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PURPOSE. The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10. METHODS. Patients were recruited from nine academic centers from six countries (Belgium, Canada, France, New Zealand, Switzerland, and the United States). Inclusion criteria were: (1) female or male patients with a clinical diagnosis of retinal dystrophy, (2) biallelic disease-causing variants in BBS1 or BBS10, and (3) measures of visual function for at least one visit. Retrospective data collected included genotypes, age, onset of symptoms, and best corrected visual acuity (VA). When possible, data on refractive error, fundus images and autofluorescence (FAF), optical coherence tomography (OCT), Goldmann kinetic perimetry (VF), electroretinography (ERG), and the systemic phenotype were collected. RESULTS. Sixty-seven individuals had variants in BBS1 (n = 38; 20 female patients and 18 male patients); or BBS10 (n = 29; 14 female patients and 15 male patients). Missense variants were the most common type of variants for patients with BBS1, whereas frameshift variants were most common for BBS10. When ERGs were recordable, rod-cone dystrophy (RCD) was observed in 82% (23/28) of patients with BBS1 and 73% (8/11) of patients with BBS10; cone-rod dystrophy (CORD) was seen in 18% of patients with BBS1 only, and cone dystrophy (COD) was only seen in 3 patients with BBS10 (27%). ERGs were nondetectable earlier in patients with BBS10 than in patients with BBS1. Similarly, VA and VF declined more rapidly in patients with BBS10 compared to patients with BBS1. CONCLUSIONS. Retinal degeneration appears earlier and is more severe in BBS10 cases as compared to those with BBS1 variants. The course of change of visual function appears to relate to genetic subtypes of BBS.

Aims To evaluate the timing and spectral-domain optical coherence tomography (SD-OCT) features of diabetic macular oedema (DME) recurrence according to baseline OCT patterns in patients treated with dexamethasone implant (DEX-I). Methods This is a retrospective observational study (72 eyes/65 patients). Best-corrected visual acuity, timing of DME recurrence, and SD-OCT pattern [intraretinal cysts (IRC), IRC plus subretinal fluid (mixed), external limiting membrane (ELM), ellipsoid (IS/OS) layer integrity] were assessed at baseline and monthly until first DME recurrence. Results Forty-two (58.3%) and 30 (41.6%) DME eyes had an IRC and mixed DME pattern at baseline, respectively. Twenty-four out of thirty mixed eyes (80%) relapsed without subretinal fluid. At baseline, mixed eyes showed similar changes in ELM and IS/OS (60 and 76.6% of eyes, respectively) versus IRC eyes (42.8 and 80.9% of eyes). After DME recurrence, more mixed eyes at baseline showed ELM and IS/OS changes (63.3 and 86.6%) than IRC eyes (50 and 76.2%). 33.3% of mixed eyes had DME recurrence at ≥ 6 months from first DEX-I implant versus 19% of IRC eyes. Conclusions Mixed DME eyes were treated with DEX-I relapse later and more frequently without subretinal fluid than IRC eyes. SD-OCT characteristics of different DME patterns at baseline can predict morphological features and timing of DME recurrence.

Aim To respectively evaluate macular morphological features and functional parameters by using spectral-domain optical coherence tomography (SD-OCT) and macular integrity assessment (MAIA) in patients with diabetic macular edema (DME). Methods This prospective, non-controlled, open study included 61 eyes of 38 consecutive patients with DME. All patients underwent best-corrected visual acuity (BCVA) measurement, MAIA microperimetry, and SD-OCT. DME morphology, including central retinal thickness (CRT) and central retinal volume (CRV); integrity of the external limiting membrane (ELM) and photoreceptor inner segment/outer segment (IS/OS) junction; and the deposition of hard macular exudates were assessed within a 1000-µm central subfield area. MAIA microperimetry parameters evaluated were average threshold (AT)-retinal sensitivity, macular integrity index (MI), fixation points within a circle of radius 1° (P1) and 2° (P2), and bivariate contour ellipse area considering 63% and 95% of the fixation points (A63 and A95, respectively). Results MI was significantly higher in eyes with disrupted ELM or IS/OS, compared with eyes with intact ELM and IS/OS. Values of BCVA (logMAR), total AT, AT within 1000-µm diameter, P2, A63, A95, and CRT were significantly worse in eyes with disrupted IS/OS, compared with eyes with intact IS/OS. The values of BCVA (logMAR), AT within 1000-µm diameter, and CRT were significantly worse in eyes with disrupted ELM, compared with eyes with intact ELM. These parameters were not significantly different between eyes with or without hard macular exudate deposition. CRV was not significantly different in the presence or absence of the integrity of ELM, IS/OS, or deposition of hard macular exudates. At the center, nasal and temporal sectors of the fovea, significant negative correlations were observed between retinal thickness and AT of the corresponding area. At the inferior and superior sectors of the fovea, no correlations were observed between retinal thickness and AT of the corresponding area. In the intact IS/OS group, significant negative correlations were observed between CRT and central AT. There was no correlation between retinal sensitivity and thickness when the IS/OS layer was disrupted. Multiple linear regression analyses revealed that IS/OS integrity was an independent factor affecting MI. Conclusion Functional (BCVA and visual field) and morphological parameters (retinal thickness) were significantly associated with an intact IS/OS. Local photoreceptor integrity was a strong predictor of local visual function throughout the retina. MI revealed the functional status in DME, reflecting the IS/OS juction status in the macula.

