Occurrence of area postrema syndrome during follow-up: phenotype and influence over NMOSD activity in LATAM in real-world settings.

INTRODUCTION: We aimed to assess the frequency, duration, and severity of area postrema syndrome (APS) during follow-up in neuromyelitis optica spectrum disorder (NMOSD) patients, as well as its association with inflammatory activity and prognostic factors of APS severity in a real-world setting. METHODS: We conducted a retrospective study on a cohort of Latin American (LATAM) NMOSD patients who had experienced APS during their follow-up. Patients from Mexico, Peru, Brazil, Colombia, Panama, Chile and Argentina patients who met 2015 NMOSD criteria were included. We evaluated data on symptom type (nausea, vomiting and/or hiccups), frequency, duration, severity (measured by APS severity scale), association with other NMOSD core relapses, and acute treatments (symptomatic and immunotherapy or plasmapheresis). Logistic regression was conducted to evaluate factors associated with APS severity (vs. mild-moderate). RESULTS: Out of 631 NMOSD patients, 116 (18.3%) developed APS during their follow-up. The most common APS phenotype was severe. Inflammatory activity (i.e., relapses) significantly decreased after the onset of APS. Half of the patients experienced isolated APS with a median duration of 10 days, and the most frequently used acute treatment was IV steroids. All three symptoms were present in 44.6% of the patients. APS symptoms resolved following immunotherapy. Logistic regression did not identify independent factors associated with the severity of APS. CONCLUSIONS: Our findings indicate that 18.3% of NMOSD patients developed APS during the follow-up period, with most patients fulfilling criteria for severe APS. The inflammatory activity decreased after the onset of APS compared to the previous year.

Clinical spectrum of myelin oligodendrocyte glycoprotein antibody-associated disease in Brazil: a single-center experience.

BACKGROUND: Anti-myelin oligodendrocyte glycoprotein (anti-MOG) antibody-associated disease (MOGAD) is an immune-mediated neurological disorder with a broad spectrum of clinical presentation that is often difficult to distinguish from other demyelinating diseases, such as multiple sclerosis and neuromyelitis optica spectrum disorder. OBJECTIVE: To describe the clinical and paraclinical characteristics of MOGAD in a Brazilian tertiary center. METHODS: We retrospectively reviewed the records of adult and pediatric patients who tested positive for anti-MOG antibodies and presented with clinical and radiological diseases compatible with MOGAD. RESULTS: Forty-one patients (10 children) were included: 56% female, 58% Caucasian, mean age at onset 31 years (range 6-64), with a mean disease duration of 59.6 months (range 1-264 months). The most frequent onset presentation was optic neuritis (68%), acute disseminated encephalomyelitis (ADEM, 12%), and myelitis (10%). A monophasic disease course was observed in 49%. EDSS median was 2.1 at the last visit. Most patients (83%) were under continuous immunosuppressive treatment. Azathioprine was the first-line treatment in 59%. In all ADEM cases, conus, and root involvement was radiologically observed on MRI. CONCLUSION: Brazilian MOGAD patients presented with a similar spectrum of previously reported MOGAD phenotypes. Conus and spinal root involvement seems to be frequently present in MOGAD-ADEM and could serve as radiologic characteristics of this clinical entity.

