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Purpose To assess the impact of the Covid-19 pandemic and subsequent lockdown on the number and clinical characteristics of patients with retinal detachment (RD) in a French public university eye hospital.Methods Single-center, retrospective non-interventional study. Patients consulting at the emergency room (ER) of Quinze-Vingts Hospital (France) for rhegmatogenous RD before and after instauration of the lockdown were reviewed. We compared the characteristics of patients with RD between the containment period (March17th - April27th,2020) and the period preceding the lockdown (February18th - March16th,2020). We compared the number of RD surgeries performed between the first month of lockdown (March17th - April19th,2020) and the corresponding period of 2019. Number of cases, delay between diagnosis and surgery, visual acuity was measured.Results During the first month of lockdown, 59 RDs were operated on, compared to 107 in the corresponding period in 2019 (-44,8%). Mean time from first symptoms to surgery was significantly higher during the lockdown 12.7 (11.3) days vs 7.6 (7.8) days (p = 0.031) before. During the lockdown, the mean BCVA was lower albeit the difference did not reach statistical significance (1.16 (0.9) during pre-containment vs 1.5 (0.9) during containment; p = 0.09). Reasonsfor delayed consultation were: fear of Covid-19 (31%; p = 0.0001), absence of referral doctor (31%; p = 0.003) and difficulties in getting to public transport (10.3%;p = 0.859).Conclusion Despite maintaining accessto emergency eye care facilitiesin our hospital, the lockdown affected visual health. Should the lockdown be reinstated, we postulate that a better information about eye care access for non-Covid emergencies may attenuate its effect on visual health.

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.ajo.2004.06.080 Byline: Michel Paques (a), Jean-Francois Girmens (a), Eva Riviere (a), Jose Sahel (a) Abstract: To report in four patients with retinal vein occlusion the presence of biomicroscopically visible circulation in the minor arterial circle of the iris, preceding rubeosis iridis in two cases. Author Affiliation: (a) Department of Ophthalmology of the Fondation Ophtalmologique Rothschild, Paris, France. Article History: Accepted 23 June 2004

Objective: To explore the hemodynamic changes and their correlation with clinical presentation during central retinal vein occlusion. Materials and Methods: Retrospective, 2-center study. The medical records of 27 patients with central retinal vein occlusion were reviewed. For each patient, the plasma transit in central retinal vessels and in peripapillary choroidal vessels was analyzed using indocyanine green videoangiography. Results: The incidence of alteration in retinal plasma transit, ie, pulsatile filling of arteries and/or veins and increased arteriovenous filling time, was inversely correlated to duration from the onset but not to funduscopic features. Among the 14 patients with less than 1 month's duration of symptoms, 3 developed chronic macular edema, and impairment of arterial flow preceded its onset. Among the 10 patients with opticociliary circulation, choroidal drainage routes were identified in 5 cases, with pulsatile filling in 3. Conclusions: Early in the course of central retinal vein occlusion, arterial and/or venous flow alterations are present, irrespective of visual acuity, vein dilation, or fundus hemorrhages. These alterations are less frequent in chronic than in recent-onset central retinal vein occlusion. The mechanisms of these alterations remain uncertain but may involve arterial constriction and/or intermittent venous compression. The relationship between these alterations in retinal flow and the secondary onset of macular edema or capillary nonperfusion deserves further investigation. Arch Ophthalmol. 2001;119:1781-1787

PURPOSE: To report the results of a prospective study of the incidence of peripheral visual field loss after macular hole surgery. METHODS: Prospectively, 30 eyes of 30 consecutive patients with full-thickness macular holes operated on between December 1995 and April 1996 had preoperative and postoperative Goldmann visual field tests. The surgical procedure consisted of three port pars plane vitrectomy, posterior hyaloid removal, nonexpansile fluid-hexafluoroethane ([C.sub.2] [F.sub.6]) exchange, and, in 19 of 30 patients, autologous platelet injection, followed by face-down positioning. RESULTS: Twenty-nine of these 30 cases were considered to be anatomic successes. Comparison of preoperative and postoperative visual fields disclosed that four patients (13%) had a peripheral scotoma, including one patient with stage 4 macular hole. Three other patients (10%) had a postoperative relative arcuate defect. Mean postoperative intraocular pressure was higher in the latter group. None of the patients complained of peripheral scotoma. CONCLUSIONS: Overall, seven of 30 patients (23%) had a postoperative visual field defect. Two categories of scotomas were observed: peripheral and relative arcuate. The cause of peripheral visual field loss is unclear. Increased intraocular pressure may be the cause of relative arcuate scotomas.

