20/400 in one (4.3 percent) patient. The mean acuity in the better-seeing eye was 0.7±0.6 logMAR (20/100, Snellen equivalent). Scotopic rod and maximal responses were nondetectable in 21 (91.3 percent) patients, and cone responses were non-detectable in 15 (65.2 percent) patients. Elevated darkadapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6 percent) patients having thresholds greater than 30 dB. CONCLUSIONS: In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21 percent had 20/40 or better vision. ERG scotopic responses were absent in the majority of cases, with cone responses being observed in less than half of cases. These findings showed the early deleterious effects in retinal function and visual acuity caused by this condition.

Adaptações fisiológicas e anatômicas de melissa officinalis L. (Lamiaceae) cultivadas sob malhas termorrefletoras em diferentes intensidades luminosas / Physiological and morphological adaptations of melissa officinalis L. (Lamiaceae) cultivated under thermo-reflector shading nets at different luminous intensities

Objetivou-se, com a realização da pesquisa, avaliar modificações fisiológicas e anatômicas em plantas de melissa, cultivadas sob malhas termorrefletoras (Aluminet®), em diferentes níveis de sombreamento, visando conhecer a plasticidade fenotípica em resposta de adaptação a diferentes quantidades de luz. Os tratamentos foram caracterizados por plantas submetidas a pleno sol e a 20 e 60 por cento de intensidade luminosa, e arranjados conforme o delineamento inteiramente casualizado (DIC). As quantificações de clorofila foram feitas em quatro repetições, as medições das epidermes e parênquimas foram repetidas 15 vezes e utilizou-se 10 repetições para as avaliações das características de cloroplastos e grãos de amido destes. Plantas submetidas a 20 por cento de intensidade luminosa apresentaram maior quantidade de clorofila a e, portanto, maior razão clorofila a/b. Comparativamente, as folhas de melissa a pleno sol e a 60 por cento de luz apresentaram células da epiderme adaxial mais espessas, mas as células da epiderme abaxial mostraram características encontradas em folhas de sombra, ou seja, mais finas. Quanto maior a intensidade luminosa, maior o número de cloroplastos, porém, a pleno sol mostraram-se mais finos e com menor área. Os grãos de amido de plantas cultivadas sob ambientes sombreados tiveram maior área e ocuparam maior parte nos cloroplastos de plantas a 60 por cento de intensidade luminosa. Assim, plantas de melissa, quando submetidas ao sombreamento, tiveram plasticidade fenotípica.

The aim of this study was to evaluate physiological and anatomical modifications in lemon balm plants, cultivated under thermo-reflector nets (Aluminet®) at different levels of shading, in order to understand the phenotypic plasticity in adaptation response to different light quantities. The treatments were characterized by plants subjected to full sun and 20 and 60 percent of luminous intensity, and arranged in completely randomized design (CRD). The quantifications of chlorophylls were done in four replicates, the measurements of epidermis and parenchymas were repeated 15 times and 10 replicates were used to evaluate characteristics of chloroplasts and their starch grains. Plants subjected to 20 percent of luminous intensity showed higher quantity of chlorophyll a and, therefore, higher chlorophyll a/b ratio. Lemon balm leaves under full sun and 60 percent of light showed thicker adaxial epidermis cells, but the abaxial epidermis cells showed characteristics found in shaded leaves, i.e., they were slender. The higher the light intensity, the larger the number of chloroplasts; however, under full sun, they were slender and had smaller area. The starch grains of leaves grown under shaded environments showed larger area and, at 60 percent of luminous intensity, occupied the largest part of chloroplasts. Thus, lemon balm plants, subjected to shading conditions, showed phenotypic plasticity.

New comparative ultrasound biomicroscopic findings between fellow eyes of acute angle closure and glaucomatous eyes with narrow angle / Novos achados comparativos de biomicroscopia ultra-sônica entre olhos contralaterais com fechamento angular agudo e olhos glaucomatosos com ângulo estreito

PURPOSE: To compare morphometric features between fellow acute primary angle-closure (APAC) eyes and glaucomatous or suspect eyes with narrow angle (NA). METHODS: Fellow eyes of 30 patients with unilateral APAC and 30 with NA were evaluated by ultrasound biomicroscopy (UBM) under light and dark conditions. UBM parameters such as anterior chamber depth (ACD), angle opening distance at 250 µm/500 µm from the scleral spur (AOD250/AOD500), trabecular ciliary process distance (TCPD) and iris-lens contact distance (ILCD) were measured in the superior (SQ) and inferior (IQ) quadrants. RESULTS: Significant differences between APAC fellow and NA eyes were found in ACD, P<0.001; AOD250 at SQ and IQ, P<0.001; AOD500 at SQ and IQ, P<0.001; TCPD light, P=0.010 and TCPD dark at SQ, P=0.031; and TCPD light at IQ, P=0.010. Significant differences between light and dark examinations of APAC fellow eyes were found in ILCD (P=0.009) at SQ and ILCD at IQ (P=0.006), and of NA eyes in ILCD at SQ (P=0.047) and ILCD at IQ (P<0.001). CONCLUSIONS: APAC fellow eyes have a more crowded anterior segment and shallower ACD than NA eyes. ILCD decreases in both groups when the illumination conditions change from light to dark.