ANTECEDENTES: A doença associada ao anticorpo da glicoproteína da mielina de oligodendrócitos (anti-MOG; MOGAD) é uma doença neurológica imunomediada com um amplo espectro de apresentações clínicas que muitas vezes é difícil de distinguir de outras doenças desmielinizantes, como a esclerose múltipla e o distúrbio do espectro da neuromielite óptica. OBJETIVO: Descrever as características clínicas e paraclínicas da MOGAD em um centro terciário brasileiro. MéTODOS: Revisamos retrospectivamente os prontuários dos pacientes adultos e pediátricos que testaram positivos para anticorpos anti-MOG e apresentaram um quadro clínico e radiológico compatível com MOGAD. RESULTADOS: Quarenta e um pacientes (10 crianças) foram incluídos: 56% do sexo feminino, 58% caucasianos, idade média de início da doença foi 31 anos (intervalo de 6-64), com duração média da doença de 59,6 meses (intervalo de 1-264 meses). A apresentação inicial mais frequente foi neurite óptica (68%), seguida pela encefalomielite disseminada aguda (ADEM, 12%) e mielite (10%). Um curso monofásico da doença foi observado em 49%. EDSS foi de 2,1 na última visita. A maioria dos pacientes (83%) estava sob tratamento imunossupressor contínuo. Azatioprina foi o tratamento de primeira linha em 59%. Em todos os casos de ADEM, o envolvimento do cone medular e das raízes espinhais foi observado radiologicamente na ressonância magnética. CONCLUSãO: Os pacientes brasileiros com MOGAD apresentam um espectro clínico e radiológico semelhante aos fenótipos de MOGAD relatados anteriormente. O envolvimento do cone e das raízes espinhais parece estar frequentemente presente no MOGAD-ADEM e poderia servir como característica radiológica nesta entidade.

Clinical spectrum of myelin oligodendrocyte glycoprotein antibody-associated disease in Brazil: a single-center experience / Espectro clínico de doença associada com anticorpos contra a glicoproteína de oligodendrócito de mielina no Brasil: uma experiencia de centro único

Abstract Background Anti-myelin oligodendrocyte glycoprotein (anti-MOG) antibody-associated disease (MOGAD) is an immune-mediated neurological disorder with a broad spectrum of clinical presentation that is often difficult to distinguish from other demyelinating diseases, such as multiple sclerosis and neuromyelitis optica spectrum disorder. Objective To describe the clinical and paraclinical characteristics of MOGAD in a Brazilian tertiary center. Methods We retrospectively reviewed the records of adult and pediatric patients who tested positive for anti-MOG antibodies and presented with clinical and radiological diseases compatible with MOGAD. Results Forty-one patients (10 children) were included: 56% female, 58% Caucasian, mean age at onset 31 years (range 6-64), with a mean disease duration of 59.6 months (range 1-264 months). The most frequent onset presentation was optic neuritis (68%), acute disseminated encephalomyelitis (ADEM, 12%), and myelitis (10%). A monophasic disease course was observed in 49%. EDSS median was 2.1 at the last visit. Most patients (83%) were under continuous immunosuppressive treatment. Azathioprine was the first-line treatment in 59%. In all ADEM cases, conus, and root involvement was radiologically observed on MRI. Conclusion Brazilian MOGAD patients presented with a similar spectrum of previously reported MOGAD phenotypes. Conus and spinal root involvement seems to be frequently present in MOGAD-ADEM and could serve as radiologic characteristics of this clinical entity.

Resumo Antecedentes A doença associada ao anticorpo da glicoproteína da mielina de oligodendrócitos (anti-MOG; MOGAD) é uma doença neurológica imunomediada com um amplo espectro de apresentações clínicas que muitas vezes é difícil de distinguir de outras doenças desmielinizantes, como a esclerose múltipla e o distúrbio do espectro da neuromielite óptica. Objetivo Descrever as características clínicas e paraclínicas da MOGAD em um centro terciário brasileiro. Métodos Revisamos retrospectivamente os prontuários dos pacientes adultos e pediátricos que testaram positivos para anticorpos anti-MOG e apresentaram um quadro clínico e radiológico compatível com MOGAD. Resultados Quarenta e um pacientes (10 crianças) foram incluídos: 56% do sexo feminino, 58% caucasianos, idade média de início da doença foi 31 anos (intervalo de 6-64), com duração média da doença de 59,6 meses (intervalo de 1-264 meses). A apresentação inicial mais frequente foi neurite óptica (68%), seguida pela encefalomielite disseminada aguda (ADEM, 12%) e mielite (10%). Um curso monofásico da doença foi observado em 49%. EDSS foi de 2,1 na última visita. A maioria dos pacientes (83%) estava sob tratamento imunossupressor contínuo. Azatioprina foi o tratamento de primeira linha em 59%. Em todos os casos de ADEM, o envolvimento do cone medular e das raízes espinhais foi observado radiologicamente na ressonância magnética. Conclusão Os pacientes brasileiros com MOGAD apresentam um espectro clínico e radiológico semelhante aos fenótipos de MOGAD relatados anteriormente. O envolvimento do cone e das raízes espinhais parece estar frequentemente presente no MOGAD-ADEM e poderia servir como característica radiológica nesta entidade.

Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome.

Congenital opticmeningoceles was the term coined to describe large pseudocystic lesions of the intraorbital segment of the optic nerve. This extremely rare congenital anomaly was reported unilaterally only in nonsyndromic patients with fully developed eyes. The authors describe here a 10-month-old girl with a previous diagnosis of Joubert syndrome who presented with the same type of optic nerve malformation in OU. Molecular genetic analysis disclosed a pathogenic variant of the TMEM67 gene which is associated with various types of ciliopathies.

Myelin oligodendrocyte glycoprotein antibody-associated optic neuritis: an update / Neurite óptica associada com anticorpo contra a glicoproteína oligondendrócita da mielina: uma breve atualização

ABSTRACT Myelin oligodendrocyte glycoprotein-immunoglobulin G (IgG)-associated optic neuritis has been established as a new entity of immune-mediated optic neuropathy. Patients usually present with recurrent optic neuritis, often bilaterally with initially severe vision loss and optic disc edema. However, in contrast to aquaporin 4-IgG-seropositive neuromyelitis optica spectrum disorder, visual recovery tends to be more favorable, with good response to steroid treatment. Another important differential diagnosis of myelin oligodendrocyte glycoprotein-IgG--associated optic neuritis is multiple sclerosis. Close monitoring for signs of relapse and long-term immunosuppression may be considered to maintain optimal visual function. The diagnosis can be made on the basis of the presence of a specific, usually serological, antibody against myelin oligodendrocyte glycoprotein (IgG; cell-based assay), and a demyelinating event (optic neuritis, myelitis, brainstem syndrome, or cortical lesions with seizures). The clinical spectrum of this newly recognized inflammatory demyelinating disease is expanding rapidly. We briefly review the epidemiological characteristics, clinical manifestations, diagnostic considerations, and treatment options of myelin oligodendrocyte glycoprotein-IgG-associated optic neuritis.

RESUMO A neurite óptica associada à glicoproteína de oligodendrócito de mielina-IgG foi estabelecida como uma nova entidade de neuropatia óptica imunomediada. Tipicamente os pacientes apresentam neurite óptica recorrente, muitas vezes bilateral, com perda de visão frequentemente severa e alta prevalência de edema do disco óptico na fase aguda. No entanto, em contraste com neuromyelitis optica spectrum disorder associada com presença de anticorpo contra aquaporina 4, a recuperação visual tende a ser mais favorável e responde bem ao tratamento com corticoide em altas doses. A esclerose múltipla representa outro importante diagnóstico diferencial de glicoproteína de oligodendrócito de mielina-IgG. O diagnóstico pode ser feito com base na presença de um anticorpo específico, geralmente sorológico contra glicoproteína de oligodendrócito de mielina (IgG, ensaio baseado em células), e presença de evento desmielinizante (neurite óptica, mielite, síndrome do tronco cerebral, lesões corticais com convulsões). O espectro clínico desta doença desmielinizante inflamatória recém-reconhecida está se expandindo rapidamente. Faremos uma breve revisão das características epidemiológicas, manifestações clínicas, considerações diagnósticas e opções de tratamento da neurite óptica associada à glicoproteína de oligodendrócito de mielina-IgG.

Myelin oligodendrocyte glycoprotein antibody-associated optic neuritis: an update.

Myelin oligodendrocyte glycoprotein-immunoglobulin G (IgG)-associated optic neuritis has been established as a new entity of immune-mediated optic neuropathy. Patients usually present with recurrent optic neuritis, often bilaterally with initially severe vision loss and optic disc edema. However, in contrast to aquaporin 4-IgG-seropositive neuromyelitis optica spectrum disorder, visual recovery tends to be more favorable, with good response to steroid treatment. Another important differential diagnosis of myelin oligodendrocyte glycoprotein-IgG--associated optic neuritis is multiple sclerosis. Close monitoring for signs of relapse and long-term immunosuppression may be considered to maintain optimal visual function. The diagnosis can be made on the basis of the presence of a specific, usually serological, antibody against myelin oligodendrocyte glycoprotein (IgG; cell-based assay), and a demyelinating event (optic neuritis, myelitis, brainstem syndrome, or cortical lesions with seizures). The clinical spectrum of this newly recognized inflammatory demyelinating disease is expanding rapidly. We briefly review the epidemiological characteristics, clinical manifestations, diagnostic considerations, and treatment options of myelin oligodendrocyte glycoprotein-IgG-associated optic neuritis.

