Severe Visual Acuity Research Articles

Outcomes of cataract surgery performed by non-physician cataract surgeons in remote North Cameroon

ObjectiveTo report the outcomes of cataract surgery performed by non-physician cataract surgeons due to lack of ophthalmologists in remote areas of North Cameroon.DesignProspective cohort study.SettingThe main centre of the non-governmental...

Acute Retinal Necrosis Multicenter Case Series: Prognostic Indicators and Treatment Outcomes

Purpose: The purpose of this article is to report the prognostic associations of acute retinal necrosis (ARN), determine the diagnostic utility of aqueous vs vitreous polymerase chain reaction (PCR), and describe outcomes of antiviral, corticosteroid, antithrombotic, and laser retinopexy treatment. Methods: A retrospective, nonrandomized case series was conducted. Primary outcomes included final visual acuity (VA), severe VA loss (≥1.00 log of the minimum angle of resolution [logMAR] [Snellen equivalent, <20/200]), and retinal detachment (RD). Results: Fifty eyes of 46 patients were diagnosed with ARN. Varicella-zoster and herpes simplex viruses were the viral etiology in 29 and 16 eyes, respectively. Five were diagnosed on clinical criteria. Intravenous acyclovir was administered in 90% of eyes. Neither induction therapy for ≥13 days ( P = .692) nor intravitreal medication ( P = .203) decreased the incidence of severe vision loss. Maintenance antiviral medication was administered in 96% of eyes (50% received >13 weeks). At final follow-up, 40% of eyes had severe vision loss (range, –0.08 to +3.0 logMAR [Snellen, 20/17-no perception of light]). Forty-six percent developed RD. Relative afferent pupillary defect (RAPD), zone and extent of retinitis, and RD were prognostic of final VA. Antithrombotic therapy was administered in 25/50 eyes and was associated with lower incidence of severe VA loss ( P = .027) and better final VA ( P = .040). Laser retinopexy was performed in 40% of eyes with no significant effect on RD incidence ( P = .901) or severe VA loss ( P = .451). Conclusions: ARN has a high incidence of RD and poor visual outcomes. Aqueous humor PCR is the first-line diagnostic investigation. Prognostic indicators include RD, RAPD, zone, and extent of retinitis. Induction antiviral medication is appropriate for at least 12 days. Antithrombotic medication is associated with improved outcomes. Laser retinopexy does not reduce the incidence of RD.

Treatment of Syphilis-Associated Cerebral Vasculitis: Reappearance of an Old Question

BackgroundCerebral vasculitis caused by neurosyphilis is a re-emerging problem with diagnostic and treatment issues, especially for human immunodeficiency virus patients. MethodsWe present a case of relapsing syphilis-associated cerebral vasculitis, despite the recommended first-line antibiotic treatment, that was successfully treated with a second intravenous penicillin G course and corticosteroids. ResultsA 50-year old man went to the emergency department for bilateral episodes of red and painful eyes with progressive but severe visual acuity loss. He was diagnosed with bilateral panuveitis and neurosyphilis favored by an unknown human immunodeficiency virus infection with a CD4 count of 236 mm3. Despite appropriate and well-conducted treatment including intravenous penicillin G, short-term corticosteroid, and highly active antiretroviral therapy, a symptomatic relapse of the syphilis-associated cerebral vasculitis occurred. After a second course of penicillin and corticosteroids, he made a complete recovery. ConclusionsNeurosyphilis and human immunodeficiency virus co-infection is a reappearing challenging situation that should be considered with care by physicians because recommended antibiotic treatment sometimes fails. Corticosteroid therapy should be discussed in case of cerebral vasculitis.

Baseline Predictors of Visual Acuity Outcome in Patients with Wet Age-Related Macular Degeneration.

Age-related macular degeneration (AMD) is one of the leading causes of severe vision loss in people over 60 years. Wet AMD (wAMD) causes more severe visual acuity (VA) loss compared with the dry form due to formation of choroidal neovascularization (CNV). Antivascular endothelial growth factor (anti-VEGF) agents such as ranibizumab and aflibercept are now the standard of care treatment for wAMD. Unfortunately, up to a quarter of anti-VEGF-treated wAMD patients might not fully benefit from intravitreal injections and CNV activity may not respond to the treatment and these patients are called anti-VEGF nonresponders. This article aims to discuss the baseline factors associated with VA outcome such as age, initial VA, lesion types, disease duration, optical coherence tomography (OCT) features, fundus autofluorescence findings, and the presence of particular genotype risk alleles in patients with wAMD. Recommendations are provided regarding when to consider discontinuation of therapy because of either success or futility. Understanding the predictive factors associated with VA outcome and treatment frequency response to anti-VEGF therapy may help retina specialists to manage patients' expectations and guide treatment decisions from the beginning of treatment on the basis of “personalized medicine.”