Effective and accurate in vivo diagnosis of retinal pathologies requires high performance imaging devices, combining a large field of view and the ability to discriminate the ballistic signal from the diffuse background in order to provide a highly contrasted image of the retinal structures. Here, we have implemented the partial-field illumination ophthalmoscope, a patterned illumination modality, integrated to a high pixel rate adaptive optics full-field microscope. This non-invasive technique enables us to mitigate the low signal-to-noise ratio, intrinsic of full-field ophthalmoscopes, by partially illuminating the retina with complementary patterns to reconstruct a wide-field image. This new, to the best of our knowledge, modality provides an image contrast spanning from the full-field to the confocal contrast, depending on the pattern size. As a result, it offers various trade-offs in terms of contrast and acquisition speed, guiding the users towards the most efficient system for a particular clinical application.

Laser Doppler holography (LDH) is a full-field blood flow imaging technique able to reveal human retinal and choroidal blood flow with high temporal resolution. We here report on using LDH in the anterior segment of the eye without making changes to the instrument. Blood flow in the bulbar conjunctiva and episclera as well as in corneal neovascularization can be effectively imaged. We additionally demonstrate simultaneous holographic imaging of the anterior and posterior segments by simply adapting the numerical propagation distance to the plane of interest. We used this feature to track the movements of the retina and pupil with high temporal resolution. Finally, we show that the light backscattered by the retina can be used for retro-illumination of the anterior segment. Hence digital holography can reveal opacities caused by absorption or diffusion in the cornea and eye lens.

Dans la maladie d’Alzheimer (MA), un amincissement et des modifications vasculaires de la rétine mesurés en tomographie par cohérence optique (OCT) sont décrits mais leur corrélation avec les marqueurs physiopathologiques est peu étudiée.

Le traitement du mélanome métastatique a connu récemment des innovations thérapeutiques majeures grâce au développement des thérapies ciblées anti-BRAF et anti-MEK chez les patients porteurs d’une mutation BRAF V600. Les associations vémurafenib+cobimetinib, dabrafenib+trametinib, et encorafenib+binimetinib, évaluées respectivement dans les études de phase III coBRIM, COMBI-d/COMBI-v et COLUMBUS, sont actuellement approuvées dans cette indication. Les toxicités associées aux combinaisons sont différentes de celles déjà connues avec les monothérapies, en termes de fréquence et de sévérité. Les médecins qui prennent en charge les patients atteints de mélanome sont donc confrontés à de nouvelles problématiques concernant la prévention, la détection et le traitement de ces effets indésirables. Cet article fait le point sur les données de tolérance issues des trois études pivotales (coBRIM, COMBI-v et COLUMBUS) et propose des recommandations de prise en charge spécifiques basées sur des avis d’experts. Les toxicités dermatologiques, ophtalmologiques, cardiovasculaires, digestives, musculosquelettiques, rénales et générales sont discutées et un calendrier de réalisation des examens complémentaires avant l’instauration et pendant le traitement anticancéreux est proposé.