Proliferative diabetic retinopathy treated with intravitreal ranibizumab and photocoagulation directed at ischemic retinal areas-A randomized study.

PURPOSE: To compare ETDRS panretinal laser photocoagulation (PRP) combined with intravitreal injection of ranibizumab (IVR) and photocoagulation targeted to ischemic retina (PIR) combined with IVR in patients with proliferative diabetic retinopathy (PDR). METHODS: PDR patients were randomly assigned to treatment with either PRP + IVR or PIR + IVR. ETRDS Best-corrected visual acuity (BCVA) and central subfield thickness (CSFT) measured on optic-coherence tomography images (OCT-Heidelberg Spectralis) were recorded at baseline and every 4 weeks for one year. Fluorescein leakage area (FLA) from active new vessels was measured every 12 weeks. Full-field ERG was recorded by means of DTL electrodes, following ISCEV standard recommendations, at baseline and after 3 months. RESULTS: Twenty-eight eyes completed the study period. At baseline, mean ± SE BCVA (logMAR) was 0.44 ± 0.07 and 0.37 ± 0.08 (P = 0.5030); CSFT (µm) was 324.0 ± 20.4 and 330.1 ± 22.1 (P = 0.8417); and FLA (mm2) was 16.10 ± 4.42 and 9.97 ± 1.83 (P = 0.2114) for PRP + IVR and PIR + IVR groups, respectively. There were no relevant changes on BCVA or CSFT, but a significant reduction for FLA was observed at all visits compared to baseline for both groups, with no differences between groups. ERG showed at baseline reduced dark-adapted amplitudes, and these changes were also significantly amplified after laser treatment. ROD b-wave amplitude was further reduced in 62 ± 6% for PRP + IVR and 59 ± 4% for group PIR + IVR, but with no between-groups significant difference (P = 0.9082). CONCLUSIONS: PIR + IVR or PRP + IVR are comparable strategies regarding FLA control in PDR and led to similar retinal function impairment, based on ERG changes up to one-year follow-up. TRIAL REGISTRATION NUMBER: NCT03904056, date of registration 02/11/2019, retrospectively registered.

ETDRS panretinal photocoagulation combined with intravitreal ranibizumab versus PASCAL panretinal photocoagulation with intravitreal ranibizumab versus intravitreal ranibizumab alone for the treatment of proliferative diabetic retinopathy / Panfotocoagulação retiniana a laser padrão ETDRS associado a injeção intravítrea de ranibizumabe versus panfotocoagulação retiniana a laser padrão PASCAL associado a injeção intravítrea de ranibizumabe versus somente injeção intravítrea de ranibizumabe para o tratamento da retinopatia diabética proliferativa