Comparison of self‐made cryopreservative fibrin glue and commercial fibrin glue kit in pterygium surgery: 1‐year follow‐up

To assess long-term efficacy and safety of self-made cryopreservative fibrin glue (SMC) applied in pterygium surgery. Prospective, comparative, interventional case series. Forty eyes of 40 patients with nasal primary pterygium, 24 male and 16 female, were enrolled. The patients were assigned to two groups and each contained 12 male and eight female based on the pterygium area encroaching onto the cornea. In one group, the conjunctival autograft was attached to the sclera with SMC stored for 2months, and in the other group, commercial fibrin glue kit (CK) was applied after the pterygium was removed. All the patients were followed up postoperatively on days 1, 3, 7 and 14 then at months 1, 3, 6, 12. The main outcome measures included operating time, postoperative discomfort, recurrence rate and complications. There were no significant differences in surgery time (p=0.713) and postoperative discomfort (day 1, 3, 7; p=0.747, p=0.766, p=0.983, respectively) between the two groups. By the end of 1-year follow-up, the recurrence rate was 0% in the SMC group and 5% in the CK group (p=1.000). There were no infections and severe visual acuity (VA) threatening complications in either group. Self-made cryopreservative fibrin glue (SMC) is as effective as standard CK for autograft fixation in pterygium surgery and it also has good safety after long-term follow-up. For its convenience and low cost, this new methods should be popularized, especially in underdeveloped area.

Optic Nerve Infiltration in Primary Central Nervous System Lymphoma

Visual impairment in primary central nervous system lymphoma (PCNSL) is caused mostly by intraocular lymphomatous involvement (vitritis and retinal infiltration), whereas optic nerve infiltration (ONI) is a rare condition. To describe the clinical presentation of ONI, its imaging characteristics, and outcome. A total of 752 patients diagnosed with PCNSL were retrospectively identified from the databases of 3 French hospitals from January 1, 1998, through December 31, 2014. Of these, 7 patients had documented ONI. Exclusion criteria were intraocular involvement, orbital lymphoma, or other systemic lymphoma. Clinical presentation, neuroimaging, biological features, treatment, and outcomes were assessed. Treatment response was evaluated clinically and radiologically on follow-up magnetic resonance imaging (MRI) according to the International PCNSL Collaborative Group response criteria. The 7 patients included 5 women and 2 men. Median age at diagnosis was 65 years (range, 49-78 years). Two patients had initial ONI at diagnosis, and 5 had ONI at relapse. Clinical presentation was marked by rapidly progressive and severe visual impairment for all patients. The MRI findings showed optic nerve enlargement in 3 patients and contrast enhancement of the optic nerve in all patients. Additional CNS lesions were seen in 4 patients. Examination of cerebrospinal fluid samples detected lymphomatous meningitis in 2 patients. Clinical outcome was poor and marked by partial recovery for 2 patients and persistent severe low visual acuity or blindness for 5 patients. Median progression-free survival after optic nerve infiltration was 11 months (95% CI, 9-13 months), and median overall survival was 18 months (95% CI, 9-27 months). Optic nerve infiltration is an atypical and challenging presentation of PCNSL. Its visual and systemic prognosis is particularly poor compared with vitreoretinal lymphomas even in response to chemotherapy. Although intraocular involvement is frequent in PCNSL and clinically marked by slowly progressive visual deterioration, lymphomatous ONI is rare and characterized by rapidly progressive severe visual impairment.

Ophthalmic Manifestations and Causes of Vision Impairment in Ebola Virus Disease Survivors in Monrovia, Liberia

