Background and objectives: Acute posterior multifocal pigment epitheliopathy/acute multifocal ischaemic choriocapillaritis (APMPPE/AMIC) is part of the group of choriocapillaritis entities. The aim of this article was to report a series of patients with emphasis on the clinical presentation and treatment paradigms. Materials and Methods: Retrospective case series study performed in the Centre for Ophthalmic Specialised care (COS), Lausanne, Switzerland, on patients diagnosed from 2000 to 2021 with APMPPE/AMIC. Procedures performed at presentation and upon follow-up (when available) included best corrected visual acuity (BCVA), routine ocular examination, laser flare photometry (LFP) microperimetry (when available) and visual field testing. Imaging investigations included spectral domain optical coherence tomography (SD-OCT)/enhanced depth imaging OCT (EDI-OCT), OCT angiography (OCT-A) as well as fluorescein and indocyanine green angiography (FA, ICGA). The presence or not of prodromal systemic viral-like symptoms was noted. The localisation of lesions whether foveal or extrafoveal, divided the patients into 2 groups (foveal, peri-or parafoveal). Exclusion criteria were patients diagnosed with APMPPE/AMIC and a positive QuantiFERON test and/or VDRL-TPHA tests. Results: Nineteen (35 eyes) of 1664 new patients (1.14%) were diagnosed with APMPPE/AMIC and included in our study. 13 (68%) were male and 6 (32%) were female. The mean age was 33.1 ± 9.2 years. 16 (84%) patients mentioned a viral prodromal episode or other systemic symptoms, and 3 (16%) did not mention any episode before the onset of ocular symptoms. 15 (39%) out of 38 eyes had foveal localisation of the lesions, 20 (52.6%) had peri- or para-foveal localisations and 3 eyes were normal [3 unilateral cases (15%)]. Mean BCVA at presentation was 0.83 ± 0.24 for the whole group. It was 0.58 ± 0.28 for the group with foveal lesions, increasing to 0.97 ± 0.13 at last follow-up (p = 0.0028). For the group with extrafoveal lesions mean BCVA at presentation was 0.94 ± 0.18, improving to 1.18± 0.10 at last follow-up (p = 0.0039). 13 (68%) patients received prednisone treatment, of whom 2 (10%) received additionally at least one immunosuppressive agent, 4 (20%) patients received no treatment and in 2 patients the information was unavailable. All patients in the foveal lesion group received corticosteroid treatment except one who evolved to bilateral macular atrophy. Conclusions: APMPPE/AMIC is a primary choriocapillaritis. Although it is thought that the disease is self-limited, treatment is necessary in most cases, especially when lesions are located in the fovea.

Optic disc drusen (ODD) are a well-recognised cause of an elevated optic disc appearance. When visible with ophthalmoscopy and fundus photography, ODD are readily identified. Yet, in more subtle cases of ODD, ancillary testing may be needed to render the diagnosis. Facilitating the diagnosis of ODD has clinical relevance, because affected individuals may otherwise undergo unnecessary costly and invasive investigations to rule out raised intracranial pressure and other causes of optic disc oedema. In this review, the role of established and emerging optical coherence tomography (OCT) techniques in the diagnosis and management of ODD cases is reviewed. A practical approach is taken to explain how to optimise use of commercially available OCT technology in the clinical setting. Optical coherence tomography provides many advantages over other imaging modalities in the diagnosis of ODD, including the ability to correlate retinal measures of neuroaxonal structure with drusen characteristics. Earlier spectral domain OCT techniques, however, were hindered by poor penetrance. In the modern imaging era, enhanced depth imaging OCT and swept source OCT enable higher resolution of ODD and other optic nerve head structures that might otherwise be mistaken for drusen. Ongoing studies featuring OCT angiography indicate that this technique may provide complementary information about microvascular supply that correlate with structural measures of optic nerve injury. Advances in OCT will continue to improve diagnostic accuracy and inform clinical understanding regarding structure-function correlations germane to the longitudinal follow up of ODD patients.

Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It is caused by mutation in the NF1 gene on chromosome 17 encoding for neurofibromin, a protein with oncosuppressive activity, and it is 50% sporadic or inherited. The disease is characterized by a broad spectrum of clinical manifestations, mainly involving the nervous system, the eye and skin, and a predisposition to develop multiple benign and malignant neoplasms. Ocular diagnostic hallmarks of NF1 include optic gliomas, iris Lisch nodules, orbital and eyelid neurofibromas, eyelid café-au-lait spots. Choroidal nodules and microvascular abnormalities have recently been identified as additional NF1-related ocular manifestations. The present study was designed to describe the features and clinical significance of a new sign related to the visual apparatus in NF-1, represented by hyperpigmented spots (HSs) of the fundus oculi.
HSs were detected in 60 (24.1%) out of 249 patients with NF1, with a positive predictive value of 100% and a negative predictive value of 44.2%. None of the healthy subjects (150 subjects) showed the presence of HSs. HSs were visible under indirect ophthalmoscopy, ultra-wide field (UWF) pseudocolor imaging and red-only laser image, near-infrared reflectance (NIR)-OCT, but they were not appreciable on UWF green reflectance. The location and features of pigmentary lesions matched with the already studied NF1-related choroidal nodules. No significant difference was found between the group of patients (n = 60) with ocular HSs and the group of patients (n = 189) without ocular pigmented spots in terms of age, gender or severity grading of the disease. A statistically significant association was demonstrated between the presence of HSs and neurofibromas (p = 0.047), and between the presence of HSs and NF1-related retinal microvascular abnormalities (p = 0.017).
We described a new ocular sign represented by HSs of the fundus in NF1. The presence of HSs was not a negative prognostic factor of the disease. Following multimodal imaging, we demonstrated that HSs and choroidal nodules were consistent with the same type of lesion, and simple indirect ophthalmoscopy allowed for screening of HSs in NF1.

Glaucoma is a chronic and progressive optic neuropathy characterized by the death of retinal ganglion cells and corresponding visual field loss. Despite the growing number of studies on the subject, the pathogenesis of the disease remains unclear. Notwithstanding, several studies have shown that the lamina cribrosa (LC) is considered an anatomic site of glaucomatous optic nerve injury, thus having a key role in the pathophysiology of glaucoma development and progression. Different morphological alterations of the LC have been described in vivo in glaucomatous eyes after the evolution of optical coherence tomography (OCT) devices. The most relevant findings were the reduction of laminar thickness, the presence of localized defects, and the posterior LC displacement. These new laminar parameters documented through OCT are not only promising as possible additional tools for glaucoma diagnosis and monitoring, but also as predictors of disease progression. In spite of the advance of technology, however, proper evaluation of the LC is not yet viable in all eyes. We describe OCT-identified LC changes related to the development and progression of glaucoma and provide future directions based on a critical data analysis, focusing on its clinical relevance and applicability.