OBJETIVO: Comparar características morfométricas entre olhos contralaterais com fechamento angular primário agudo (FAPA) e olhos glaucomatosos ou suspeitos com ângulo estreito (AE). MÉTODOS: Olhos contralaterais de 30 pacientes com FAPA unilateral e olhos de 30 pacientes com AE foram avaliados através da biomicroscopia ultra-sônica (BUS) no claro e escuro. Parâmetros da BUS como a profundidade central de câmara anterior (PCA), distância da abertura angular a 250 µm/500 µm do esporão escleral (AOD250/AOD500), distância entre o processo ciliar e o trabeculado (TCPD) e distância do contato iris-cristalino (ILCD) foram medidos nos quadrantes superior (QS) e inferior (QI). RESULTADOS: Diferenças significativas entre olhos contralaterais de FAPA e olhos com AE foram encontradas na PCA, p<0,001; AOD250 no QS e QI, p<0,001; AOD500 no QS e QI, p<0,001; TCPD no claro, p=0,010 e TCPD no escuro no QS, p=0,031; e TCPD no claro no QI, p=0,010. Diferenças significativas entre exames no claro e escuro realizados em olhos contralaterais com FAPA foram encontradas na ILCD (p=0,009) no QS e ILCD no QI (p=0,006), e em olhos com SE na ILCD no QS (p=0,047) e ILCD no QI (p<0,001). CONCLUSÕES: Olhos contralaterais de FAPA apresentam um segmento anterior mais aglomerado e uma PCA menor que olhos com AE. ILCD diminui em ambos os grupos quando as condições de iluminação mudam do claro para o escuro.

The determination of dark adaptation time using electroretinography in conscious Miniature Schnauzer dogs

The optimal dark adaptation time of electroretinograms (ERG's) performed on conscious dogs were determined using a commercially available ERG unit with a contact lens electrode and a built-in light source (LED-electrode). The ERG recordings were performed on nine healthy Miniature Schnauzer dogs. The bilateral ERG's at seven different dark adaptation times at an intensity of 2.5 cd.s/m2 was performed. Signal averaging (4 flashes of light stimuli) was adopted to reduce electrophysiologic noise. As the dark adaptation time increased, a significant increase in the mean a-wave amplitudes was observed in comparison to base-line levels up to 10 min (p > 0.05). Thereafter, no significant differences in amplitude occured over the dark adaptation time. Moreover, at this time the mean amplitude was 60.30 +/- 18.47 microV. However, no significant changes were observed for the implicit times of the a-wave. The implicit times and amplitude of the b-wave increased significantly up to 20 min of dark adaptation (p > 0.05). Beyond this time, the mean b-wave amplitudes was 132.92 +/- 17.79 microV. The results of the present study demonstrate that, the optimal dark adaptation time when performing ERG's, should be at least 20 min in conscious Miniature Schnauzer dogs.

Wheel-running and rest activity pattern interaction in two octodontids (Octodon degus, Octodon bridgesi)

Wheel-running and other non-photic stimuli influence the rest-activity pattern of diurnal and nocturnal mammals. A day to night inversion of phase preference of activity was described among Octodon degus, when exposed to ad-libitum wheel running. We have studied the rest-activity pattern response in presence of ad libitum wheel-running in wild-captured male individuals from two species of genus Octodon: O. degus (n=9, crepuscular-diurnal) and O. bridgesi (n=3, nocturnal). After two months of habituation to laboratory conditions, recordings were performed in isolation chambers under a 12:12 light-dark schedule with or without access to a running wheel. Actograms were constructed from data obtained by an automated acquisition system. O. bridgesi were also recorded under constant darkness, with or without access to wheel-running. Entrained to the light-dark schedule, a crepuscular pattern of activity was evident for O. degus, whereas O. bridgesi displayed a robust nocturnal chronotype. The activity of O. degus observed during the dark phase was enhanced when wheel-running was allowed. No significant change in phase preference was observed for O. bridgesi when wheel-running was allowed. A lengthening of endogenous period was observed in O. bridgesi after wheel-running exposure under constant darkness. Nocturnal and diurnal octodontids exhibit different masking responses to wheel-running.

