Association Between Hypovitaminosis D and Late Stages of Age-Related Macular Degeneration: A Case-Control Study

International audienc

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

To revisit the autosomal dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disease. We report clinical and imaging data of ten affected individuals from 2 unrelated families with SFD and carrying heterozygous TIMP3 mutations (c.572A > G, p.Y191C, exon 5, in family 1 and c.113C > G, p.S38C, exon 1, in family 2). In family 1, all SFD patients older than 50 (two generations) had also a severe emphysema, despite no history of smoking or asthma. In the preceding generation, the mother died of pulmonary emphysema and she was blind after the age of 50. Her two great-grandsons (<20 years), had abnormal Bruch Membrane thickness, a sign of eye disease. In family 2, eye and lung diseases were also associated in two generations, both occurred later, and lung disease was moderate (bronchiectasis). This is the first report of a syndromic SFD in line with the mouse model uncovering the role of TIMP3 in human lung morphogenesis and functions. The TIMP3 gene should be screened in familial pulmonary diseases with bronchiectasis, associated with a medical history of visual loss. In addition, SFD patients should be advised to avoid tobacco consumption, to practice sports, and to undergo regular pulmonary examinations

Photodynamic therapy for choroidal metastasis from lung adenocarcinoma

International audiencexx

Pachychoroid neovasculopathy: aspect on optical coherence tomography angiography

Purpose: To describe and interpret the features of pachychoroid neovasculopathy (PNV) using optical coherence tomography angiography (OCTA) technique. Methods: This is an observational case series of patients who presented with PNV. Best-corrected visual acuity (BCVA), anterior segment examination, dilated funduscopic examination, infrared and autofluorescence fundus images and spectral-domain optical coherence tomography (SD-OCT; B-scan, ‘en-face’ and OCTA) were carried out for all patients. Choroid thickness was measured using enhanced depth imaging (EDI) mode. Colour fundus photographs, fundus fluorescein angiography (FFA) and indocyanine green angiography (ICGA) were not performed systematically. Optical coherence tomography angiography (OCTA) features of PNV are described and interpreted. Results: Five eyes of five patients with a mean age of 62.2&nbsp;years (range, 53–73&nbsp;years) presenting with PNV were analysed. They all presented pachychoroid pigment epitheliopathy (PPE) with choroidal thickening and dilated choroidal vessels as seen with EDI-OCT. Fluorescein angiography (FFA) was performed in three patients showing multiple areas of retinal pigment epithelium atrophy and fundus lesions suggestive of chronic central serous chorioretinopathy. Indocyanine green angiography (ICGA) in one patient confirmed the presence of large choroidal veins and choroidal hyperpermeability seen beneath the area of the neovascular tissue. Two eyes had the appearance of polypoidal structures within the neovascular tissue, with the characteristic aspect of the polypoidal lesions on B-scan and ‘en-face’. Optical coherence tomography angiography (OCTA) showed the appearance of tangled filamentous vascular network in all eyes. Conclusion: Optical coherence tomography angiography (OCTA) is a safe, highly sensitive and specific examination for the detection of type 1 neovascularization associated with PPE. Features are characteristic of tangled filamentous vessels overlying a focal area of thickened choroid

Photodynamic therapy for subfoveal classic choroidal neovascularization related to punctate inner choroidopathy (PIC) or presumed ocular histoplasmosis-like syndrome (POHS-like).

Purpose: To evaluate the safety and efficacy of photodynamic therapy with verteporfin (PDT) for subfoveal classic choroidal neovascularization (CNV) related to punctate inner choroidopathy (PIC) or presumed ocular histoplasmosis-like syndrome (POHS-like). Methods: Retrospective review of 16 eyes from 14 patients with subfoveal classic CNV associated with PIC or POHS-like and treated with PDT Results: The mean visual acuity increased from 4.5/10 (range: 1/10-9/10) to 7/10 (range: 2/10-10/10) after a mean follow-up of 21 months (range: 8-32 months) and a mean number of 2 PDT (range: 1-6). Visual acuity remained stable or improved in 13 of the 16 eyes (81%) and decreased in three. Conclusion: This nearly two-year follow-up study suggests that PDT could be helpful for patients with subfoveal classic CNV related to PIC or POHS-like. Copyright © Taylor & Francis Inc.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Venous overload choroidopathy: A hypothetical framework for central serous chorioretinopathy and allied disorders

In central serous chorioretinopathy (CSC), the macula is detached because of fluid leakage at the level of the retinal pigment epithelium. The fluid appears to originate from choroidal vascular hyperpermeability, but the etiology for the fluid is controversial. The choroidal vascular findings as elucidated by recent optical coherence tomography (OCT) and wide-field indocyanine green (ICG) angiographic evaluation show eyes with CSC have many of the same venous patterns that are found in eyes following occlusion of the vortex veins or carotid cavernous sinus fistulas (CCSF). The eyes show delayed choroidal filling, dilated veins, intervortex venous anastomoses, and choroidal vascular hyperpermeability. While patients with occlusion of the vortex veins or CCSF have extraocular abnormalities accounting for the venous outflow problems, eyes with CSC appear to have venous outflow abnormalities as an intrinsic phenomenon. Control of venous outflow from the eye involves a Starling resistor effect, which appears to be abnormal in CSC. Similar choroidal vascular abnormalities have been found in peripapillary pachychoroid syndrome. However, peripapillary pachychoroid syndrome has intervortex venous anastomoses located in the peripapillary region while in CSC these are seen to be located in the macular region. Spaceflight associated neuro-ocular syndrome appears to share many of the pathophysiologic problems of abnormal venous outflow from the choroid along with a host of associated abnormalities. These diseases vary according to their underlying etiologies but are linked by the venous decompensation in the choroid that leads to significant vision loss. Choroidal venous overload provides a unifying concept and theory for an improved understanding of the pathophysiology and classification of a group of diseases to a greater extent than previous proposals.Ophthalmic researc