Objetive: To evaluate the association between sympathetic nervous system activity and blood pressure variability with central serous chorioretinopathy (CSC). Methods: We performed an individual, observational, and cross-sectional study involving 11 patients with CSC and 16 healthy individuals in similar age range. Participants underwent spectral power analysis of heart rate variability (HRV) at the Hypertension Department of Heart Institute at the University of São Paulo. Results: We demonstrated sympathetic activity predominance in CSC group and found that the LF (low frequency) of heart rate variability was significantly higher in this group (p = 0.04). when compared to control group. The CSC group's mean LF / HF (high frequency) ratio was higher than the control group but was not statistically significant (p = 0.2). Blood pressure variability was higher in CSC patients than in normal patients (p = 0.055), whereas heart rate variability was lower in these patients when compared to normal patients, although no statistical significance was found (p = 0.2). Spontaneous baroreflex function was significantly reduced in patients with CSC when compared to healthy individuals (p = 0.04). Conclusion: Autonomic dysfunction and a predominance of sympathetic modulation were observed in CSC patients. Resumo Objetivo: Avaliar a associação entre a atividade do sistema nervoso simpático e a variabilidade da pressão arterial com a coriorretinopatia serosa central (CSC). Métodos: Estudo individuado, observacional e transversal envolvendo 11 pacientes com CSC e 16 indivíduos saudáveis de idade semelhante. Os participantes foram submetidos à análise de poder espectral da variabilidade da freqüência cardíaca no Departamento de Hipertensão do Instituto do Coração da Universidade de São Paulo. Resultados: Observamos o predomínio da atividade simpática no grupo com CSC, evidenciado pelo LF da variabilidade da freqüência cardíaca significativamente maior neste grupo (P = 0.04) quando comparado ao grupo controle. A média da relação LF / HF e a variabilidade da pressão arterial foram maiores nos pacientes com CSC do que nos pacientes normais (P = 0,2 e P = 0,055, respectivamente), enquanto a variabilidade da freqüência cardíaca foi menor nesses pacientes quando comparados aos pacientes normais (P = 0,2), embora não tenha sido encontrada significância estatística. A função barorreflexa espontânea também foi significativamente reduzida nos pacientes com CSC quando comparados aos indivíduos saudáveis (P= 0,04). Conclusão: Concluímos que há sinais de disfunção autonômica e predomínio da modulação simpática nos pacientes com CSC.

AIMS/HYPOTHESIS: We examined the hypothesis that elevation in urinary albumin creatinine ratio (ACR) in adolescents with type 1 diabetes is associated with abnormal retinal vascular geometry (RVG) phenotypes.METHODS: A cross-sectional study at baseline of the relationship between ACR within the normoalbuminuric range and RVG in 963 adolescents aged 14.4 ± 1.6 years with type 1 diabetes (median duration 6.5 years) screened for participation in AdDIT. A validated algorithm was used to categorise log10 ACR into tertiles: upper tertile ACR was defined as 'high-risk' for future albuminuria and the lower two tertiles were deemed 'low-risk'. RVG analysis, using a semi-automated computer program, determined retinal vascular calibres (standard and extended zones) and tortuosity. RVG measures were analysed continuously and categorically (in quintiles: Q1-Q5) for associations with log10 ACR and ACR risk groups.RESULTS: Greater log10 ACR was associated with narrower vessel calibres and greater tortuosity. The high-risk group was more likely to have extended zone vessel calibres in the lowest quintile (arteriolar Q1 vs Q2-Q5: OR 1.67 [95% CI 1.17, 2.38] and venular OR 1.39 [0.98, 1.99]) and tortuosity in the highest quintile (Q5 vs Q1-Q4: arteriolar OR 2.05 [1.44, 2.92] and venular OR 2.38 [1.67, 3.40]). The effects of retinal vascular calibres and tortuosity were additive such that the participants with the narrowest and most tortuous vessels were more likely to be in the high-risk group (OR 3.32 [1.84, 5.96]). These effects were independent of duration, blood pressure, BMI and blood glucose control.CONCLUSIONS/INTERPRETATION: Higher ACR in adolescents is associated with narrower and more tortuous retinal vessels. Therefore, RVG phenotypes may serve to identify populations at high risk of diabetes complications during adolescence and well before onset of clinical diabetes complications.