To describe the ocular findings, visual impairment, and association of structural complications of uveitis with visual impairment in a cohort of survivors of Ebola virus disease (EVD) in Monrovia, Liberia. Retrospective, uncontrolled, cross-sectional study. Survivors of EVD who were evaluated in an ophthalmology clinic at Eternal Love Winning Africa (ELWA) Hospital in Monrovia, Liberia. A cohort of EVD survivors who underwent baseline ophthalmic evaluation at ELWA Hospital were retrospectively reviewed for demographic information, length of Ebola treatment unit (ETU) stay, visual acuity (VA), and ophthalmic examination findings. For patients with uveitis, disease activity (active vs. inactive) and grade of inflammation were recorded according to Standardization of Uveitis Nomenclature criteria. The level of VA impairment was categorized according to World Health Organization classification for VA impairment as follows: normal/mild, VA 20/70 or better; moderate, VA 20/70-20/200; severe, VA 20/200-20/400; blindness, VA <20/400. Visual acuity, length of ETU stay, and structural complications were compared between EVD survivors with and without uveitis. Structural complications associated with moderate VA impairment or poorer were analyzed. Frequency of ocular complications including uveitis and optic neuropathy in EVD survivors, level of VA impairment in EVD survivors with uveitis, and structural complications associated with VA impairment in EVD survivors. A total of 96 survivors of EVD were examined. A total of 21 patients developed an EVD-associated uveitis, and 3 patients developed an EVD-associated optic neuropathy. Visual acuity was blind (VA >20/400) in 38.5% of eyes with uveitis. Anatomic subtypes of uveitis included anterior, posterior, and panuveitis in 2, 13, and 6 patients, respectively. Examination findings associated with at least moderate visual impairment by World Health Organization criteria (VA <20/70) included keratic precipitates (P < 0.002), posterior synechiae (P < 0.002), vitritis (P < 0.005), and chorioretinal scars (P < 0.02). Survivors of EVD are at risk for uveitis, which may lead to secondary structural complications, visual impairment, and blindness. Eye care resources should be mobilized for EVD survivors in West Africa because of the frequency of this spectrum of disease complication and its potential for severe VA impairment and blindness.

Anterior iris‐claw intraocular lens implantation for the management of nontraumatic ectopia lentis: long‐term outcomes in a paediatric cohort

To report the feasibility and long-term safety of lensectomy and iris-claw intraocular lens (IOL) implantation to treat children with severe ectopia lentis in a paediatric tertiary hospital. Prospective cohort study of 21 eyes from 12 patients with severe ectopia lentis and visual acuity <20/63. All eyes underwent 23-gauge pars plana vitrectomy, lensectomy, iridectomy and Artisan IOL implantation in the anterior chamber with iris-claw enclavation via pars plana. Mean age at surgery was 8.0±5.3yo (range 3-17years). A full ophthalmologic examination including best-corrected visual acuity (BCVA), biomicroscopy, intraocular pressure (IOP) measurement, fundus evaluation and central endothelial cell count (cECC) was performed pretreatment, at 3months' postsurgery, and every 6months thereafter. Ultrasound biomicroscopy (UBM) was performed 12months after surgery. Mean follow-up was 39.3±13.0months. Best-corrected visual acuity (BCVA) (mean±SD) improved from 0.91±0.29 logMar preoperatively to 0.18±0.23 logMar at final follow-up (p<0.0001). Mean distance from the endothelium to the anterior IOL surface after surgery was 3.11±0.61mm. Postsurgically, cECC loss was 5.04%±9.58% with an annual cECC loss rate of 3.16%±4.46%. One patient developed IOL dislocation and retinal detachment after severe ocular contusion requiring vitrectomy, IOL refixation and gas tamponade. Another patient developed cystoid macular oedema, managed with intravitreal dexamethasone. This technique is both feasible and effective to manage severe ectopia lentis in children. Lifetime ophthalmic follow-up including cECC measurement, IOL position monitoring and fundus examination is mandatory in these patients.

Central retinal vein occlusion: modifying current treatment protocols.

Central retinal vein occlusion (CRVO) is a common retinal vascular disorder that can result in severe visual acuity loss. The randomized control study, CRUISE, helped establish anti-VEGFs as the standard of care in cases with CRVO. The extension studies for CRUISE; HORIZON and RETAIN showed that not all visual gains are maintained beyond the first year. In addition, patients showed different behavior patterns; with some patients showing complete response with few recurrences, whereas others showed partial or even no response with multiple recurrences. Long-term follow-up demonstrated that patients responding poorly to anti-VEGFs tended to do so early in the course of treatment. It also demonstrated the effectiveness of a pro re nata (PRN) protocol for improving vision and maintaining these gains over long-term follow-ups. The SHORE study further illustrated this point by demonstrating that there were minimal differences in visual outcomes between patients receiving monthly injections and patients being treated PRN. In this review we analyzed the data from the major randomized clinical trials (RCT) that looked at anti-VEGFs as the primary treatment modality in patients with CRVO (CRUISE and the extension studies HORIZON and RETAIN for ranibizumab as well as GALILEO and COPERNICUS for aflibercept). In addition, we looked at SCORE and GENEVA to help determine whether there is a place for steroids as a first line therapy in current treatment practice. We then explored alternative treatment regimens such as laser therapy and switching between anti-VEGF agents and/or steroids for non or partially responding patients. Finally, we propose a simplified modified treatment algorithm for patients with CRVO for better long-term outcomes in all types of responders.

