Lamellar Hole-associated Epiretinal Proliferation in choroideremia: a case report.

BACKGROUND: To report a clinical case of a patient affected with choroideremia (CHM) who underwent macular surgery for a macular hole (MH) with Lamellar Hole-associated Epiretinal Proliferation (LHEP). CASE PRESENTATION: We have described a 48-year-old male patient affected with CHM who developed MH with LHEP over a 7-year follow-up. The patient was referred to the Regional Center for Hereditary Retinal Degenerations of the Eye Clinic in Florence (Italy) in April 2012. The patient underwent vitrectomy and Inner Limiting Membrane (ILM) and LHEP peeling with fluid-air exchange. Ultra-structural examination of the excised epiretinal proliferation, carried out using electron microscopy, showed dense amorphous material, mainly composed of abundant clusters of fibrous collagens resembling compact fibrous long spacing collagen (FLSC), embedded in native vitreous collagen (NVC) and type IV collagen. No cells were detected in any of the specimens collected. At the 3rd-week postoperative follow-up the macular hole was closed. CONCLUSION: Macular hole with LHEP can be detected in CHM patients; in our patient the macular hole showed tractional and degenerative features, with good anatomical results after macular surgery.

Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.

Purpose: To describe genetic analysis, treatment results, and complications of patients affected by retinal capillary hemangioblastoma (RCH) in von Hippel Lindau (VHL) syndrome. Methods: We collected 17 patients with VHL syndrome, who underwent a molecular test and an ophthalmic evaluation at the Eye Clinic of the University Hospital of Florence from January 2005 to February 2020. We focused on eyes showing RCHs examined using color fundus photographs, fluorescein angiography, and optical coherence tomography. Results: Eight eyes of six patients (6/17; 35%) showed RCHs at the fundoscopic examination. All RCHs were treated with laser therapy. Three eyes underwent episcleral surgery, one eye showing vitreous hemorrhage received three intravitreal (IV) anti-VEGF injections and three cryotherapy procedures, and one eye underwent vitrectomy. In patients with RCHs, five were characterized by a truncating mutation of the VHL protein, and one patient showed a missense mutation. We have reported two VHL mutations not reported in literature. Conclusions: Patients with multiple RCHs, who developed RCH secondary effects, showed truncating mutations of the VHL protein. We recommend early screening and close monitoring, especially if RCHs are detected at presentation, for every patient with VHL syndrome independently of the results of the molecular test for a missense or a truncating mutation in VHL.

Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum.

PURPOSE: To describe the retinal findings of patients affected by pseudoxanthoma elasticum (PXE) using a multimodal imaging approach including flood-illumination adaptive optics ophthalmoscopy (AO). DESIGN: Retrospective case series. MATERIALS AND METHODS: Patients affected by PXE were retrospectively studied. Clinical data, color, infrared and autofluorescence fundus imaging, optical coherence tomographic scans, and AO examinations were collected. Furthermore, the photoreceptor count was assessed. PXE diagnosis was confirmed by a positive skin biopsy and/or genetic testing. RESULTS: Twenty-one eyes of 18 patients (11 females and 7 males) were included in the study. In 3 patients, both eyes were studied. The mean age at examination was 37.7 ± 16.4 years (range 14-66) and the mean best-corrected visual acuity (BCVA) was 0.1 ± 0.2 logMAR (range 0-1). We identified 3 types of angioid streaks (AS) using AO: "crack," "band," and "hypopigmented." The first 2 were very similar and they differed in size; the third type showed specific clinical features. Comet lesions appeared as hyper-reflective round lesions on AO imaging. In all eyes, the cone mosaic appeared reduced inside the streaks compared to the neighboring areas (13,532.8 ± 1,366.5 cones/mm2 vs 16,817.1 ± 1,263.0 cones/mm2 respectively). CONCLUSION: Using AO imaging in PXE-related retinopathy, we were able to observe the presence of the photoreceptors within the angioid streaks, differentiate 3 types of angioid streaks, based on size and reflective features, and identify the very small crystalline bodies not identifiable using other retinal imaging techniques.

Subthreshold yellow micropulse laser for treatment of diabetic macular edema: Comparison between fixed and variable treatment regimen.