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Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. Cone-rod, rod-cone, and both types of dysfunction were observed in six, one, and eight patients, respectively. Conclusion: In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis. RESUMO Objetivo: Analisar o quadro clínico, a acuidade visual e o eletrorretinograma de campo total (ERG) de 15 pacientes com o fenótipo da lipofuscinose ceróide neuronal (LCN), estabelecendo o papel do eletrorretinograma no seu diagnóstico. Métodos: Eletrorretinograma foi realizado em 5 pacientes com lipofuscinose ceróide neuronal infantil, 5 com doença de Jansky-Bielschowsky e 5 com lipofuscinose ceróide neuronal juvenil sendo feita uma análise retrospectiva dos registros médicos. Resultados: A perda progressiva da acuidade visual foi o sintoma inicial em 66,7%; isolada ou associada à ataxia, epilepsia e involução do desenvolvimento neuropsico motor. Epilepsia foi o sintoma inicial em 93,3% e 86,6% apresentaram involução do desenvolvimento neuropsicomotor. Achados fundoscópicos variaram de normal a alterações pigmentares/atróficas. Disfunção de cone-bastonete foi constatada em 6 pacientes, bastonete-cone em 1 e em 8 pacientes observou-se disfunção proporcional de ambos os sistemas. Conclusão: O eletrorretinograma foi alterado em todos os pacientes, e o achado mais frequente foi o comprometimento de cones e bastonetes. O eletrorretinograma constitui, portanto, uma ferramenta valiosa para caracterizar a disfunção visual em pacientes com o fenótipo da lipofuscinose ceróide neuronal, contribuindo para seu diagnóstico.

PURPOSE: To investigate the relationship between the Bruch membrane opening-minimum rim width (BMO-MRW) (global and temporal) parameters with spectral-domain optical coherence tomography (SD-OCT) and visual field (VF) sensitivity on the 10-2 test in patients with advanced glaucoma. MATERIALS AND METHODS: This cross-sectional, observational study included a total of 33 eyes of 29 patients. To evaluate VF sensitivity, automated white-on-white perimetry was performed using a Humphrey field analyzer. The mean deviation (MD) and pattern SD values were used to characterize the degree of functional damage. BMO-MRW and peripapillary retinal nerve fiber layer thickness were obtained with SD-OCT. According to the Garway-Heath map and fovea and BMO axis, the 90 degrees temporal sector of the optic disc corresponding to the central VF was divided into upper and lower parts. RESULTS: The upper and lower temporal BMO-MRW parameters showed stronger correlations with the MD parameters of their corresponding VFs when compared with both global and temporal MRW parameters. Global and temporal retinal nerve fiber layer thickness parameters were also correlated with global MD parameters. CONCLUSIONS: BMO-MRW measurements in the upper and lower parts of the 90 degrees temporal sector of the optic nerve head by SD-OCT and their corresponding VF sensitivity on the 10-2 test were found highly correlated. These BMO-MRW measurements could offer a means of predicting the status of visual hemifields in patients who are unable to undergo VF testing. Further longitudinal studies with larger series evaluating BMO-MRW parameters with SD-OCT are also needed to monitor progression in advanced glaucoma.

To report a case of clinical and electrophysiological recovery in Leber hereditary optic neuropathy (LHON) with G3460A Mutation. A 10-year-old boy with a three-month history of painless bilateral sequential visual loss upon presentation underwent visual acuity (diminished), anterior and posterior segment examination (normal), fluorescein angiography (normal), Goldman kinetic perimetry (bilateral central scotomata), genetic (a point G3460A mutation) and electrophysiological investigation (undetectable pattern visual evoked potentials (VEP); low amplitude, broadened and reduced flash VEPs and loss of the N95 component in the pattern electroretinograms). Diagnosis of LHON was made. Eighteen months later vision and electrophysiological tests results began spontaneously improving. Kinetic perimetry revealed reduced density and size of scotomata. Two years later, there had been further electrophysiological improvement. This report describes both clinical and electrophysiological improvement in LHON with G3460A mutation.