AimsDuring diabetic macular oedema (DME), a spectrum of capillary abnormalities is commonly observed, ranging from microaneurysms to large microvascular abnormalities. Clinical evidence suggests that targeted photocoagulation of large microvascular abnormalities may be beneficial, but their detection is not done in a routine fashion. It was reported that they are better identified by indocyanine green angiography (ICGA) than by fluorescein angiography. Here, we investigated the prevalence and ICGA and optical coherence tomography (OCT) features of retinal microvascular abnormalities in a group of patients with DME.MethodsObservational study. The fundus photographs, ICGA and structural and angiographic OCT charts of 35 eyes from 25 consecutive patients with DME were reviewed.Results22 eyes (63%) had at least one focal area of microvascular abnormalities showing prolonged indocyanine green (ICG) staining (ie, beyond 10 mins after injection). In particular, all eyes (n=9) with circinate hard exudates showed foci of late ICG staining. These areas were either isolated globular capillary ecstasies or a cluster of ill-defined capillary abnormalities. They were located at a median distance of 2708 µm from the fovea (range: 1064–4583 µm). Their diameter ranged from 153 to 307 µm. During ICGA, 91% showed increased their contrast and apparent size in late frames, whereas 79% of microaneurysms showed reduced contrast on late frames. OCT angiography was not contributive for the detection of these lesions.ConclusionLate ICG staining revealing large microvascular abnormalities is commonly observed during DME. Because of their specific angiographic and OCT features relative to microaneurysms, we propose to name them telangiectatic capillaries (TelCaps).

Supplemental Digital Content is available in the text.

Image-based angiography is a well-adapted technique to characterize vasculature, and has been used in retinal neurovascular studies. Because the microvasculature is of particular interest, being the site of exchange between blood and tissue, a high spatio-temporal resolution is required, implying the use of adaptive optics ophthalmoscopes with a high frame rate. Creating the opportunity for decoupled stimulation and imaging of the retina makes the use of near infrared (NIR) imaging light desirable, while the need for a large field of view and a lack of distortion implies the use of a flood illumination-based setup. However, flood-illumination NIR video sequences of erythrocytes, or red blood cells (RBC), have a limited contrast compared to scanning systems and visible light. As a result, they cannot be processed via existing image-based angiography methods. We have therefore developed a new computational method relying on a spatio-temporal filtering of the sequence to isolate blood flow from noise in low-contrast sequences. Applying this computational approach enabled us to perform angiography with an adaptive optics flood illumination ophthalmoscope (AO-FIO) using NIR light, both in bright-field and dark-field modalities. Finally, we demonstrate the capabilities of our system to differentiate blood flow velocity on a retinal capillary network in vivo.

In this Letter, we propose a way to better understand the impact of dynamic ocular aberrations in the axial resolution of nonconfocal adaptive optics (AO) ophthalmoscopes via a simulation of the 3D PSF in the retina for various AO-loop rates. We then use optical incoherence tomography, a method enabling the generation of tomographic retinal cross sections in incoherent imaging systems, to evaluate the benefits of a fast AO-loop rate on axial resolution and, consequently, on AO-corrected retinal image quality. We used the PARIS AO flood-illumination ophthalmoscope for this study, where retinal images from different focal planes at an AO-loop rate of 10 and 50 Hz were acquired.

The choroid is a highly vascularized tissue supplying the retinal pigment epithelium and photoreceptors. Its implication in retinal diseases is gaining increasing interest. However, investigating the anatomy and flow of the choroid remains challenging. Here we show that laser Doppler holography provides high-contrast imaging of choroidal vessels in humans, with a spatial resolution comparable to state-of-the-art indocyanine green angiography and optical coherence tomography. Additionally, laser Doppler holography contributes to sort out choroidal arteries and veins by using a power Doppler spectral analysis. We thus demonstrate the potential of laser Doppler holography to improve our understanding of the anatomy and flow of the choroidal vascular network.