ABSTRACT Purpose: To compare visual acuity, macular thickness, and the area of active neovascularization based on fluorescein angiography outcomes associated with standard single-spot panretinal photocoagulation in the Early Treatment Diabetic Retinopathy Study (ETDRS) pattern combined with intravitreal ranibizumab injection versus multiple-spot full scatter (PASCAL) panretinal photocoagulation combined with intravitreal ranibizumab injection versus intravitreal injection alone in patients with proliferative diabetic retinopathy. Methods: Patients with proliferative diabetic retinopathy and no prior laser treatment were randomly assigned to receive three different types of treatment. Panretinal photocoagulation in the ETDRS group was administered in two sessions (weeks 0 and 2), and panretinal photocoagulation in the PASCAL group was administered in one session (week 0). Intravitreal injection of ranibizumab was administered at the end of the first laser session in both the ETDRS and PASCAL groups and at week 0 in the intravitreal injection group. Comprehensive ophthalmic evaluations were performed at baseline and every 4 weeks through week 48. Results: Thirty patients (n=40 eyes) completed the 48-week study period. After treatment, best-corrected visual acuity was significantly (p<0.05) improved at all follow-up visits in the group receiving intravitreal injection alone, at all but week 4 in the ETDRS group, and at all but weeks 4 and 8 for the PASCAL group. A significant decrease in central subfield macular thickness was observed in the PASCAL group at weeks 4, 8, and 48; only at week 48 in the intravitreal injection group; and never in the ETDRS group. There was no significant difference among the three treatment groups with respect to change from baseline to week 48 in best-corrected visual acuity, central subfield macular thickness, or fluorescein leakage from active neovascularization in best-corrected visual acuity, central subfield macular thickness, or fluorescein leakage from active neovascularization. Conclusions: Intravitreal injection alone or combined with single- or multiple-spot panretinal photocoagulation yielded similar outcomes with respect to mean change in best-corrected visual acuity, central subfield macular thickness, and fluorescein leakage from active neovascularization at up to one-year of follow-up. All subjects provided written informed consent to participate (NCT02005432 in clinicaltrials.gov).

RESUMO Objetivo: Comparar as medidas de acuidade visual, espessura macular central e área de neovasos ativos na an­giofluoresceinografia submetidos a panfotocoagulação retiniana padrão ETDRS associado a injeção intravítrea de ranibizumabe versus panfotocoagulação padrão PASCAL associado a injeção intravítrea de ranibizumabe versus somente injeção intravítrea de ranibizumabe em pacientes com retinopatia diabética pro­liferativa. Métodos: Pacientes com retinopatia diabética proliferativa e virgens de tratamento, randomicamente divididos nas três diferentes terapias retinianas. Panfotocoagulação no grupo ETDRS em 2 sessões (semanas 0 e 2) e no grupo PASCAL, na semana 0. Injeção intravítrea de ranibizumabe realizado ao fim da primeira sessão de laser em ambos os grupos: ETDRS e PASCAL, e na semana 0 no grupo injeção intravítrea de ranibizumabe. Avaliações oftalmológicas, tomografia de coerência óptica e angiofluoesceinografia realizados na visita basal e a cada 4 semanas por 48 semanas. Resultados: Trinta pacientes (n=40 olhos) completaram as 48 semanas de seguimento. Após o tratamento, a acuidade visual melhorou significantemente em todas a visitas no grupo injeção intravítrea de ranibizumabe (p<0,05); em todas exceto na semana 4 no grupo ETDRS, em todas exceto nas semanas 4 e 8 no grupo PASCAL. Redução significativa na espessura do subcampo central foi evidenciada no grupo PASCAL nas semanas 4, 8 e 48; somente na semana 48 no grupo injeção intravítrea de ranibizumabe, e em nenhuma visita no grupo ETDRS. Redução também na área de neovasos ativos em todas as visitas em todos os grupos. Não houve diferença significante entre os três grupos com relação a mudança media na medidas de acuidade visual, espessura macular central ou área de neovasos ativos da visita inicial para a semana 48. Conclusões: Somente IVB ou este associado a panfotocoagulação ETDRS ou PASCAL, apresentaram efeitos semelhantes em relação a medidas de acuidade visual, espessura do subcampo central e área de neovasos ativos no decorrer de 48 semanas de seguimento.

ETDRS panretinal photocoagulation combined with intravitreal ranibizumab versus PASCAL panretinal photocoagulation with intravitreal ranibizumab versus intravitreal ranibizumab alone for the treatment of proliferative diabetic retinopathy.

