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Purpose To evaluate retinal and choriocapillary vessel density (VD) changes in patients with chronic central serous chorioretinopathy (CSC) treated with half-fluence verteporfin photodynamic therapy (vPDT) or eplerenone, using optical coherence tomography angiography (OCTA). Methods Patients affected by CSC and treated with vPDT and eplerenone were retrospectively studied. At baseline and 3 months after each treatment, all patients underwent a complete ophthalmological examination, including an evaluation of best-corrected visual acuity (BCVA), slit-lamp biomicroscopy, fundus examination, fluorescein angiography (FA), indocyanine green angiography (ICGA), spectral-domain optical coherence tomography (SD-OCT) and OCTA. Results Forty-eight eyes of patients with CSC were analysed. Twenty-four eyes were placed in the vPDT group, and 24 eyes formed the eplerenone group. In both groups, OCTA showed a significant improvement in the VD of deep capillary plexus (DCP) and choriocapillaris (CC) after treatments with respect to baseline (p 0.05). The PDT group demonstrated a statistically significant increase in the VD of DCP and CC with respect to the eplerenone group (DCP p = 0.012; CC p = 0.004). A statistically significant reduction with respect to baseline in subfoveal choroidal thickness (SFCT) (p = 0.001 for vPDT group; p = 0.001 for eplerenone group) and in central foveal thickness (CFT) (p = 0.001 for vPDT group; p = 0.001 for eplerenone group) was also found. The SFCT was significantly thinnest in the PDT group with respect to the eplerenone group (p = 0.021). Conclusion OCTA allowed us to study retinal and choriocapillary vascular changes in patients with CSC treated with vPDT and eplerenone.

Purpose To evaluate a case of macular retinoschisis associated with a TJP2 mutation in a young woman affected by a Progressive Familiar Intrahepatic Cholestasis (PFIC) using multimodal imaging. Methods Observational case report. Results A 35-year-old woman, undergone a liver transplant for PFIC, was referred to Eye Clinic for complete ophthalmological examination and multimodal imaging. Fundus examination showed no significant alterations in both eyes while multicolor image revealed the presence of several cystes in macular region. The autofluorescence image highlighted small areas of iperautofluorescence in macular region. En-face image showed a “coral shape pattern” and structural optical coherence tomography (OCT) revealed foveal hyporeflective cystic spaces in outer and inner nuclear layers, areas of splitting within the nerve fiber layer (schisis areas) and an initial preretinal fibrosis. Lastly, OCT-angiography (OCT-A) demonstrated small perifoveal teleangectasias and slight reduction of the foveal avascular zone area. Conclusion Multimodal imaging could help to highlight the presence of a rare retinal disorder associated with a gene related systemic disease.

Purpose: To evaluate the radial peripapillary vascular plexus of a cavitary congenital optic disc anomaly in a young patient with recessive autosomal metaphyseal acroscyphodysplasia using optical coherence tomography angiography (OCTA). Methods: Observational case report. Results: A 17-year-old man, with diagnosis of metaphyseal acroscyphodysplasia was referred to Eye Clinic for fundus examination and multimodal imaging for retinal epithelium hypertrophy in the right eye. Clinical examination showed cup-shaped metaphyses, short stature, hyperthelorism, and telecanthus. An optic disc coloboma was detected in the right eye on fundus examination. Wide field en-face Optical Coherence Tomography (OCT) showed a hyporeflective area corresponding to the right optic disc coloboma. At OCTA examination, the whole papillary region revealed a rarefaction of the vascular network, while the ganglion cell complex’s and retinal fiber layers’ parameters were normal in both eyes. Conclusion: The presence of coloboma disc congenital defect linked to embryological abnormalities during the development process could pave the way for a wider understanding of the pathogenesis of metaphyseal acroscyphodysplasia by increasingly framing it as a systemic disease.

Purpose To describe the role of optical coherence tomography angiography (OCTA) to help in differential diagnosis between papilledema and a rare case of choroidal neovascularization (CNV) associated with Morning Glory Syndrome (MGS). Methods Observational case report. Results A 22-year old man was referred to Eye clinic from Neurological unit with a diagnosis of papilledema in right eye. OCTA scans on the optic disc revealed a dense radial peripapillary vascular network while two polypoidal choroidal vasculopathy (PCV) were present in peripapillary region at the edge of staphyloma in corrispondence of choriocapillary layer. Therefore, the patient underwent three-monthly intravitreal injections of anti-vascular endothelial growth factor. One and six months after loading phase, the PCVs showed no clinical activity at structural spectral domain-OCT and OCTA. Conclusion This case revealed the crucial role of OCTA as an efficace diagnostic technique in discriminating papilledema from MGS complicated by CNV, allowing to make differential diagnosis, useful in ophthalmological and neurological clinical practice.