We demonstrate near-infrared autofluorescence (NIRAF) imaging of retinal pigment epithelial (RPE) cells in vivo in healthy volunteers and patients using a 757 nm excitation source in adaptive optics scanning laser ophthalmoscopy (AOSLO). NIRAF excited at 757 nm and collected in an emission band from 778 to 810 nm produced a robust NIRAF signal, presumably arising from melanin, and revealed the typical hexagonal mosaic of RPE cells at most eccentricities imaged within the macula of normal eyes. Several patterns of altered NIRAF structure were seen in patients, including disruption of the NIRAF over a drusen, diffuse hyper NIRAF signal with loss of individual cell delineation in a case of non-neovascular age-related macular degeneration (AMD), and increased visibility of the RPE mosaic under an area showing loss of photoreceptors. In some participants, a superposed cone mosaic was clearly visible in the fluorescence channel at eccentricities between 2 and 6° from the fovea. This was reproducible in these participants and existed despite the use of emission filters with an optical attenuation density of 12 at the excitation wavelength, minimizing the possibility that this was due to bleed through of the excitation light. This cone signal may be a consequence of cone waveguiding on either the ingoing excitation light and/or the outgoing NIRAF emitted by fluorophores within the RPE and/or choroid and warrants further investigation. NIRAF imaging at 757 nm offers efficient signal excitation and detection, revealing structural alterations in retinal disease with good contrast and shows promise as a tool for monitoring future therapies at the level of single RPE cells.

Objective: To assess the reproducibility of retinal thickness measurement using commercially available mapping software of optical coherence tomography (OCT). Methods: Six radial scans, 6 mm long and centered on the fixation point, were performed on 10 eyes of 10 healthy volunteers and 10 eyes of 10 diabetic patients with clinically significant macular edema. Retinal thickness was measured automatically using the mapping software of OCT in the 9 macular Early Treatment Diabetic Retinopathy Study areas and in a central area 500 [micro]m in diameter. Measurement reproducibility was tested by means of 3 series of scans performed by 2 different observers on 2 different days. Results were assessed by their repeatability and intraclass correlation coefficients (ICCs). Results: In healthy subjects, intraobserver, interobserver, and intervisit reproducibility of retinal thickness measurements were excellent, with a repeatability coefficient of less than 7 [micro]m and ICCs of greater than 0.89. In diabetic patients, the repeatability coefficient was less than 21 [micro]m in all areas of the macula except one, with an ICC of greater than 0.98. Relative variations in measurements were small in both healthy and diabetic subjects, with reproducibilities of [+ or -] 5% and [+ or -] 6%, respectively. Conclusion: Retinal mapping software of OCT allows reproducible measurement of retinal thickness in both healthy subjects and diabetic patients with macular edema. Arch Ophthalmol. 2001;119:1135-1142

Background: Maternally inherited diabetes and deafness (MIDD), which is seen in 0.5% to 2.8% of patients with type 2 diabetes mellitus, is related to a point mutation at position 3243 of mitochondrial (mt) DNA. Its clinical description is incomplete. Objective: To study the clinical presentation and complications of diabetes in patients with MIDD and to identify clinical characteristics that may help select diabetic patients for mtDNA mutation screening. Design: Multicenter prospective descriptive study. Setting: 16 French departments of internal medicine, diabetes and metabolic diseases, or both. Patients: 54 patients with type 2 diabetes mellitus and the mtDNA 3243 mutation. Measurements: Characteristics of diabetes, metabolic control (glycosylated hemoglobin level), complications of diabetes, and involvement of other organs. Results: On average, patients with MIDD were young at diabetes onset and presented with a normal or low body mass index. None were obese. Seventy-three percent of probands had a maternal family history of diabetes. Diabetes was non-insulin-dependent at onset in 87% of patients; however, 46% of patients had non-insulin-dependent disease at onset but progressed to insulin therapy after a mean duration of approximately 10 years. Neurosensory hearing loss was present in almost all patients. Eighty-six percent of patients who received an ophthalmologic examination had macular pattern dystrophy (a specific retinal lesion). Forty-three percent of patients had myopathy, 15% had cardiomyopathy, and 18% (9 of 51) had neuropsychiatric symptoms. Although the prevalence of diabetic retinopathy was 8% among patients who received an ophthalmologic examination, lower than expected after a mean 12-year duration of diabetes, prevalence of kidney disease was 28%. This suggests that a specific renal involvement was the result of mitochondrial disease. Conclusions: Maternally inherited diabetes and deafness has a specific clinical profile that may help identify diabetic patients for mtDNA testing.