PURPOSE: To compare visual acuity, macular thickness, and the area of active neovascularization based on fluorescein angiography outcomes associated with standard single-spot panretinal photocoagulation in the Early Treatment Diabetic Retinopathy Study (ETDRS) pattern combined with intravitreal ranibizumab injection versus multiple-spot full scatter (PASCAL) panretinal photocoagulation combined with intravitreal ranibizumab injection versus intravitreal injection alone in patients with proliferative diabetic retinopathy. METHODS: Patients with proliferative diabetic retinopathy and no prior laser treatment were randomly assigned to receive three different types of treatment. Panretinal photocoagulation in the ETDRS group was administered in two sessions (weeks 0 and 2), and panretinal photocoagulation in the PASCAL group was administered in one session (week 0). Intravitreal injection of ranibizumab was administered at the end of the first laser session in both the ETDRS and PASCAL groups and at week 0 in the intravitreal injection group. Comprehensive ophthalmic evaluations were performed at baseline and every 4 weeks through week 48. RESULTS: Thirty patients (n=40 eyes) completed the 48-week study period. After treatment, best-corrected visual acuity was significantly (p<0.05) improved at all follow-up visits in the group receiving intravitreal injection alone, at all but week 4 in the ETDRS group, and at all but weeks 4 and 8 for the PASCAL group. A significant decrease in central subfield macular thickness was observed in the PASCAL group at weeks 4, 8, and 48; only at week 48 in the intravitreal injection group; and never in the ETDRS group. There was no significant difference among the three treatment groups with respect to change from baseline to week 48 in best-corrected visual acuity, central subfield macular thickness, or fluorescein leakage from active neovascularization in best-corrected visual acuity, central subfield macular thickness, or fluorescein leakage from active neovascularization. CONCLUSIONS: Intravitreal injection alone or combined with single- or multiple-spot panretinal photocoagulation yielded similar outcomes with respect to mean change in best-corrected visual acuity, central subfield macular thickness, and fluorescein leakage from active neovascularization at up to one-year of follow-up. All subjects provided written informed consent to participate (NCT02005432 in clinicaltrials.gov).

Retinal function in eyes with proliferative diabetic retinopathy treated with intravitreal ranibizumab and multispot laser panretinal photocoagulation.

PURPOSE: To compare retinal function changes in eyes with proliferative diabetic retinopathy (PDR) after intravitreal ranibizumab (IVR), combined or not with conventional (ETDRS) or multispot laser panretinal (PASCAL) photocoagulation (PRP). METHODS: This study included laser-naive PDR patients that required PRP. Eyes were randomly and prospectively assigned to receive IVR or IVR combined with PASCAL or EDTRS. PRP was performed at baseline in 1 (PASCAL) or 2 (ETDRS) sessions. In eyes with macular edema, macular short pulse grid laser was associated with IVR at baseline and IVR was repeated monthly or quarterly if neovascularization was detected on angiography. Comprehensive ophthalmological evaluations, including SD-OCT, were performed at baseline and every 4 weeks after treatment. Full-field electroretinography (ERG: extended ISCEV standard) was performed at baseline and at 12, 24 and 48 weeks. RESULTS: IVR = 13, PASCAL = 15 and ETDRS = 15 eyes finished 48-week follow-up. There was a statistically significant BCVA improvement of 0.1-0.3 logMAR in all groups, and fluorescein angiography leakage area (FLA) reduced in 56%, 73%, and 73% from baseline for ETDRS, IVR and PASCAL, respectively, up to 48 weeks without significant differences between groups (p > 0.05). A significant a- and b-wave amplitudes reduction was observed for dark- and light-adapted ERG for ETDRS and PASCAL, but only minor dark-adapted b-wave reduction was found for IVR, up to 48 weeks. As an example, at week 48, combined response b-wave amplitude reduced in 181.5 ± 31.4 µV, 128.0 ± 27.9 µV and 82.4 ± 15.2 µV for ETDRS, PASCAL and IVR (p < 0.05 each group), respectively. No significant difference was observed between ETDRS and PASCAL for any ERG parameter. CONCLUSIONS: IVR combined with single or multiple spot PRP causes similar retinal function impairment during 48 weeks of observation, while IVR alone seems to be similarly effective controlling FLA without changing retinal function.

Foveal thickness reduction after anti-vascular endothelial growth factor treatment in chronic diabetic macular edema.