Study of Blue and Red Flash in Dark-Adapted Electroretinogram

PURPOSE: To investigate the characteristics of the waveform generated by blue and red light stimulations in a dark-adapted electroretinogram (ERG) and those of cone responses in the dark-adapted condition. METHODS: The study subjects were 52 persons (88 eyes) with no previous medical history. The author recorded b-waves (rod response) with red light stimulation and the x-waves (dark-adapted cone response) that appeared before the b-waves. The author also recorded b-waves with blue light stimulation, which had the same amplitude as the b-waves from the red light stimulation. The differences with respect to age and gender were studied. Waveforms of the dark-adapted cone ERGs were recorded by using a digital subtraction technique. RESULTS: The x-wave always appeared before the b-wave with 0 dB (2.4 cd.s/m2) red stimulation. With blue stimulation, a b-wave equivalent to the b-wave stimulated with the red light of 0 dB intensity appeared at an average of -14.57 dB. The implicit time for the b-wave was delayed significantly for the male group. There were no significant differences between different age groups. The dark-adapted cone ERG demonstrated the waveform of a negative response followed by a series of oscillatory potentials (OPs) and a positive response. CONCLUSIONS: The cone responses were followed by the rod responses with red light stimulation of 0 dB in the dark-adapted ERG. The waveforms of the cone ERGs were obtained in dark adaptation with red and blue light stimulation.

Influência da idade e da adaptação precoce ao claro, na normatização do eletrorretinograma de campo total em sujeitos normais / Influence of age and the precocious light adaptation, in the standardization of the full-field electroretinogram in normal subjects

Estudar a influência da idade, da adaptação precoce ao claro na fase fotópica e comparar se há diferença entre os olhos e entre os sexos nas diferentes etapas do eletrorretinograma (ERG) padronizado por faixa etária. Tese apresentada ao Setor de Ciências da Saúde da Universidade Federal do Paraná, como parte dos requisitos para obtenção de grau de Mestre em Clínica Cirúrgica. Foram avaliados 40 pacientes com exame oftalmológico normal, separados por sexo e estratificados por faixa etária de 8-65 anos (intervalo de 20 anos). A fim de se proceder à normatização do ERG, utilizou-se o sistema EPIC 2000 (LKC), com modificação do protocolo padrão recomendado pelo ISCEV (International Society for Clinical Electrophysiology of Vision). Os olhos foram adaptados ao claro por 1 minuto ao invés de 10 minutos que é o preconizado pelo ISCEV. Houve grande correlação entre os olhos (r= 0,92 para a amplitude e r= 0,89 para o tempo de culminação) e diferenças significativas a 5por cento no teste t nas seguintes respostas do ERG, separados por faixa etária: 1) diminuição da ampluitude da onda escotópica b, onda a e b (resposta máxima) com a idade; 2) aumento do tempo de culminação (ms) da onda b (resposta máxima), fotópico b e flicker até os 60 anos. Houve diminuição da amplitude e o tempo de culminação foi similar ao de pacientes adaptados ao claro por dez minutos. Não houve diferenças significativas na análise de variância (ANOVA) em quaisquer respostas, sem separação for faixas etárias e na média entre os sexos. No presente trabalho foi demonstrado que sexo e idade do paciente têm influência sobre o ERG, estas variáveis devem ser consideradas para a normatização do ERG, para comparação com pacientes anormais. A adaptação precoce ao claro por 1 minuto tem vantagens em relação aos 10 minutos, por encurtar e facilitar a realização do exame em pacientes com fotofobia e em crianças sob sedação.

Pupil size following dark adaptation in patients with retinitis pigmentosa

According to the equivalent light hypothesis, molecular defects in the photoreceptor lead to a continuous activation of the photoreceptor cascade in a manner equivalent to real light. The consequences in diseases such as retinitis pigmentosa (RP) are as disruptive to the cells as real light. Two forms of the equivalent light hypothesis can be distinguished: strong - mutations in rhodopsin or other cascade proteins in some forms of RP continuously excite the visual phototransduction cascade; weak - disruption of outer segments in all patients with RP eliminates circulating dark current and blocks neurotransmitter release in a manner similar to real light. Both forms of the equivalent light hypothesis predict that pupils of patients with RP will be constricted like those of normal subjects in the light. The purpose of this study was to test the equivalent light hypothesis by determining whether steady-state pupil diameter following full dark adaptation is abnormally small in any of a sample of patients with RP. Thirty-five patients with RP and 15 normal subjects were tested. Direct steady-state pupillometric measures were obtained from one eye in a full-field dome after 45 min of dark adaptation by videotaping the pupil with an infrared camera. Mean pupil diameter in the dark was comparable (t = -0.15, P = 0.88) between patients with RP (6.85 Ý 0.58 mm) and normal subjects (6.82 Ý 0.76 mm). The results of the present study are clearly counter to the prediction of the second (weaker) form of the equivalent light hypothesis