The design and performance of an adaptive optics flood illumination ophthalmoscope (AO-FIO) platform, based on eye motion and dynamic aberrations experimental analysis, are described. The system incorporates a custom-built real-time controller, enabling up to 70 Hz loop rate without jitter, and an AO-corrected illumination capable of projecting high-resolution features in the retina. Wide-field (2.7°×5.4°) and distortionless images from vessel walls, capillaries, and the lamina cribrosa are obtained with an enhanced contrast and signal-to-noise ratio, thanks to careful control of AO parameters. The high spatial and temporal resolution (image acquisition up to 200 Hz) performance achieved by this platform enables the visualization of vessel deformation and blood flow. This system opens up the prospect of a return to favor of flood illumination adaptive optics systems provided that its high pixel rate and structured illumination capabilities are exploited.

To evaluate the contribution of fixational eye movements to dynamic aberration, 50 healthy eyes were examined with an original custom-built Shack-Hartmann aberrometer, running at a temporal frequency of 236Hz, with 22 lenslets across a 5mm pupil, synchronized with a 236Hz pupil tracker. A comparison of the dynamic behavior of the first 21 Zernike modes (starting from defocus) with and without digital pupil stabilization, on a 3.4s sequence between blinks, showed that the contribution of fixational eye movements to dynamic aberration is negligible. Therefore we highlighted the fact that a pupil tracker coupled to an Adaptive Optics Ophthalmoscope is not essential to achieve diffraction-limited resolution.

We formed a database gathering the wavefront aberrations of 50 healthy eyes measured with an original custom-built Shack-Hartmann aberrometer at a temporal frequency of 236 Hz, with 22 lenslets across a 7-mm diameter pupil, for a duration of 20 s. With this database, we draw statistics on the spatial and temporal behavior of the dynamic aberrations of the eye. Dynamic aberrations were studied on a 5-mm diameter pupil and on a 3.4 s sequence between blinks. We noted that, on average, temporal wavefront variance exhibits a n^−2 power-law with radial order n and temporal spectra follow a f^−1.5 power-law with temporal frequency f. From these statistics, we then extract guidelines for designing an adaptive optics system. For instance, we show the residual wavefront error evolution as a function of the number of corrected modes and of the adaptive optics loop frame rate. In particular, we infer that adaptive optics performance rapidly increases with the loop frequency up to 50 Hz, with gain being more limited at higher rates.

Our eyes are constantly in motion, even during “steady” fixation. In ophthalmic systems equipped with wavefront technology, both eye and head motion potentially degrade its performance and/or increase the cost and complexity, as they induce a movement of the entrance optical pupil of the system. Here, we characterize the pupil motion in an aberrometry setting, using a custom, high-speed pupil tracker (478 Hz), and draw conclusions on design considerations of future ophthalmic systems. We also demonstrate the feasibility of tracking such motion directly with a custom-built Hartmann–Shack sensor (236 Hz) using a method that offers certain benefits over previously suggested approaches, thereby paving the way to an efficient and cost-effective approach.

AimsIn longstanding diabetic macular oedema (DME) or retinal vein occlusion (RVO), capillary macroaneurysms may develop. Indocyanine green angiography (ICGA) has been shown to optimise their detection. Here, we report the anatomical and functional outcome of the elective photocoagulation of capillary macroaneurysms.MethodsA retrospective, interventional, two-centre study. In eyes with chronic macular oedema and severe hard exsudates due to diabetic retinopathy or RVO, the presence of capillary macroaneurysms (defined by a diameter larger than 150 µm) was assessed by ICGA and optical coherence tomography (OCT). Capillary macroaneurysms were selectively photocoagulated, the presence of photothrombosis within the lumen being assessed by immediate OCT.ResultsFour eyes from three patients with DME and five eyes from five patients with RVO were included. The median duration of visual loss was 4 years. Median initial visual acuity (VA) was 20/200. The median number of capillary macroaneurysms per eye was 2 (range, 1–8) and their median size was 410 µm (range, 154–603). Six months after photocoagulation, there was a significant reduction in macular thickness (mean±SD, 528 µm±200 vs 271 µm±152, p<0.05) and improvement of VA (mean log MAR, 0.82 vs 0.58, p<0.05).ConclusionsDuring macular oedema with severe hard exsudates due to DME or RVO, systematic detection of capillary macroaneurysms by ICGA followed by their OCT-controlled photocoagulation may be of interest. These results may contribute to re-evaluate the role of photocoagulation in the management of longstanding macular oedema.