PURPOSE: To compare the efficacy between fixed and variable treatment regimens of subthreshold yellow micropulse laser for the treatment of diabetic macular edema. METHODS: This is a retrospective, comparative, 12-month study of 39 eyes: 24 eyes received fixed treatment regimen of subthreshold micropulse laser treatment and 15 eyes underwent variable treatment regimen of subthreshold micropulse laser, all eyes were followed up for 12 months. Subthreshold micropulse laser was performed with the following parameters: 100 µm spot size on slit lamp, 5% duty cycle of 0.2 s, and 250 mW power. To choose the power of the variable treatment regimen of subthreshold micropulse laser group, continuous laser power was titrated to a barely visible burn and then switched to MicroPulse mode, multiplying the test burn power by 4 and using a 5% duty cycle of 0.2 s. Main outcomes included changes in central macular thickness and best-corrected visual acuity. RESULTS: At baseline, the mean LogMAR best-corrected visual acuity was 0.297 ± 0.431 in the variable treatment regimen of subthreshold micropulse laser group and 0.228 ± 0.341 in the fixed treatment regimen of subthreshold micropulse laser group. At the end of follow-up, the mean LogMAR best-corrected visual acuity was 0.289 ± 0.473 (p = 0.785) and 0.245 ± 0.376 (p = 0.480) in the variable and fixed treatment regimens of subthreshold micropulse laser groups, respectively. Similarly, central macular thickness decreased in both groups after treatment; at baseline, the mean central macular thickness was 371.06 ± 37.8 in the variable treatment regimen of subthreshold micropulse laser group and improved to 325.60 ± 110.0 µm (p = 0.025) at the end of the follow-ups, while it was 342.30 ± 35.4 in the fixed treatment regimen of subthreshold micropulse laser group and improved to 308.51 ± 67.5 (p = 0.037). CONCLUSION: Both treatment regimens are effective for the treatment of mild center-involving diabetic macular edema: fixed treatment appears more suitable minimizing treatment time and reducing the possible errors due to wrong titration in the switch from continuous to micropulse mode.

Long-term follow-up and "double layer sign" in patients affected by circumscribed choroidal hemangioma.

BACKGROUND: Photodynamic therapy has revolutionised the treatment of circumscribed choroidal hemangiomas. The aim of this report is to report the long-term follow-up of patients affected by circumscribed choroidal hemangioma treated using photodynamic therapy. MATERIALS AND METHODS: We retrospectively reviewed patients affected by circumscribed choroidal hemangioma examined at the Retinal Medical Department at the Eye Clinic in Florence. We studied circumscribed choroidal hemangiomas treated using photodynamic therapy with at least 1 follow-up examination. Verteporfin was administered intravenously for 10 min (6 mg/m2 body surface area). After infusion (5 min), a 689 nm laser was applied with a light dose of 50 J/cm2. RESULTS: Ten eyes of 10 patients with circumscribed choroidal hemangioma who underwent Photodynamic therapy were included in our series (2 females and 8 males; average age at diagnosis 47.8 ± 9.3 yrs.; age range: 27-56 years). Five patients (5/10; 50 %) received only the photodynamic treatment whereas 5 patients (5/10; 50 %) also received other treatments (laser photocoagulation, intravitreal injection). On average, the patients received 2 photodynamic treatments (range 1-4). Four patients (4/10, 40 %) had a > 5-year follow-up; (average 4.5 ± 3.7 yrs. range 6 months - 10 years). In 2 patients we identified the "double layer sign" at the optical coherence tomography examination on circumscribed choroidal hemangioma. CONCLUSIONS: In our series, photodynamic therapy was a safe and effective treatment for circumscribed choroidal hemangioma during long-term follow-up. The double layer sign, which can be detected in several choroidal pathologies, suggests common pathogenetic mechanisms for circumscribed choroidal hemangiomas and central serous chorioretinopathy/polypoidal choroidopathy spectrum disease.

Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum.

