The Role of the Choroid in Stargardt Disease.

Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment epithelium and photoreceptors. Many studies have also highlighted the importance of the choroid in the diagnosis, pathophysiology, and progression of the disease. The choroid is in an integral relationship with the retinal pigment epithelium and photoreceptors, and its possible involvement during the disease should be considered. The purpose of this review is to analyze the current diagnostic tools for choroidal evaluation and the extrapolation of useful data for ophthalmologists and researchers studying the disease.

An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Hereditary haemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber syndrome is a rare autosomal dominant disease, characterised by systemic angiodysplasia. Dysfunction of the signalling pathway of ß transforming growth factor is the main cause of HHT principally owing to mutations of the genes encoding for endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1). Clinical manifestations can range from mucocutaneous telangiectasia to organ arterio-venous malformations and recurrent epistaxis. The early clinical manifestations may sometimes be subtle, and diagnosis may be delayed. The main ophthalmic manifestations historically reported in HHT are haemorrhagic epiphora, and conjunctival telangiectasia present in 45-65% of cases, however, imaging with wide-field fluorescein angiography has recently shown peripheral retinal telangiectasia in 83% of patients. Optimal management of HHT requires both understanding of the clinical presentations and detection of early signs of disease. Advances in imaging methods in ophthalmology such as wide-field fluorescein angiography, spectral domain optical coherence tomography, and near infrared reflectance promise further insight into the ophthalmic signs of HHT towards improved diagnosis and early management of possible severe complications.

A Prospective Randomized Study Comparing 27-Gauge Vitrectomy to 23-Gauge Vitrectomy for Epiretinal Membranes and Full-Thickness Macular Holes.

Purpose: To compare the surgical and clinical outcomes of 27-gauge vitrectomy and 23-gauge vitrectomy. Methods: We conducted a single-center, prospective, randomized study. Fifty-three patients affected by vitreoretinal interface disorders (epiretinal membranes and macular holes) were randomly scheduled to undergo 27-gauge (28 patients) or 23-gauge (25 patients) pars plana vitrectomy. The presence of any potential factor of increased baseline inflammation or eye anatomy influencing the surgery was criteria for exclusion. The time of surgery, postoperative intraocular pressure (IOP), state of sclerotomy wounds, rate of complications, postoperative pain, and indicators of inflammation were studied. We also introduced a new parameter to compare intraocular inflammation after surgery, given by the change in the number of intraretinal hyperreflective foci (HRF). Results: The 27-gauge vitrectomy was 1.28 min longer than 23-gauge vitrectomy (P < 0.05). The day after surgery, the mean IOP value was significantly higher in the 27-gauge group (16.12 mmHg versus 13.04 mmHg in the 23-gauge group,P < 0.05), but this difference disappeared in successive follow-ups and the sclerotomy wounds closed after 2 weeks in the both groups. The rate of postoperative hypotony did not significantly differ in the two groups (10.71% in the 27-gauge group and 8% in the 23-gauge group the day after the surgery,P = 0.94). Less postoperative eye redness was seen in 27-gauge eyes (value 1 on the scale) compared to 23-gauge (value 2 on the scale) (P < 0.05), but there was no significant difference in intraocular inflammation (cells, Tyndall, and number of HRF,P > 0.05 for all). Conclusions: The 27-gauge vitrectomy may have better outcomes in terms of IOP maintenance and cause less redness after the surgery but with a slightly prolonged surgery time and no other differences under other parameters (inflammation, rate of complications, postoperative pain, visual gain, and closure of the sclerotomy wounds).

Long-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral-domain optical coherence tomography: a review of the literature and a report of a case.

Background: Retinal astrocytic hamartoma (RAH) is a tumor that can be sporadic or in the context of tuberous sclerosis complex (TSC) and has been reported to be associated with neurofibromatosis type 1 (NF1) in a few cases.Patient and methods: A 65-year-old male patient with NF1 was referred for ophthalmological evaluation. Comprehensive examination, near-infrared reflectance (NIR), spectral-domain optical coherence tomography (SDOCT), fluorescein angiography (FFA), and indocyanine green angiography (ICGA) were carried out. The follow-up of the patient was at 4 and 7 years.Results: Best-corrected visual acuity (BCVA) was 20/20 in both eyes. Anterior segment examination revealed bilateral Lisch nodules. Fundus examination was unremarkable but at NIR and SDOCT the patient presented choroidal hamartoma, microvascular retinal alterations, and enlarged choroidal vessels in both eyes. NIR also revealed an unusual area of peripapillary hyporeflectivity in the right eye. On SDOCT, this corresponded to an elevated peripapillary mass characterized by intralesional optically empty cavities in the retinal nerve fiber layer (RNFL) and ganglion cell layer-inner plexiform layer (GCL-IPL), diagnosed as a RAH. Four years later, BCVA was 20/25 with a retinal schisis departing from the lesion to the macula. At 7 years, BCVA was stable at 20/25, the lesion was smaller, and there was a slight reduction of the schisis.Conclusion: RAH is a rare finding in NF1 and the translucent type has not been previously reported. RAH in NF1 has a peripapillary location and demonstrates clinically unpredictable behavior; thus, close monitoring with multimodal imaging is advisable.

Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome.

Background: Diffuse choroidal hemangioma (DCH) is a benign vascular tumor that is characteristically found in the Sturge-Weber syndrome (SWS). Recent genetic discoveries demonstrate that DCH occurs sporadically from an activating mutation in GNAQ at codon R183. Mutations in GNAQ or GNA11 result in dysregulation of the mitogen-activated protein kinase, which influences gene transcription and results in cellular proliferation. DCH may not always be readily detected on routine ophthalmological examination, consequently diagnosis and multidisciplinary referral are often delayed.Purpose: A literature search was performed through April 2020 without a lower date limit. This review will summarize the pathogenesis, diagnosis and management of DCH.Discussion: Multimodal imaging facilitates early detection of the condition. In particular, enhanced depth imaging spectral domain optical coherence tomography enables non-invasive, high-resolution visualization of the choroid to even detect mild choroidal thickening. Management of symptomatic DCH is generally difficult and results in poor visual outcome, thus, treatment is generally unwarranted, unless the hemangioma complicated by serous retinal detachment. The main treatment method is radiation therapy with external beam radiation therapy, proton beam therapy, plaque brachytherapy, and gamma knife surgery where low doses of radiation entail fewer complications. One method of alternative management is with photodynamic therapy that, although less invasive with a lower rate of complications, is not always feasible or effective in cases with extensive exudative retinal detachment.Conclusions: Multimodal ophthalmological imaging facilitates diagnosis of DCH and lifelong surveillance is essential in patients.

Visual Performances of a New Extended Depth-of-Focus Intraocular Lens with a Refractive Design: A Prospective Study After Bilateral Implantation.

PURPOSE: The aim of the present study was to evaluate the visual outcome of a new extended depth-of-focus (EDOF) intraocular lens (IOL) after bilateral implantation. A qualitative and quantitative analysis was performed and data were compared with those given by other studies regarding multifocal IOLs, which have the same purpose of giving spectacle independence to the patients. METHODS: The study enrolled 40 eyes of 20 patients who underwent cataract surgery with bilateral implantation of an EDOF IOL (Evolve Soleko, Rome, Italy). The mean age was 74.5±9 years (range 59-83ys). Refractive outcomes and contrast sensitivity were evaluated preoperatively and at 6-month follow-up. We also examined reading speed, glare, halos, difficulties in the night driving, the requirement for spectacles, and overall satisfaction with vision. Two questionnaires were administered for this purpose. RESULTS: At 6 months, the percentage of eyes within ±0.50 diopters (D) from emmetropia was 82.5%. Of all patients, 90% were satisfied with their vision. The percentage of spectacle-free for near and distance vision patients was 70% and 95%, respectively. A postoperative binocular uncorrected 60cm intermediate visual acuity (UI60VA) of 0.2 logMAR or better was achieved in 92% of patients. Contrast sensitivity significantly improved postoperatively (p<0.001) and mean reading speed was good. CONCLUSION: This new EDOF IOL seems to provide an effective alternative to patients who desire a spectacle-free lifestyle postoperatively. These lenses can supply a satisfactory distance, intermediate and near vision, and retain good contrast sensitivity, with most patients reporting excellent satisfaction.

Effects of Scleral Contact Lenses for Keratoconus Management on Visual Quality and Intraocular Pressure.

