Optical Coherence Tomography Angiography in CRB1-Associated Retinal Dystrophies.

AIM OF THE STUDY: To report optical coherence tomography angiography (OCTA) findings in patients affected by CRB1-associated retinal dystrophies. METHOD: Patients affected by a genetically confirmed CRB1-associated retinal dystrophy were prospectively enrolled in an observational study, along with age- and sex-matched healthy volunteers as control subjects. All study and control subjects received a complete ophthalmic examination and multimodal retinal imaging, including OCTA. RESULT: A total of 12 eyes from 6 patients were included in the study. The mean BCVA of patients was 0.42 ± 0.25 logMAR. Two patients showed large central atrophy, with corresponding definite hypo-autofluorescence on fundus autofluorescence (FAF). Another four patients disclosed different degrees of RPE mottling, with uneven FAF. On OCTA, the macular deep capillary plexus and choriocapillaris had a lower vessel density in eyes affected by CRB1-associated retinopathy when compared to healthy controls. On the other hand, vessel density at the peripapillary radial capillary plexus, superficial capillary plexus, and deep capillary plexus was significantly altered with respect to control eyes. Statistical analyses disclosed a negative correlation between the deep capillary plexus and both LogMAR best corrected visual acuity and central retinal thickness. CONCLUSION: Our study reveals that CRB1-associated retinal dystrophies are characterized by vascular alterations both in the macular and peripapillary region, as assessed by OCTA.

Multimodal imaging in Schubert-Bornschein congenital stationary night blindness.

BACKGROUND: Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness (CSNB). The aim of the study is to describe the optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) findings in patients with SB CSNB. METHODS: Prospective, observational case series including three patients with genetically confirmed CSNB along with matched controls, who underwent complete ophthalmic examination and multimodal imaging. RESULTS: On SD-OCT, a significant focal outer plexiform layer (OPL) thickening and a corresponding focal outer nuclear layer (ONL) thinning were identified in the macular area (p < 0.001). OCTA analysis overall showed decreased density of macular deep capillary plexus (mDCP) and macular choriocapillaris (mCC) (p = 0.008 and p = 0.033, respectively). DCP vessel density in the area corresponding to OPL thickening was significantly increased compared to the remaining retina (p < 0.001). CONCLUSION: SB CSNB is characterized by retinal vascular impairment, as detected on OCTA.

PARACENTRAL ACUTE MIDDLE MACULOPATHY IN CENTRAL RETINAL VEIN OCCLUSION COMPLICATING AMYLOID LIGHT-CHAIN AMYLOIDOSIS.

PURPOSE: To describe a case of paracentral acute middle maculopathy associated with central retinal vein occlusion in a patient affected by amyloid light-chain amyloidosis. METHODS: One patient with confirmed diagnosis of amyloid light-chain amyloidosis, displaying paracentral acute middle maculopathy and central retinal vein occlusion, was recruited. The patient underwent complete ophthalmologic examination and multimodal imaging, including: fundus autofluorescence, fluorescein angiography, indocyanine green angiography, spectral-domain optical coherence tomography, and optical coherence tomography angiography. RESULTS: Fundus autofluorescence showed a ferning pattern, corresponding to linear hypofluorescence in late-phase indocyanine green angiography and delayed venous filling, detected by fluorescein angiography. Structural optical coherence tomography revealed a hyper-reflective line located in the outer plexiform layer, corresponding to the prominent middle limiting membrane, along with several placoid lesions. Optical coherence tomography angiography found that the superficial capillary plexus was preserved, whereas vessel density was reduced in both the deep capillary plexus and the choriocapillaris. After 1 year of follow-up, the patient achieved an almost complete morphological recovery. CONCLUSION: Multimodal imaging described in depth the morphological features of a case of combined paracentral acute middle maculopathy and central retinal vein occlusion in a patient affected by amyloid light-chain amyloidosis.

Focal choroidal excavation and pitchfork sign in choroidal neovascularisation associated with choroidal osteoma.

PURPOSE: To describe a complex case of choroidal osteoma complicated by choroidal neovascularisation and focal choroidal excavation and presence of pitchfork sign. METHODS: A young female patient with confirmed diagnosis of choroidal osteoma was followed up for 5 years. Multimodal imaging including optical coherence tomography and fluorescein angiography (Spectralis HRA + OCT; Heidelberg Engineering, Heidelberg, Germany) was performed. RESULTS: Optical coherence tomography showed the presence of a unilateral choroidal osteoma in the first visit which was later followed by the appearance of focal choroidal excavation. After 3 years, choroidal neovascularisation developed in choroidal osteoma area, with subretinal fluid, subretinal hyper-reflective material, hyper-reflective foci and pitchfork sign. Decalcification of the tumour was not noted in this patient. Treatment with one intravitreal injection of Aflibercept resulted in complete disappearance of subretinal fluid, subretinal hyper-reflective material, pitchfork sign and decreased hyper-reflective foci. CONCLUSION: Inflammatory response can be a propulsive element in the development of focal choroidal excavation and choroidal neovascularisation in choroidal osteoma patients.