BACKGROUND AND OBJECTIVE:To analyze cone mosaic metrics on adaptive optics (AO) images as a function of retinal eccentricity in two different age groups using a commercial flood illumination AO device.PATIENTS AND METHODS:Fifty-three eyes of 28 healthy subjects divided into two age groups were imaged using an AO flood-illumination camera (rtx1; Imagine Eyes, Orsay, France). A 16° × 4° field was obtained horizontally. Cone-packing metrics were determined in five neighboring 50 µm × 50 µm regions. Both retinal (cones/mmFifty-three eyes of 28 healthy subjects divided into two age groups were imaged using an AO flood-illumination camera (rtx1; Imagine Eyes, Orsay, France). A 16° × 4° field was obtained horizontally. Cone-packing metrics were determined in five neighboring 50 µm × 50 µm regions. Both retinal (cones/mm2and µm) and visual (cones/degrees2and arcmin) units were computed.RESULTS:Results for cone mosaic metrics at 2°, 2.5°, 3°, 4°, and 5° eccentricity were compatible with previous AO scanning laser ophthalmoscopy and histology data. No significant difference was observed between the two age groups.CONCLUSIONS:The rtx1 camera enabled reproducible measurements of cone-packing metrics across the extrafoveal retina. These findings may contribute to the development of normative data and act as a reference for future research.[[Ophthalmic Surg Lasers Imaging Retina.2017;48:45–50.]

Supplemental Digital Content is available in the text

Supplemental Digital Content is Available in the Text.In early macular telangiectasia type 2, cone density was lower than normal even outside the area of telangiectasia, although the ellipsoid zone remained intact on optical coherence tomography. Cone outer segment impairment might be secondary to Müller cell or rod loss in the macular area.

Optical coherence tomography angiography showed that the deep capillary plexus was organized into polygonal units that converged into capillary vortexes, aligned along the course of the macular superficial venules. This topographic arrangement highly suggests that the deep capillary vortexes drain into the superficial venules.

IMPORTANCE: Arteriovenous nickings (AVNs) in the retina are the cause of retinal vein occlusions and are also surrogates of cerebrovascular aging. The prevalent mechanistic model of AVNs stating that arteries crush veins remains somewhat unchallenged despite the lack of evidence other than fundus photographs. Here, we observed that venous nicking may be observed in the absence of physical contact with an arteriole. OBSERVATIONS: This observational study, conducted from January 2013 to September 2014, included 7 patients showing remodeling of a venous segment close to a retinal arteriole without arteriovenous overlap were imaged by adaptive optics imaging. Affected venous segments showed a variable association of nicking, narrowing, deviation, and opacification. Venous segments were deviated toward the arterioles in 6 of the 7 cases. The degree of venous narrowing ranged from 40% to 77%, while at these sites, the width of the intervascular space ranged from 16 µm to 42 µm. Similar features were identified in typical AVNs. CONCLUSIONS AND RELEVANCE: Arteriovenous nickings do not necessarily involve an arteriovenous compression. Instead, the topology of venous changes suggests a retractile process originating in the intervascular space. These findings have important implications for the understanding of retinal vein occlusions and of cerebrovascular aging.

Here, for the first time, the authors observed and measured by high-resolution imaging Gunn's dots, which are small glistening dots seen in normal fundi. Their density, size, and age-related decreasing density challenge the concept of their Müllerian origin; alternative candidate cells are hyalocytes.