AIM: To report foveal thickness reduction in eyes with resolution of macular edema and recovery of a foveal depression after one-year of anti-vascular endothelial growth factor (anti-VEGF) therapy for center-involving diabetic macular edema (DME). METHODS: Foveal thickness was assessed with optical coherence tomography to determine the central subfield foveal thickness (CSFT) and macular volume in 42 eyes with DME (CSFT>275 µm). Evaluations also included measurement of best-corrected visual acuity (BCVA), and were performed at baseline, and upon foveal depression recovery achieved after 12 monthly intravitreal injections of either 1.5 mg/0.06 mL bevacizumab (n=21) or 0.5 mg/0.05 mL ranibizumab (n=21). Data was compared to 42 eyes of normally sighted, non-diabetic, healthy individuals with similar age, gender and race distributions. RESULTS: Mean baseline BCVA was 0.59±0.04 and 0.32± 0.03 logMAR (P<0.001) after treatment and resolution of DME, with all, but 3 eyes, showing BCVA improvement. Mean CSFT before treatment was 422.0±20.0 µm, and after treatment, decreased to 241.6±4.6 µm (P<0.001), which is significantly thinner than CSFT found in control subjects (272.0±3.4 µm; P<0.001). Moreover, in 33/42 DM eyes (79%), CSTF was thinner than the matched control eye. Macular volume showed comparable results, but with lower differences between groups (control: 8.5±0.4 mm3; DME: 8.2±1.0 mm3; P=0.0267). CONCLUSION: DME eyes show significantly lower foveal thickness than matched controls after DME resolution achieved with one-year anti-VEGF therapy. Further investigation into the reasonsfor this presumable retinal atrophy using fluorescein angiography and functional parameters as well as establishing possible predictors is warranted. This finding should be considered during the treatment of DME.

Macular dystrophy associated with Kjellin's syndrome: a case report.

Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin's syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin's syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination.

Quality of life in patients with retinitis pigmentosa submitted to intravitreal use of bone marrow-derived stem cells (Reticell -clinical trial).

INTRODUCTION: Retinitis pigmentosa (RP) is a severe neurodegenerative disease of the retina that can lead to blindness. Even without treatment, a clinical study with the use of stem cells is currently underway and the results are being evaluated. In the present report we assess the vision-related quality of life in patients with RP submitted to intravitreal use of bone marrow-derived stem cells. METHOD: The study included 20 patients with RP submitted to intravitreal use of bone marrow-derived stem cells. We evaluate the vision-related quality of life (VRQOL) of patients using the National Eye Institute Visual Function Questionnaire-25 (NEI VFQ-25). Patients were scheduled to answer the questionnaire before treatment and 3 and 12 months after treatment. RESULTS: All patients completed the survey as scheduled. There was a statistically significant improvement (P<0.05) in the quality of life of patients 3 months after treatment, whereas by the 12th month there was no statistically significant difference from baseline. CONCLUSIONS: Cell therapy with intravitreal use of bone marrow-derived stem cells can improve the quality of life of patients with RP, although the improvement is lost with time. A larger number of cases will be necessary to evaluate the repercussions of this therapy on the quality of life of these patients. TRIAL REGISTRATION: Clinicaltrials.gov: NCT01560715 . Registered March 19, 2012.

Macular dystrophy associated with Kjellin’s syndrome: a case report / Distrofia macular associada à síndrome de Kjellin: um relato de caso

Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin’s syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin’s syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination.

A paralisia espástica hereditária (HSP) é caracterizada por fraqueza e espasticidade das extremidades inferiores. A síndrome de Kjellin é uma rara associação de HSP com a presença de flecks retinianos similares aos encontrados em pacientes com doença de Stargardt ou fundus flavimaculatus. Descrevemos os achados em imagens multimodais da retina (tomografia de coerência óptica de domínio espectral [SD-OCT], reflectância próxima ao infravermelho e autofluorescência) em um paciente de 34 anos que apresenta conjunto completo de sinais e sintomas da síndrome de Kjellin. As alterações retinianas em estágios iniciais da doença podem aparecer, mesmo sem redução da acuidade visual, e por isso, para detecção da degeneração central da retina, é necessário exame minucioso do fundo de olho.

Psychophysically determined full-field stimulus thresholds (FST) in retinitis pigmentosa: relationships with electroretinography and visual field outcomes.

