Frequency of cystoid macular edema and vitreomacular interface disorders in genetically solved syndromic and non-syndromic retinitis pigmentosa.

PURPOSE: Retinitis pigmentosa (RP) corresponds to a group of inherited retinal disorders where progressive rod-cone degeneration is observed. Cystoid macular edema (CME) and vitreomacular interface disorders (VMID) are known to complicate the RP phenotype, challenging an age-old concept of retained central visual acuity. The reported prevalence of these changes varies greatly among different studies. We aim to describe the frequency of CME and VMID and identify predictors of these changes in a cohort of Caucasian patients with genetically solved syndromic (sRP) and non-syndromic RP (nsRP). METHODS: Cross-sectional study of patients with genetically solved sRP or nsRP. Genetic testing was clinically oriented in all probands and coordinated by a medical geneticist. The presence/absence of CME and VMIDs such as epiretinal membrane (ERM), vitreomacular traction (VMT), lamellar hole (LH), macular hole (MH), and macular pseudohole (MPH), and the integrity of the neurosensory retina and retinal pigment epithelium were evaluated in individual macular SD-OCT b-scans. Mixed-effects regression analysis models were used to identify significant predictors of BCVA, CME, and VMID. Significance was considered at α < 0.05. RESULTS: We included 250 eyes from 125 patients. Mean age was 44.9 ± 15.7 years and 55.2% were male. Eighty-eight patients had nsRP and 37 had sRP. Median BCVA was 0.5 (0.2-1.3) logMAR. CME was found in 17.1% of eyes, while ERM was found in 54.3% of eyes. The frequency of CME (p = 0.45) and ERM (p = 0.07) did not differ between sRP and nsRP patients, nor across different inheritance patterns. Mixed-effects univariate linear regression identified age (p = 0.04), cataract surgery (p < 0.01), and loss of integrity of outer retinal layers (p < 0.01) as significant predictors of lower visual acuity, while increased foveal thickness (p < 0.01) and the presence of CME (p = 0.04) were predictors of higher visual acuity. On mixed-effects multivariable analysis, only increased foveal thickness was significantly associated with better visual acuity (p < 0.01). CONCLUSION: We found that the burden of ERM and CME in RP patients is high, highlighting the importance of screening for these potentially treatable conditions to improve the quality of life of RP patients.

EYS-Associated Sector Retinitis Pigmentosa.

PURPOSE: Sector retinitis pigmentosa (RP) is a rare form of rod-cone degeneration typically associated with mutations in the RHO gene. We describe six unrelated patients presenting with this atypical phenotype in association with biallelic mutations in EYS gene. METHODS: Multinational, multicentre cross-sectional case series. Patients with biallelic disease-causing variants in EYS and a clinical diagnosis of sector RP were recruited from specialized centres in Portugal and Brazil. All patients underwent a comprehensive ophthalmologic examination complemented by deep phenotyping. Peripheral blood samples were collected from all probands and available relatives for genetic analysis. Genetic counselling was provided to all subjects. RESULTS: Seven disease-causing variants (4 pathogenic; 3 likely pathogenic) were identified in 6 unrelated female patients. Best-corrected visual acuity ranged from 75 to 85 ETDRS letters. All eyes showed bilateral and symmetrical areas of outer retinal atrophy distributed along the inferior vascular arcades and extending temporally and/or nasally in a crescent-shaped pattern. On fundus autofluorescence (AF), a foveal-sparing curvilinear band of hyperAF encroaching the optic nerve head and extending temporally was seen in 4 patients. The remaining 2 presented bilateral and symmetrical patches of hypoAF inside crescent-shaped areas of hyperAF along the inferior temporal vascular arcade. Visual field testing revealed superior visual field defects of varying extents, always in close association with the fundus AF findings. CONCLUSIONS: Even though EYS has only recently been listed as a cause of the sector RP phenotype, we believe that this presentation is not infrequent and should be considered an important differential for sector RP.

