UNASSIGNED: This cross-sectional study describes the ophthalmological and general phenotype of 10 patients from six different families with a comparatively mild form of Zellweger spectrum disorder (ZSD), a rare peroxisomal disorder.
UNASSIGNED: Ophthalmological assessment included best-corrected visual acuity (BCVA), perimetry, microperimetry, ophthalmoscopy, fundus photography, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Medical records were reviewed for medical history and systemic manifestations of ZSD.
UNASSIGNED: Nine patients were homozygous for c.2528 G > A (p.Gly843Asp) variants in PEX1 and one patient was compound heterozygous for c.2528 G>A (p.Gly843Asp) and c.2097_2098insT (p.Ile700TyrfsTer42) in PEX1. Median age was 22.6 years (interquartile range (IQR): 15.9 - 29.9 years) at the most recent examination, with a median symptom duration of 22.1 years. Symptom onset was variable with presentations of hearing loss (n = 7) or nyctalopia/reduced visual acuity (n = 3) at a median age of 6 months (IQR: 1.9-8.3 months). BCVA (median of 0.8 logMAR; IQR: 0.6-0.9 logMAR) remained stable over 10.8 years and all patients were hyperopic. Fundus examination revealed a variable retinitis pigmentosa (RP)-like phenotype with rounded hyperpigmentations as most prominent feature in six out of nine patients. Electroretinography, visual field measurements, and microperimetry further established the RP-like phenotype. Multimodal imaging revealed significant intraretinal fluid cavities on SD-OCT and a remarkable pattern of hyperautofluorescent abnormalities on FAF in all patients.
UNASSIGNED: This study highlights the ophthalmological phenotype resembling RP with moderate to severe visual impairment in patients with mild ZSD. These findings can aid ophthalmologists in diagnosing, counselling, and managing patients with mild ZSD.

The article presents a clinical observation of visual organ damage as an extrarenal manifestation of thrombotic microangiopathy in malignant arterial hypertension with an analysis of structural and functional changes in the eye by modern examination methods. The presence of renal thrombotic microangiopathy was verified by kidney biopsy. Optical coherence tomography was used to determine structural changes in the inner and outer layers of the retina in the form of their disorganization, areas of thickening of the nerve fiber layer, intraretinal inclusions and cysts, alterations of the ellipsoid zone and retinal pigment epithelium. Optical coherence tomography angiography revealed areas of vascular pattern attenuation in the deep and superficial retinal plexuses corresponding to OCT-detected foci of disorganization of the inner retinal layers. Color Doppler imaging showed absence of the diastolic component of the Doppler spectrum with an increase in the peripheral resistance index RI up to 1.0 in the central retinal artery and posterior short ciliary arteries in both eyes. Functional changes observed with multifocal electroretinography and microperimetry corresponded to the structural changes. Taking into account the similarity of microcirculation in the kidneys and the eyes, the probable pathogenetic mechanism underlying the detected structural and functional symptoms of ischemic damage to the visual organ in malignant arterial hypertension is chronic thrombotic microangiopathy. An interdisciplinary approach to studying thrombotic microangiopathy, including those associated with malignant arterial hypertension, using high-tech examination methods can be useful for timely diagnosis and treatment of this pathology.
В статье представлено клиническое наблюдение поражения органа зрения как экстраренального проявления тромботической микроангиопатии (ТМА) при злокачественной артериальной гипертензии (ЗАГ), в котором с применением современных методов исследования проанализированы структурные и функциональные изменения глаза. Наличие ренальной ТМА было верифицировано при нефробиопсии. С помощью оптической когерентной томографии (ОКТ) были определены структурные изменения внутренних и наружных слоев сетчатки в виде их дезорганизации, участков утолщения слоя нервных волокон, интраретинальных включений и кист, альтерации эллипсоидной зоны и ретинального пигментного эпителия. В результате ОКТ с функцией ангиографии обнаружены участки обеднения глубокого и поверхностного сосудистых сплетений сетчатки, соответствующие очагам дезорганизации внутренних слоев сетчатки по данным ОКТ. По данным цветового допплеровского сканирования на обоих глазах выявлено отсутствие диастолического компонента допплеровского спектра с повышением индекса периферического сопротивления (resistance index, RI) до 1,0 в центральной артерии сетчатки и задних коротких цилиарных артериях. Функциональные изменения по данным мультифокальной электроретинографии и микропериметрии соответствовали структурным изменениям. Учитывая сходство микроциркуляции почек и глаза, вероятным патогенетическим механизмом, лежащим в основе обнаруженных структурных и функциональных изменений органа зрения ишемического характера при ЗАГ, является хроническая ТМА. Междисциплинарный подход к изучению ТМА, в том числе ассоциированной с ЗАГ, с применением высокотехнологичных методов исследования может быть полезен для своевременной диагностики и лечения данной патологии.