The wall-to-lumen ratio (WLR) of retinal arteries is a recognized surrogate of end-organ damage due to aging andor arterial hypertension. However, parietal morphometry remains difficult to assess in vivo. Recently, it was shown that adaptive optics retinal imaging can resolve parietal structures of retinal arterioles in humans in vivo. Here, using adaptive optics retinal imaging, we investigated the variations of parietal thickness of small retinal arteries with blood pressure and focal vascular damage.

Purpose During perfused retinal vein occlusions, patchy retinal opacification due to acute neuronal swelling may be present. This may be difficult to document using conventional imaging techniques.Methods Three-dimensional topography of focal retinal opacification was documented in a patient with hemiretinal vein occlusion by combining en face adaptive optics (AO) imaging with high-resolution optical coherence tomography (OCT).Results Patchy retinal opacification in the macula was faintly visible by color fundus photography with no angiographic correlation. Adaptive optics and OCT imaging showed that these areas were located in the plexiform layers while the nerve fiber layer remained spared. During follow-up, visual acuity returned to 20/20 with normalization of fundus features and of AO imaging. At last examination, optical coherence tomography showed thinning of the inner nuclear layer in the area previously opacified.Conclusions Patchy retinal opacification that may be observed at the acute phase of perfused central retinal vein occlusion corresponds to ischemic opacification of intermediary neurons within the inner nuclear and inner plexiform layers.

The COL4A1gene encodes the α1‐chain of type IV collagen, which is ubiquitously expressed in basement membranes. Mutations in COL4A1have been reported in autosomal‐dominant porencephaly and in patients with symptomatic small vessel brain disease, inconstantly associated with eye defects. We have previously reported three COL4A1mutations associated with a systemic phenotype that we called HANAC (Hereditary Angiopathy, Nephropathy, Aneurysms, and Cramps). We carried out a clinical and genetic study of three families presenting with characteristic features of HANAC syndrome. Common systemic signs included arterial retinal tortuosity and muscle cramps, with a variable combination of small vessel brain disease, Raynaud phenomena, and kidney defects. Three novel COL4A1missense substitutions are described, which affect highly conserved glycine residues within the collagenous domain of the protein. All six known mutations associated with the HANAC phenotype are localized within the CB3[IV] fragment of COL4A1, which encompasses major integrin‐binding sites. Our results confirm that HANAC syndrome is a distinct clinical entity within the COL4A1‐related disorders, which is characterized by systemic involvement and usually asymptomatic brain disease. The restricted distribution of COL4A1mutations within the CB3[IV] region is a characteristic of the reports of patients with HANAC, which suggests that abnormal cell‐type IV collagen interactions may underlie the systemic defects observed in this syndrome. © 2010 Wiley‐Liss, Inc.

• Background: To improve the anatomic success rate in the surgery of full-thickness macular holes, we tested, in a prospective pilot study, the effects of autologous platelet concentrate deposited on the macula at the end of surgery. • Methods: Two consecutive groups of patients were compared. Twenty eyes (group 1, mean symptom duration 11 months) were operated on with injection of an autologous platelet concentrate on the macula after fluid-gas exchange. Another 20 eyes (group 2, mean symptom duration 11 months) were subsequently operated on without autologous platelet concentrate. For all stage 3 holes, posterior hyaloid was detached en bloc at the level of the optic disc. The patient was left supine for 24 h after surgery, and then remained face down for 10 days. • Results: In group 1, 19 cases were an anatomic success, i.e. there was flattening of the retina surrounding the hole and reattachment of the edge of the hole to the retinal pigment epithelium; in 9 cases the hole was even undetectable. Final visual acuity was 0.5 or more in 9 eyes, and 0.4 or more in 14. Visual acuity improved by two lines or more in 17 of the 19 successfully operated eyes. In group 2, only 13 cases were an anatomic success. The functional results for the successfully operated eyes were identical to those of group 1. • Conclusion: These results strongly suggested that autologous platelet concentrate could significantly improve the success rate in macular hole surgery and led us to begin a comparative, prospective, randomized trial.