[Perspectives and research challenges in abdominal aortic aneurysm calcification]. / Perspetivas e desafios do estudo da calcificação no aneurisma da aorta abdominal.

Abdominal aortic aneurysm (AAA) remains a relevant cause of mortality in Western countries. There is a need for continuous identification of risk factors for aneurysmal progression and predictors of treatment response to optimize the therapeutic strategy to be offered to these patients. Vascular calcification has been studied in several capillary beds as a cardiovascular risk factor. However, the importance of abdominal aortic calcification (AC) in AAA remains incompletely clarified, and the available evidence is scattered and heterogeneous. The objective of this review is to describe the possible impact of AC on aneurysmal progression and rupture, as well as on the response to endovascular correction. It should be noted that the establishment of a validated, quick and easy to use method for assessing AC would be of great clinical and/or research utility.

O aneurisma da aorta abdominal (AAA) permanece uma causa relevante de mortalidade nos países ocidentais. É premente a contínua identificação de fatores de risco de progressão aneurismática bem como de preditores de resposta ao tratamento na otimização da estratégia terapêutica a oferecer a estes doentes. A calcificação vascular tem sido estudada em diversos leitos capilares como um fator de prognóstico cardiovascular. Contudo, a importância da calcificação da aorta abdominal (CA) no AAA permanece incompletamente esclarecida, sendo a prova científica disponível dispersa e heterogénea. O objetivo desta revisão é descrever o eventual impacto da CA na progressão e rutura aneurismática, bem como na resposta à correção endovascular do AAA. Salienta-se que o estabelecimento de um método validado, rápido e fácil de usar para avaliar a CA seria de grande utilidade clínica e/ou investigacional.

Abdominal aortic aneurysm calcification: trying to identify a reliable semiquantitative method.

BACKGROUND: The main objective of this study was to assess the correlation between three semiquantitative and one computerized method based on Agatston Score (AS), when measuring abdominal aortic calcification (AAC) in abdominal aortic aneurysm (AAA) patients. Secondary aim was to access differences in AAC upon clinical variables, when different methods of calcium scoring are used. METHODS: This was an observational, retrospective, cross-sectional study. A database of AAA patients consecutively submitted to elective repair between 2008 and 2015 was used. Patients were excluded if they did not have preoperative imaging or presented scans incompatible with at least one of the whole set of calcification methods tested. Calcification measures were performed using AS, Aortic Calcification Index (ACI), AAC-8 and AAC-24 methods. The Pearson's correlation was used for primary analysis. RESULTS: Study population comprised 102 patients, 95% males, with a median age of 71 (interquartile range, IQR 66-76) years. AAAs presented median aortic diameter of 60 (54-70) mm. Pearson's correlation with AS was 0.816 for ACI, 0.703 for AAC-8 and 0.648 for AAC-24. ACI also presented the highest ICC for intraobserver agreement (0.972) and for interobserver agreement (0.966). ACI was associated more often to demographic and clinical variables in the dataset that associated with the computerized method. CONCLUSIONS: ACI is suggested as a fast and easy-to-use method of assessing AAC in AAA patients. Its use should be encouraged to study AAC in AAA over other semiquantitative methods, in research settings.

Congenital Grouped Albinotic Spots: New Insights on the Pathophysiology Based on Multimodal Retinal Imaging.

The terms "congenital grouped albinotic spots" (CGAS) and "polar bear tracks" refer to a rare, benign retinal disorder of unknown etiology characterized by multiple, predominantly unilateral, variably sized, well-circumscribed, flat white retinal spots organized in groups. To date, very few cases of CGAS have been reported. The authors describe a case of CGAS thoroughly characterized by multimodal imaging over an 8-year follow-up, aiming to provide new insights on the pathophysiology of this entity. This is the first report where a long follow-up combined with up-to-date imaging technology is used to characterize CGAS. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:236-238.].