PURPOSE: To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE). MATERIALS AND METHODS: This is a retrospective case series of 62 eyes of 31 elderly PXE patients (age > 50 years). Clinical data, ultra-widefield fundus imaging (color, red-free (RF), infra-red imaging (IR), fundus autofluorescence (FAF)), and OCT examinations were collected. Diagnosis was confirmed by genetic testing or skin biopsy. RESULTS: Thirty-one patients (10 males and 21 females (mean age 61.3 years, range 50-74 years)) were included in our study. Visual acuity ranged from 20/20 Snellen equivalent to 20/200. The mean follow-up was 66.4 ± 20.7 months (range 10-88). Pattern dystrophy-like changes (PD) (52 eyes of 26 patients, 83.8%) and atrophy resembling the "diffuse trickling" pattern described in geographic atrophy were present in the majority of patients. Twenty-three eyes of 12 patients (67.6%) had peripapillary atrophy, 9 eyes of 5 patients (26.4%) macular atrophy, 6 eyes of 3 patients (17.6%) displayed posterior pole atrophy and in 6 eyes of 3 patients (17.6%), atrophy could be detected beyond the vascular arcades (mid-peripheral atrophy). End-stage atrophy covered the entire area indicated as "coquille d'oeuf" (eggshell). Choroidal neovascularization occurred in 49 eyes of 26 patients (94.2%) with PD and in 6 eyes of 3 patients (60%) without PD. Genetic examinations were available for 29 patients (29/31, 93.5%). CONCLUSIONS: The elderly PXE patients were characterized by pattern dystrophy-like changes with more or less extensive atrophy, progressive over time, which in some cases affected the whole area of the coquille d'oeuf during the course of the disease.

Peripheral retinal neovascularization in a patient with pilocytic astrocytoma.

We described a case of papilledema complicated by peripheral retinal vessels in a 12-year-old boy affected by cerebellar astrocytoma. Opportunity to treat with photocoagulation or intravitreal anti-VEGF (vascular endothelial growth factor) injections was discussed with the parents and no treatment was done. After 5 years from surgery, retinal neovascularization was stable without vitreal hemorrhages or retinal complications, more specifically fibrosis of the neovessels increased and leakage phenomena were reduced at the fluorescein angiography. To our knowledge, this is a unique case of papilledema complicated by peripheral retinal vessels in a patient affected by cerebellar astrocytoma.

IOL repositioning using iris sutures: a safe and effective technique.

This retrospective non-comparative consecutive case series study was conducted at Azienda Ospedaliera Universitaria Careggi, Florence, Italy and describes a useful intraocular lens (IOL) repositioning technique using iris sutures. In our study, 41 consecutive cases of posteriorly dislocated IOLs were surgically treated between January 2015 and May 2017. Six of the cases were post-traumatic luxations, and 20 patients had pseudoexfoliation syndrome. All the patients underwent pars plana vitrectomy and same IOL repositioning using iris sutures. The mean follow-up was 12.2mo. The mean preoperative best corrected visual acuity (BCVA) was 0.10±0.15 logMAR, whereas the mean postoperative BCVA was 0.08±0.14 logMAR. The mean postoperative BCVA did not change significantly from the preoperative BCVA. The final mean spherical equivalent was -0.44±0.49 SD. Three lenses (7.31%) were found tilted during post-operative follow-up. Two eyes (4.87%) had postoperative cystoid macular edema. No eyes had endophthalmitis, hypotony, retinal or choroidal detachment. The iris fixation technique seems to be a safe and valid option for the management of dislocated IOLs.

Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).

PURPOSE: To investigate the prevalence and features of cystoid spaces (CS) in patients with confirmed genetic diagnosis of choroideremia (CHM) using swept source optical coherence tomography (OCT). METHODS: We retrospectively reviewed CHM patients examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration genetically confirmed CHM patients with ophthalmological and swept source optical coherence tomography (OCT) examinations. The presence/absence and location of cystoid spaces in the retina of each eye were reported. RESULTS: A total of 42 eyes of 21 CHM patients were included in our series. The average age of the patients was 36.5 ± 20.1 (range, 13-73 years). The average best-corrected visual acuity (BCVA) for all patients was 0.63 ± 1.00 logMar (range, 0-2,80). CS were present in 15 eyes of eight patients (8/21, 38%). In all cases, CS were located in inner nuclear layer (INL); in five eyes of three patients, CS were detected also in ganglion cell layer (GCL). CS appeared as microcistoyd abnormalities and were detected in retinal areas characterized by retinal pigment epithelium (RPE) and outer retinal layers atrophy at the transition zone. CONCLUSIONS: Cystoid spaces in choroideremia showed peculiar features; they are clusters of small-size extrafoveal degenerative cysts mainly located in inner nuclear layer at the transition zone where outer retinal layers and RPE are severely damaged.

OCTA Imaging of Choroidal Neovascularization Treated Using Photodynamic Therapy in a Young Patient With Best Macular Dystrophy.