PURPOSE: To determine the effect of duration of macular detachment (DMD) on visual acuity (VA) in patients with macula-off rhegmatogenous retinal detachment (RD). DESIGN: Retrospective observational case series. PARTICIPANTS: Two hundred two consecutive patients (202 eyes) with primary uncomplicated macula-off RD, preoperative VA of 10/100 or worse, a precise history of when macular function was lost, successful reattachment surgery, and a minimal follow-up of 3 months. INTERVENTION: All RDs were repaired with a primary scleral buckling procedure performed by 3 vitreoretinal surgeons. MAIN OUTCOME MEASURE: Visual acuity (best corrected and 3, 6, and 12 months postoperatively). RESULTS: Considering all eyes, the cumulative mean of the best-corrected postoperative VA (logarithm of the minimum angle of resolution [logMAR]) as a function of DMD shows a rapid worsening when DMD exceeds 6 days. Eyes were divided into 3 groups, corresponding to the DMD intervals immediate (within 10 days), delayed (11 days-6 weeks), and late (>6 weeks). Mean postoperative VAs (in logMAR) were 0.35+/-0.31 (between 20/40 and 20/50 Snellen equivalent) in eyes with DMD up to 10 days, 0.48+/-0.26 (20/60 Snellen equivalent) in the delayed group, and 0.86+/-0.30 (8/60 Snellen equivalent) in eyes with DMD longer than 6 weeks. CONCLUSIONS: The cumulative mean of the best-corrected postoperative VA (logMAR) as a function of DMD shows a rapid worsening when DMD exceeds 6 days. Our results indicate that the scleral buckling procedure should be done preferably within a 7-day DMD.

In this project we are developing an instrument for measuring the wave-front aberrations of the human eye using the Hartmann-Shack sensor. A laser source is directed towards the eye and its diffuse reflection at the retina generates an approximately spherical wave-front inside the eye. This wave-front travels through the different components of the eye (vitreous humor, lens, aqueous humor, and cornea) and then leaves the eye carrying information about the aberrations caused by these components. Outside the eye there is an optical system composed of an array of microlenses and a CCD camera. The wave-front hits the microlens array and forms a pattern of spots at the CCD plane. Image processing algorithms detect the center of mass of each spot and this information is used to calculate the exact wave-front surface using least squares approximation by Zernike polynomials. We describe here the details of the first phase of this project, i. e., the construction of the first generation of prototype instruments and preliminary results for an artificial eye calibrated with different ametropias, i. e., myopia, hyperopia and astigmatism. Neste projeto estamos desenvolvendo instrumento para medidas das aberrações de frente de onda do olho humano usando um sensor Hartmann-Shack. Uma fonte de luz laser é direcionada ao olho e sua reflexão difusa na retina gera frente de onda aproximadamente esférica dentro do olho. Esta frente de onda atravessa os diferentes componentes do olho (humor vítreo, lente, humor aquoso e córnea) trazendo informações sobre as aberrações ópticas causadas por estes componentes. No meio externo ao olho existe sistema óptico formado por uma matriz de microlentes e uma câmera CCD. A frente de onda incide nesta matriz e forma um padrão aproximadamente matricial de "spots" no plano do CCD. Algoritmos de processamento de imagens são utilizados para detectar os centróides de cada "spot" e esta informação é utilizada para deduzir a forma da frente de onda usando métodos de aproximação por mínimos quadrados e polinômios de Zernike. Descrevemos aqui detalhes da primeira fase deste projeto, em que foi realizada a construção da primeira geração de instrumentos protótipos e testes preliminares em olho artificial, calibrado com diferentes ametropias, i. e., miopia, hipermetropia e astigmatismo.