PURPOSE: The purpose of this study is to describe the relationships between full-field stimulus threshold (FST), electroretinography (ERG), and visual field (VF) outcomes in retinitis pigmentosa (RP). METHODS: Data from 47 patients with RP (n = 94 eyes) were evaluated. Patients were submitted to comprehensive ophthalmological examination including measurement of best-corrected visual acuity (BCVA), 30-2 threshold static VF, and microperimetry. Full-field ERG (ISCEV standard) was recorded, and achromatic FST was measured using a Diagnosys Espion system with the ColorDome™ LED full-field stimulator (Diagnosys LLC, Lowell, MA, USA). RESULTS: BCVA mean ± SD was 0.31 ± 0.03 logMAR, and FST mean ± SD was -18.45 ± 9.53 dB. No significant correlation was found between BCVA and FST. In contrast, statistically significant correlations were found between FST and static 30-2 VF mean deviation (r = -0.389; P < 0.01), microperimetry mean threshold (r = -0.607; P < 0.01). Dark and light-adapted ERGs were detectable in 28 and 48 eyes, respectively. Nevertheless, considering only the eyes with recordable ERG responses, moderate correlations were found between combined dark-adapted a-wave amplitude (r = -0.560; P < 0.01), b-wave amplitude (r = -0.643; P < 0.001), 30-Hz flicker response (r = -0.501; P < 0.01), and FST, and high correlation with FST for cone b-wave amplitude (r = -0.715; P < 0.01). CONCLUSIONS: FST could be successfully determined in RP patients with a wide range of vision loss. FST results showed stronger correlations with full-field ERG amplitude than with sensitivity measured with visual field tests. FST is as an alternative to VF or ERG for assessment of retinal function in patients unable to do visual fields or with non-detectable ERGs.

Electroretinographic findings associated with panretinal photocoagulation (PRP) versus PRP plus intravitreal ranibizumab treatment for high-risk proliferative diabetic retinopathy.

To evaluate changes in electroretinographic (ERG) findings after panretinal photocoagulation (PRP) compared to PRP plus intravitreal injection of ranibizumab (IVR) in eyes with high-risk proliferative diabetic retinopathy (PDR). Patients with high-risk PDR and no prior laser treatment were assigned randomly to receive PRP (PRP group; n = 9) or PRP plus IVR (PRPplus group; n = 11). PRP was administered in two sessions (weeks 0 and 2), and IVR was administered at the end of the first laser session (week 0) in the PRPplus group. Standardized ophthalmic evaluations including (ETDRS) best-corrected visual acuity (BCVA), and fluorescein angiography to measure area of fluorescein leakage (FLA), were performed at baseline and at weeks 16 (±2), 32 (±2) and 48 (±2). ERG was measured according to ISCEV standards at baseline and at week 48 (±2). At 48 weeks, 2,400-3,000 laser spots had been placed in eyes in the PRP group, while only 1,400-1,800 spots had been placed in the PRPplus group. Compared to baseline, there was a statistically significant (P < 0.05) FLA reduction observed at all study visits in both groups, with the reduction observed in the PRPplus group significantly larger than that in the PRP group at week 48. ROD b-wave amplitude was significantly reduced to 46 ± 5% (P < 0.05) of baseline in the PRP group and 64 ± 6% (P < 0.05) in the PRPplus group. This reduction was significantly larger in the PRP group than in the PRPplus group (P = 0.024; t Test). Similar results were observed for the dark-adapted Combined Response (CR) b-wave amplitude, with a reduction at 48 weeks compared to baseline of 45 ± 4% in the PRP group and 62 ± 5% in the PRPplus group; the reduction in CR b-wave amplitude was significantly larger in the PRP group than in the PRPplus group (P = 0.0094). CR a-wave, oscillatory potentials, cone single flash, and 30 Hz flicker responses showed statistically significant within-group reductions, but no differences in between-group analyses. These results suggest that treating high-risk PDR with PRP plus IVR is effective for PDR control, and permits the use of less extensive PRP which, in turn, induces less retinal functional loss, in particular for rod-driven post-receptoral responses, than treatment with PRP alone.