This study reports the onset of a choroidal neovascularization (CNV) in a young patient affected with Best macular dystrophy (BMD) using optical coherence tomography angiography (OCTA) and describes its changes after photodynamic therapy (PDT). In the patient's right eye (OD), OCTA scans demonstrated a large, tangled, and well-demarcated vascular network at the outer retinal (OR) and choriocapillaris (CC) layers. Best-corrected visual acuity (BCVA) was 20/40 OD. Twenty days after PDT, BCVA OD improved (20/30), and the macular hemorrhage was significantly reduced. OCTA showed regression of the vascular network both in the OR and CC layers, with a significant reduction of the internal anastomosis and connection in absence of ischemic complication at the choriocapillaris. The authors concluded that OCTA is the best imaging technique for precise diagnosis and follow-up of the choroidal neovascularization in children affected with BMD. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:969-973.].

Long-Term Follow-Up of an Atypical Case of Idiopathic Macular Telangiectasia.

The authors present a 6-year follow-up of an atypical case of idiopathic macular telangiectasia (IMT) type 1 in a 67-year-old man treated with intravitreal injections of anti-vascular endothelial growth factor (VEGF) and subthreshold micropulse yellow laser. In this case, the authors detected a bilateral idiopathic macular telangiectasia. The right eye was characterized by a severe cystoid macular edema, whereas in the left eye, small cysts with small pseudovitelliform macular lesion were detected. Anti-VEGF intravitreal injections were performed in absence of functional or anatomical results in the right eye. After a single subthreshold micropulse yellow laser treatment, the authors reported an important reduction of intraretinal cysts with the restoration of the foveal depression in the right eye. During the follow-up, the left eye remained stable. To the authors' knowledge, this is the first reported case of macular telangiectasia with a such long optical coherence tomography follow-up treated using micropulse yellow laser. The follow-up examination is fundamental to disentangle atypical cases, especially in these conditions in which there is an overlap of different clinical elements. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e278-e283.].

Long-term follow-up of a CRB1-associated maculopathy.

PURPOSE: To report a long-term follow-up of a CRB1-associated maculopathy. METHODS: A case report. RESULTS: A 47-year-old man was diagnosed with bilateral maculopathy. The clinical picture and the foveoschisis abnormalities present in the right eye were consistent with X-linked retinoschisis. During the follow-up we observed the spontaneous passage from a foveal schitic shape to a cystic profile and then to atrophic maculopathy. Two pathogenic CRB1 mutations were detected and he was subsequently diagnosed with CRB1-associated maculopathy. CONCLUSIONS: Our clinical case allowed us to observe three different stages in the natural history of this particular CRB1-associated macular phenotype: a foveoschisis phenotype, cystoid macular abnormalities involving outer and inner retinal layers and macular atrophy. CRB1 mutations may be a rare cause of foveal schisis which progressively evolves in atrophic maculopathy and the clinician should be aware of this unusual macular phenotype.

Role of Lamellar Hole-Associated Epiretinal Proliferation in Lamellar Macular Holes.

PURPOSE: To compare the morphologic and functional characteristics and response to surgery of lamellar macular holes (LMHs) with and without lamellar hole-associated epiretinal proliferation (LHEP) and standard epiretinal membrane (ERM). DESIGN: Retrospective observational case series. METHODS: Setting: Vitreoretinal clinical practice. STUDY POPULATION: Eigthy-four eyes of 84 patients. The included eyes must present an irregular foveal contour and schitic or cavitated lamellar separation of neurosensory retina on spectral-domain optical coherence tomography (SDOCT) and an area of increased autofluorescence on blue fundus autofluorescence (B-FAF). Twenty-six eyes underwent pars plana vitrectomy (PPV). MAIN OUTCOME MEASURES: Logarithm of minimum angle of resolution (logMAR) best-corrected visual acuity (BCVA) and evolution of morphologic characteristics. RESULTS: Standard ERM alone, LHEP alone, and concomitant ERM and LHEP were found in 51.2%, 13.1%, and 35.7% of the cases, respectively. A substantial stability of functional and morphologic parameters throughout the follow-up period was observed in the eyes that did not undergo surgery indipendently from the associated epiretinal material. The most significant change, observed in the preoperative period, in the eyes that underwent surgery, was the thinning of the central foveal thickness (CFT, P < .001). In the operated eyes, logMAR BCVA continuosly improved during the postoperative period (P = .006), CFT was found increased, and diameters of the hole were found reduced since the first month after operation (P < .001). CONCLUSIONS: In eyes with LMHs, presence of LHEP without any trace of standard ERM is rare. The presence of LHEP does not seem to influence the natural course of the disease and the response to surgery.