In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female; median age 52 years) and compare it with that of 204 USH2A patients (111 male, 93 female; median age 43 years) in terms of nyctalopia onset, best corrected visual acuity (BCVA), fundus autofluorescence (FAF), and optical coherence tomography (OCT) features. There was no statistical difference in the median age at onset (30 and 18 years; Mann-Whitney U test, p = 0.13); the mean age when 50% of the patients reached legal blindness (≥1.0 log MAR) based on visual acuity (64 years for both groups; log-rank, p = 0.3); the risk of developing advanced retinal degeneration (patch or atrophy) with age (multiple logistic regression, p = 0.8); or the frequency of cystoid macular edema (31% vs. 26%, Fisher\'s exact test, p = 0.4). ADGRV1 and USH2A retinopathy were indistinguishable in all major functional and structural characteristics, suggesting that the loss of function of the corresponding proteins produces similar effects in the retina. The results are important for counseling ADGRV1 patients, who represent the minor patient subgroup.

Purposes: To investigate the patterns of fundus autofluorescence (FAF) in patients with different grades of myopic atrophy maculopathy (MAM).Methods: Patients with MAM who visited Zhongshan Ophthalmic Center from January 2018 to December 2019 were screened. All patients received comprehensive ophthalmologic examinations as well as FAF imaging. The atrophic severity of each eye was identified based on the META-PM classification system, including no myopic retinal lesions (C0), tessellated fundus only (C1), diffuse chorioretinal atrophy (C2), patchy chorioretinal atrophy (C3), and macular atrophy (C4).Results: Eighty-nine consecutive patients with 137 affected eyes were included. Four different autofluorescence (AF) patterns were detected: unremarkable AF (48 eyes in C1 and 18 eyes in C2, 48.2%), compound AF (2 eyes in C1 and 12 eyes in C2, 10.2%), patchy AF defect (5 eyes in C2 and 34 eyes in C3, 28.5%), and macular AF defect (18 eyes in C4, 13.1%). Moreover, AF patterns were significantly correlated with age (r = 0.419, P < .001), best-corrected visual acuity (BCVA) (r = 0.592, P < .001), axial length (AL) (r = 0.529, P < .001), and subfovial choroidal thickness (SFCT) (r = -0.728, P < .001). In addition, with the help of FAF, 14.3% (5/35) of eyes initially categorized as C2 merely based on color fundus photographs (CFP) should be categorized as C3.Conclusions: The severity of FAF in eyes with MAM was significantly correlated with myopic characteristics. FAF might be beneficial for detecting unremarkable patchy chorioretinal atrophy on CFP of MAM.

It is important to establish reliable outcome measures to detect progression in retinitis pigmentosa (RP).
To evaluate progression of RP using multimodal imaging, including spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and microperimetry (MP).
Retrospective longitudinal study at a tertiary teaching hospital.
205 eyes of 106 patients with RP with 1 to 5 y of follow-up.
Demographics and visual acuity (VA) were recorded, and each modality was graded at baseline and every annual follow-up. SD-OCT was graded for the width of ellipsoid zone (EZ), FAF was graded for the diameter and area of the hyperautofluorescent ring (if present), and MP was graded for mean, central and paracentral sensitivity. Spearman\'s correlation was used to measure correlations at baseline. Mixed effects models were used to estimate the annual change of each parameter, adjusted for disease duration.
Rate of progression.
The median VA at baseline was 75 letters and was positively correlated with mean and central sensitivity (r: 0.372 and 0.394; P = 0.01 for both). All parameters (except paracentral sensitivity) were strongly correlated with each other (r: 0.673-0.991; P < 0.001 for all). The annual rates of change for each parameter were as follows: VA, -2.3 letters (P < 0.001); EZ, -151 μm (P < 0.001); ring diameter, -132 μm (P < 0.001); ring area, -0.4 mm2 (P < 0.001); mean sensitivity, -0.3 dB (P < 0.001); central sensitivity, -0.7 dB (P < 0.001); paracentral sensitivity, -0.4 dB (P < 0.001).
Structural and functional measures are well correlated in RP and can reliably measure disease progression within the course of a year.

OBJECTIVE: We aimed to describe imaging findings in primary inflammatory choriocapillaropathies (PICCPs) after a photobleaching process.
METHODS: 2Images from six consecutive cases of patients affected by PICCPs (four with multiple evanescent white dot syndrome and two with multifocal choroiditis) were reviewed. Patients underwent fundus autofluorescence (FAF), fluorescein angiography (FA), indocyanine green angiography (ICGA), and spectral-domain optical coherence tomography (SD-OCT) by means of the Spectralis HRA (Heidelberg Engineering, Heidelberg, Germany). FAF images were acquired at the beginning of the examination in partially dark-adapted conditions followed by light adapted conditions.
RESULTS: During the active phase of the diseases, all patients showed areas of increased FAF that became isoautofluorescent after photobleaching. Simultaneously with increased FAF, the ICGA showed typical hypofluorescent dark areas that were more evident in the late phase. SD-OCT showed disruptions in the hyper-reflective band at the ellipsoid zone.
CONCLUSIONS: FAF and SD-OCT are complementary imaging techniques that show alterations in the outer retina of patients affected by PICCPs.