Using probabilistic diffusion tractography, we examined the retinotopic organization of splenial callosal connections within early blind, anophthalmic, and control subjects. Early blind subjects experienced prenatal retinal "waves" of spontaneous activity similar to those of sighted subjects, and only lack postnatal visual experience. In anophthalmia, the eye is either absent or arrested at an early prenatal stage, depriving these subjects of both pre- and postnatal visual input. Therefore, comparing these two groups provides a way of separating the influence of pre- and postnatal retinal input on the organization of visual connections across hemispheres. We found that retinotopic mapping within the splenium was not measurably disrupted in early blind or anophthalmic subjects compared to visually normal controls. No significant differences in splenial volume were observed across groups. No significant differences in diffusivity were found between early blind subjects and sighted controls, though some differences in diffusivity were noted between anophthalmic subjects and controls. These results suggest that neither prenatal retinal activity nor postnatal visual experience plays a role in the large-scale topographic organization of visual callosal connections within the splenium.

PURPOSE: To determine the effect of duration of macular detachment (DMD) on visual acuity (VA) in patients with macula-off rhegmatogenous retinal detachment (RD). DESIGN: Retrospective observational case series. PARTICIPANTS: Two hundred two consecutive patients (202 eyes) with primary uncomplicated macula-off RD, preoperative VA of 10/100 or worse, a precise history of when macular function was lost, successful reattachment surgery, and a minimal follow-up of 3 months. INTERVENTION: All RDs were repaired with a primary scleral buckling procedure performed by 3 vitreoretinal surgeons. MAIN OUTCOME MEASURE: Visual acuity (best corrected and 3, 6, and 12 months postoperatively). RESULTS: Considering all eyes, the cumulative mean of the best-corrected postoperative VA (logarithm of the minimum angle of resolution [logMAR]) as a function of DMD shows a rapid worsening when DMD exceeds 6 days. Eyes were divided into 3 groups, corresponding to the DMD intervals immediate (within 10 days), delayed (11 days-6 weeks), and late (>6 weeks). Mean postoperative VAs (in logMAR) were 0.35+/-0.31 (between 20/40 and 20/50 Snellen equivalent) in eyes with DMD up to 10 days, 0.48+/-0.26 (20/60 Snellen equivalent) in the delayed group, and 0.86+/-0.30 (8/60 Snellen equivalent) in eyes with DMD longer than 6 weeks. CONCLUSIONS: The cumulative mean of the best-corrected postoperative VA (logMAR) as a function of DMD shows a rapid worsening when DMD exceeds 6 days. Our results indicate that the scleral buckling procedure should be done preferably within a 7-day DMD.

PURPOSE: Transscleral diode retinal photocoagulation (diopexy) is becoming an accepted technique in the treatment of selected retinal diseases. The objective of this study is to evaluate diopexy technique in the production of adhesive chorioretinal lesions during the surgical treatment of the rhegmatogenous retinal detachment. METHODS: 25 patients with rhegmatogenous retinal detachment were enrolled in a prospective clinical-surgical study to evaluate the technique of transscleral diode laser photocoagulation to obtain adhesive chorioretinal lesions during retinal reattachment surgery. The surgery consisted of the placement of an exoplant silicon to produce a buckle effect combined with a drainage of subretinal fluid in most cases. RESULTS: By a mean follow-up of 10 months, 21 of 25 eyes had their retinas reattached after only one surgery with diopexy used in all cases. CONCLUSION: Transscleral diode laser photocoagulation was a technically easy, controlled, effective, reproducible and safe means of obtaining chorioretinal adhesion in retinal reattachment surgery. OBJETIVO: Fotocoagulação transescleral com laser de diodo (diopexia) está se tornando técnica utilizada no tratamento de algumas doenças retinianas. O objetivo deste estudo é avaliar a técnica de diopexia na produção de lesões coriorretinianas aderentes durante o tratamento cirúrgico do descolamento de retina regmatogênico. MÉTODOS: Vinte e cinco pacientes com descolamento de retina regmatogênico participaram deste estudo clínico-cirúrgico prospectivo para avaliar a técnica de fotocoagulação com laser de diodo transescleral para obter lesões coriorretinianas aderentes durante a cirurgia de descolamento de retina. A cirurgia consistiu de colocação de explante de silicone para produzir efeito de introflexão escleral combinado com drenagem do líquido subretiniano na maioria dos casos. RESULTADOS: Após um período médio de seguimento de 10 meses, em 21 dos 25 olhos houve reaplicação da retina após um único procedimento cirúrgico com diopexia aplicada em todos os casos. CONCLUSÃO: Fotocoagulação com laser de diodo transescleral foi uma forma tecnicamente fácil, controlada, efetiva, reprodutível e segura na obtenção de adesão coriorretiniana na cirurgia de descolamento de retina.