Optical Coherence Tomography Angiography in Extensive Macular Atrophy with Pseudodrusen-Like Appearance.

Purpose: Analyses of quantitative features of optical coherence tomography angiography (OCTA) in patients affected by extensive macular atrophy with pseudodrusen-like appearance (EMAP). Methods: In a prospective case-control study, patients and age- and gender-matched healthy controls underwent complete ophthalmologic examination, including best corrected visual acuity (BCVA) measurement, biomicroscopy, fundus autofluorescence and spectral-domain optical coherence tomography (Spectralis HRA; Heidelberg Engineering GmbH, Heidelberg, Germany), and OCTA scans (DRI OCT Triton; Topcon Corporation, Tokyo, Japan). Vessel density in the superficial capillary plexus and deep capillary plexus (DCP) in the retina and choriocapillaris (CC) in the macula and optic disc were measured. The one-way analysis of variance test with Bonferroni correction was used for statistical assessments. Results: Seven patients (14 eyes) and 10 controls were included in the study. The mean follow-up period was 3 ± 0.8 years. The mean BCVA of patients at baseline was 0.81 ± 0.43 (logarithm of the minimum angle of resolution [LogMAR]) and 1.05 ± 0.38 (LogMAR) at the final follow-up visit (P = 0.006). Quantitative analyses of retinal vessels revealed significant alterations, especially in the DCP and CC, in both atrophic and junctional zones in retina of EMAP patients compared with preserved zones and controls. Conclusions: OCTA analysis characterized three different retinal regions in EMAP disease, corresponding to progressively deeper perfusion defects. Further investigations are warranted to explore the correlation between DCP changes and the extension of atrophy. Translational Relevance: By expanding our pilot study, we may better define EMAP on the basis of vascular changes and eventually recognize earlier the direction of enlargement of atrophy by means of OCTA analyses.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FEATURES OF FOCAL CHOROIDAL EXCAVATION AND THE CHOROIDAL STROMA VARIATIONS WITH OCCURRENCE OF EXCAVATION.

PURPOSE: To describe retinal and choroidal vascular changes, and choroidal stroma variations occurring in focal choroidal excavation (FCE). METHODS: Study design was a cross-sectional case series. Consecutive patients affected by FCE and healthy controls were recruited. All patients underwent complete ophthalmologic assessment and multimodal imaging, including structural optical coherence tomography and optical coherence tomography angiography. Choroidal thickness and stromal index were calculated from structural optical coherence tomography images. Moreover, we measured vessel density values of the superficial capillary plexus, deep capillary plexus and choriocapillaris at the level of the macula. RESULTS: Twenty-two patients (28 eyes; mean age 57.2 ± 16.4) and 28 control eyes (mean age of 56.5 ± 9.8) were included. Five patients (23%) were asymptomatic, whereas 17 patients (77%) complained of visual symptoms. FCE was associated with choroidal neovascularization in 10 eyes (35%). Choroidal stromal component was lower in FCE patients than controls, whereas choroidal thickness was unremarkable. Stromal index values calculated in the region proximal to the FCE was significantly lower than the values obtained from the external region. Deep capillary plexus vessel density was lower in FCE than controls. Choriocapillaris was altered in the region surrounding the FCE, whereas it was normal in the external region. CONCLUSION: Deep capillary plexus and choriocapillaris plexus were significantly altered in FCE patients. Moreover, choroidal stroma was significantly reduced in the areas closer to FCE compared to the surrounding choroid in patients, as well as compared to healthy controls, suggesting the hypothesis of weakening of the architectural support, creating a more friable point, which can favor FCE development.

Retinal arterial macroaneurysm associated with macular pucker.

PURPOSE: To describe a case of retinal arterial macroaneurysm associated with macular pucker with good response to subthreshold laser treatment. PRESENTATION: Two-year follow-up of a patient with decreased vision in one eye for the past 6 months. Baseline best-corrected visual acuity was 20/40 in the affected eye. Multiple retinal arterial macroaneurysms were diagnosed on biomicroscopy fundus examination, with the presence of subretinal fluid and hard exudates on macula. Multimodal imaging including optical coherence tomography and fluorescein angiography confirmed the diagnosis and presence of macular pucker, which complicated the treatment choice. The largest retinal arterial macroaneurysm was treated 2 days after the diagnosis by means of subthreshold micropulse laser using an infrared diode laser with 1400 mW power, 200 ms exposure and 10% duty cycle. RESULTS: Five months after the treatment, despite absorption of subretinal fluid, there were increased hard exudates at the posterior pole and best-corrected visual acuity was unchanged. Progressively, the exudates were absorbed and vision improved. Eighteen months after the treatment, best-corrected visual acuity was 20/25. Hard exudates were almost completely reabsorbed, with no evidence of fluid. Macular pucker was unchanged, with no retinal traction or complications related to conventional laser treatment. CONCLUSION: Subthreshold laser treatment could be the treatment of choice in complicated cases of retinal arterial macroaneurysm with macular pucker, as it is able to modify the vessel permeability, without any thermal negative effect.