Clinical prognostic markers in atrophic age-related macular degeneration include the extent of existing atrophy, fundus autofluorescence (FAF) patterns and optical coherence tomography changes in the outer retina/retinal pigment epithelium interface. The prognostic implications of these findings may be used to determine not just the rate of disease progression but also influence the likelihood, magnitude and clinical relevance of therapy responses. FAF phenotypes have been extensively investigated; however, the pathophysiological mechanisms behind their appearance have not been fully elucidated. Optical coherence tomography imaging is additive to FAF imaging in atrophic age-related macular degeneration, allowing the visualization of detail not available through FAF imaging whilst also displaying subtle changes correlating with the FAF phenotypes themselves, thereby giving clues to their histological determinates. The developing understanding of these imaging modalities and consequent development of prognostically useful classification systems have widespread implication in clinical care and clinical trial design.

OBJECTIVE: To compare the results, in clinical practice, of screening procedures for hydoxychloroquine retinopathy, according to the new recommendations of the American Academy of Ophthalmology of 2011.
METHODS: Hundred and eighty-four patients on long-term hydroxychloroquine underwent ophthalmologic evaluation, including fundus examination, 10.2 automated visual field, fundus autofluorescence, SD-OCT optical coherence tomography, and multifocal ERG, whenever possible, in a prospective monocentric study.
RESULTS: There was a significant correlation (P<0.05) between cumulative HCQ dose and positive results on SD-OCT and 10.2 visual field. There were no significant correlations between high cumulative HCQ dose and positive results for fundus examination, autofluorescence, or multifocal ERG. Average cumulative doses between the healthy group (946g) and the maculopathy group (1427g) were significantly different (P<0.05). Out of 184 patients, 12 toxic maculopathies were found (prevalence 6.5%). For these 12 cases, 5 were diagnosed at clinical stages, and 7 were diagnosed in the early preclinical stage. Ten patients had positive visual fields, and 8 patients had pathological SD-OCT signs. Autofluorescence was affected in the clinical stage, but not in the preclinical stage. In four out of the twelve cases of maculopathy, patients had pathological ERG results.
CONCLUSIONS: The significant correlation between cumulative HCQ dose, considered as the main risk factor for maculopathy, and positive SD-OCT and 10.2 visual field results render the combination of these two tests the basis of the screening strategy for plaquenil maculopathy. These results suggest using a simplified screening procedure, including annual SD-OCT and 10.2 visual field while taking the cumulative dose into account. Multifocal ERG seems more helpful for diagnostic confirmation than screening, especially for the preclinical stage. Fundus autofluorescence is not an efficient test for early diagnosis.

OBJECTIVE: To evaluate the correlation between fundus autofluorescence (FAF) and spectral-domain OCT (SD-OCT) morphological analysis in eyes with acute central serous chorioretinopathy (CSCR).
METHODS: Thirty-one patients with a first episode of CSCR and symptom duration of less than 6 weeks were prospectively enrolled. FAF and SD-OCT examination were performed at baseline and at 2-month intervals. Main outcome measure was the correlation between FAF and SD-OCT retinal morphology.
RESULTS: At baseline, 30/31 and 29/31 eyes showed a macular hypo-AF, corresponding to the neurosensory retinal detachment (SRD), on shortwave-FAF (SW-FAF) and near-infrared-FAF (NIR-FAF), respectively. While the SRD resolved, both FAF techniques showed a granular hyper-AF in 31 eyes. At first examination, SD-OCT confirmed the SRD with a photoreceptor outer-segment (OS) elongation in all cases. During SRD resolution, the photoreceptor layer appeared thicker and fragmented. Multiple hyper-reflective precipitates were detected in the outer plexiform and nuclear layer and between the photoreceptors and appeared colocalized with the hyper-AF dots composing the granular hyper-AF. After SRD resolution, the hypo-AF area reverted to a normal pattern on SW-FAF in all eyes and in 25/31 on NIR-FAF. Examination at 12 months showed that the granular hyper-AF was still detectable in 54 % eyes, whereas 6/31 eyes showed hypo-AF dots on NIR-FAF. On SD-OCT, the junction IS/OS was identifiable in 11/31 eyes soon after the SRD resolution and appeared completely restored in all patients at the final visit.
CONCLUSIONS: The simultaneous acquisition of FAF and SD-OCT provides detailed findings of retinal abnormalities of CSCR and may help to understand the evolving process linked to CSCR.