PURPOSE: To evaluate the visual acuity level achieved by scleral contact lens (CL) fitting in patients affected by keratoconus and to evaluate possible intraocular pressure (IOP) changes during the scleral CL wear using a transpalpebral tonometer. METHODS: In a prospective case series a comparison was made between visual acuity obtained with glasses, RGP and 16.8mm diameter scleral CL in 30 consecutive patients affected by keratoconus. IOP was tested during scleral CL wear by transpalpebral Diaton Tonometer (DT) and also by Goldmann Applanation Tonometer (GAT) before and after scleral CL wear. RESULTS: The mean logMAR visual acuity improved from 0.2±0.25SD with glasses and 0.1±0.02SD with RGP, to -0.002±0.041SD when using the scleral CL (p<0.05). The mean IOP value before scleral CL wear was 12.93mmHg±2.20SD when measured with GAT and 7.85mmHg±2.27SD when measured with DT. During scleral CL wear, IOP was assessed through DT, with a mean value of 8.86mmHg±2.36SD; values were stable after 8 hours of scleral CL use. Immediately after scleral CL removal, the mean IOP measured with GAT was 12.85mmHg ±2.40SD and the mean IOP measured with DT was 7.66mmHg±1.88SD. Therefore, during scleral CL wear, it was evidenced a small but statistically significant increase of the mean IOP value (1.01mmHg; p<0.01), with a reversion to values prior to application when scleral CL was removed. CONCLUSION: Scleral CLs remarkably improved visual acuity in keratoconus patients when compared to glasses or RGP contact lenses. Even if it was evidenced a small increase of the mean IOP value during their wear, it may not be significant in otherwise healthy eyes. Statistical analysis demonstrated good agreement between GAT and DT but their numerical values presented a constant gap, that should be taken into account when there is a need to relate the DT values to the reference ones.

Unusual Case of Indolent Choroidal Alterations Mimicking Neurofibromatosis Type 1.

Indolent, non-progressive choroidal alterations can be strongly suggestive of neurofibromatosis type 1 (NF1) but are also rarely of unknown aetiology. A 63-year-old man presented for a routine examination. Comprehensive ophthalmological examination and retinal imaging was performed. Visual acuity was 20/20. The anterior segment and fundus were unremarkable. Near-infrared reflectance (NIR) with spectral-domain optical coherence tomography showed unilateral hyperreflective areas in the left posterior pole, corresponding to choroidal nodules on enhanced depth imaging and hypofluorescent areas on indocyanine green angiography. Dermatological evaluation and genetic testing for NF1 were negative. Chest computed tomography, liver function, HLA-A29, and angiotensin-converting enzyme level were negative. The patient has remained in good health and the choroidal alterations have remained non-progressive for 3 years. Choroidal alterations observed with NIR could be a manifestation of somatic mosaicism or a variation of a new unclassified correlated condition that may be better elucidated in the future, given the use of novel imaging techniques that are currently available in ophthalmology.

Anti-Vascular Endothelial Growth Factor Intravitreal Therapy and Macular Ganglion Cell Layer Thickness in Patients with Neovascular Age-Related Macular Degeneration.

Purpose: To assess macular ganglion cell layer (GCL) thickness in patients treated with intravitreal anti-vascular endothelial growth factor (anti-VEGF) for exudative age-related macular degeneration (AMD). Materials and Methods: This was a two-year retrospective institutional case series where records of patients treated with anti-VEGF injections for unilateral AMD were reviewed for BCVA, intraocular pressure, and spectral domain optical coherence tomography. Macular GCL thickness was evaluated with automated retinal segmentation based on ETDRS grid rings. Retinal layer segmentation was carefully assessed and manually corrected for any misalignment. Results: 48 eyes of 24 patients with unilateral exudative AMD were included. The mean number of anti-VEGF injections was 10.4 ± 3.2. Fellow eyes were classified as AREDS category one and two. There was significant thinning of the 3-mm macular GCL in treated compared with fellow eyes at one and two years (P = .03 and P = .04, respectively). GCL thickness compared to baseline showed a significant decrease at one and two years in treated (P = .01 and <0.0001) and at two years in untreated fellow eyes (P = .02). Conclusions: There is a decrease of macular GCL thickness in eyes with exudative AMD treated with anti-VEGF intravitreal injections in comparison with fellow eyes. There is longitudinal thinning of the GCL from baseline in eyes with both treated exudative and non-treated early AMD.

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: A case report highlighting the role of multimodal imaging and a brief review of the literature.

PURPOSE: To present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations. METHODS: A 37-year-old woman with diagnosis of SWS presented to our unit. The patient had been treated with pulsed dye laser for bilateral nevus flammeus and had right leptomeningeal angiomatosis. She had glaucoma, but ultrasound biomicroscopy did not show anterior chamber or ciliary body alterations. RESULTS: Enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) showed bilateral diffuse choroidal hemangiomas in both eyes with choroidal thickness above 1000 µm. B-scan ultrasound examination showed diffuse choroidal hemangioma in both eyes, with a choroidal thickness of 1.53 mm and 1.94 mm in the right and left eye (RE, LE), respectively. Peripapillary retinal nerve fiber evaluation showed thinning of the retinal nerve fiber layer in both eyes. CONCLUSIONS: This report highlights multimodal imaging techniques for the critical assessment of patients with SWS, especially in rare cases with bilateral choroidal hemangioma of the choroid. Novel imaging modalities enable optimal management and follow-up of rare conditions, and our case adds further evidence to the existing literature.