This study describe the optical coherence tomography angiography (OCTA) features of a young patient with Tuberous sclerosis complicated with CNV unilateral macular choroidal neovascularization during the ranibizumab therapy. OCTA scans of macular region of right eye, revealed a dense microvascular network confirming the diagnosis of CNV. After four monthly intravitreal injections, OCTA revealed a decrease of size and activity of CNV. OCTA is a valid, non-invasive, dyeless, and reliable method that could improve the diagnosis and management of CNV in child with Tuberous sclerosis.

This study describes the optical coherence tomography and optical coherence tomography angiography features of three eyes of three patients affected by contractile morning glory syndrome. Optical coherence tomography angiography scans of the peripapillary retina revealed a dense microvascular network without any vascular difference between the superficial vascular plexus and the deep vascular plexus around the optic nerve. These optical coherence tomography angiography findings confirm that the contractile movement could be due to the presence of an autonomic cholinergic muscular mechanism in the posterior part of the globe. In fact in our cases, the contractile movement seemed to be induced by massage of the eyeball. Optical coherence tomography angiography is a valid, non-invasive, dyeless, and reliable method that could shed light on the pathogenesis of this rare disease of the optic disk.

Purpose: To evaluate choriocapillary vascular density changes in choroidal neovascularization (CNV) type 2 associated with choroidal nevus using optical coherence tomography angiography (OCT-A) before and after anti-VEGF treatment. Methods: Observational case report. Results: A 25-year-old woman, was referred to Eye Clinic and presented a decreased visual acuity in right eye. Fundus examination showed a pigmented lesion located in macular region associated with subretinal hemorrhages adjacent to the mass in right eye. The diagnosis of choroidal nevus-associated with CNV was made and confirmed by spectral domain (SD)-OCT, OCT-A, and ultrasound examination. Two monthly ranibizumab intravitreal injections (IVT) were performed and a regression of the activity of neovascular lesion was noted. OCT-A showed a reduction of choriocapillaris vessel density (VD) before the treatment and an increase of VD after IVT injections. Conclusion: OCT-A could be a non-invasive and diagnostic tool to evaluate choriocapillaris vascular changes after IVT injections in CNV associated with choroidal nevus.

Purpose: To report a case of quiescent choroidal neovascularization (CNV) associated with choroidal nevus using optical coherence tomography angiography (OCTA) during 5 years follow-up. Methods: Observational case report. Results: A 53-year old woman was referred our department with diagnosis of choroidal nevus. At 1 year follow-up, fundus autofluorescence revealed hyper/hypoautofluorescent area, infrared image showed hyperreflective area and enhanced depth imaging OCT presented a shallow pigment epithelium detachment without exudation or hemorrhage. Fluorescein angiography and indocyanine green angiography suspected the presence of CNV. Finally, OCTA confirmed a quiescent CNV with an increased flow area of the vascular lesion without any changes in best-corrected visual acuity. At 20 months and 5 years follow-up, the CNV remained quiescent showing no clinical activity on structural SD-OCT and no changes in CNV morphology on OCTA. Conclusion: This case shows the features of quiescent CNV secondary to choroidal nevus after long-term follow-up. OCTA represents a valid imaging technique that allows to identify the CNV and to monitor its progression over time.

Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with theA 26-year-old female patient with profound congenital sensorineural hearing loss, nyctalopia and retinitis pigmentosa was studied. Audiometric, vestibular and ophthalmologic examination was performed. A panel of 13 genes was tested by next-generation sequencing (NGS).While the hearing loss was confirmed to be profound, the vestibular function resulted normal. Although typical retinitis pigmentosa was present, the age at onset was unusually late for USH1 syndrome. A novel homozygous missense variation (c.1187TA, p.Leu396Gln) in theGenetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes.

Purpose: To report the functional and anatomic features of a case of acute posterior multifocal placoid pigment epitheliopathy (APMPPE). Methods: Case report. Results: A 30-year-old man presented with a decrease of visual acuity that started a few days earlier. Fundus examination showed multiple, subretinal, white-yellowish lesions at the posterior pole in both eyes, suggesting APMPPE. Symptoms and clinical signs resolved within a few weeks, leaving welldefined areas of atrophy of the retinal pigment epithelium (RPE). Conclusions: This case report emphasizes the role of the RPE in the pathogenesis of APMPPE.