Anti-VEGF Pharmacotherapy as an Alternative to Panretinal Laser Photocoagulation for Proliferative Diabetic Retinopathy

From 1976 to 1981, the results of the Diabetic Retinopathy Study identified that panretinal laser photocoagulation (PRP) for high-risk proliferative diabetic retinopathy (PDR) reduced the rate of severe visual acuity loss by more than 50% compared with the natural history of the disease. 1,2 The Diabetic Retinopathy Study identified 4 key risk features of PDR (retinal neovascularization [NV]; NV within 1 disc diameter of the optic disc [NVD]; severe NV [NVD >¼ to ⅓ disc diameters or NV elsewhere >½ disc diameter]; and preretinal or vitreous hemorrhage) and indicated that the presence of 3 or more risk factors constituted high-risk characteristics for developing severe vision loss. 3 The results of the Diabetic Retinopathy Study have served as the basis for the accepted standard of care in the management of PDR for decades. In this issue of JAMA, the investigators from the Diabetic Retinopathy Clinical Research Network (DRCR.net) present the results of a clinical trial comparing PRP and intravitreous ranibizumab among patients with PDR. 4 This noninferiority study included 305 adults with PDR, including 89 participants who had both eyes enrolled, for a total of 394 study eyes. Patients in the ranibizumab group (n = 191 eyes) received intravitreous ranibizumab (0.5 mg) (and PRP if treatment failed) and received ranibizumab as needed for diabetic macular edema, whereas patients in the PRP group (n = 203 eyes) re

Hypocalcemia Induced Severe Heart Insufficiency and Visual Acuity Impairment– Will Calcium Supplementation Improve Heart and Eye Function?

Introduction: Hypocalcemia is a potentially life-threatening biochemical disorder often misdiagnosed and mistreated. Case report: A case of a female patient with unilateral visual acuity drop, significant neurological and cardiologic problems caused by severe hypocalcemia is presented. Supplementation therapy led to withdrawal of neurological symptoms, improvement of the heart function and stabilization of the left eye visual acuity. Right eye visual acuity was excellent with occasional drops correlating to low serum calcium level. Discussion: Physicians should be aware of hypocalcemia because time between the onset of symptoms and diagnosis averages ten years and adequate treatment can prevent severe eye, heart and neurological complications. Hopefully, this case would be instructive for future medical practice, especially for recognition and treatment of the extremely rare case of unilateral hypocalcemia-induced optic neuritis.

Clinical Characteristics and Surgical Problems of Ruptured Globe Injury

BackgroundOcular trauma is a major cause of vision loss, especially in the young patients, and is the leading cause of unilateral blind in China. ObjectiveThe aims of this report are to analyze ciliary and choroidal lesion characteristics and outcomes of a group of patients with ruptured globe injuries and discuss finding a more effective treatment protocol. Here we report our experience treating ruptured globe injuries. MethodsSeventy-five patients (75 eyes) with a diagnosis of ruptured globe injuries were selected from 264 patients with open globe injuries at the Shierming Eye Hospital of Shandong Province between January 2009 and December 2011. General information and clinical characteristics such as ciliary and choroidal lesion features were reviewed. ResultsOf the 75 patients, 85.3% were men, and the average age of the patients was 37.2 years (range, 6–63 years). The right eye was injured in 52.0%; enucleation was performed in 9 patients. There was no light perception, in the final corrected visual acuity in another 3 patients. The ratio of better visual acuity (better than 0.1) increased from 0 preoperatively to 16.0% postoperatively. Among the 75 patients with ruptured globe injuries, 13 had ciliary injury and 47 (62.7%) had choroidal injuries. Both ciliary and choroidal injuries were detected in 15 patients. Retinal tissue incarceration during sclera suturing was usually the vital point leading to unfavorable results. ConclusionsRuptured globe injury usually results in severe visual acuity damage. Active treatment could help to restore visual acuity in patients to some degree. Some effective treatment protocols for ruptured globe injuries could be followed. Some unsuitable procedures in primary treatment should be avoided to achieve a better prognosis.

Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290

To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene. Visual acuity was determined at the initial and most recent visits of 43 patients with LCA and CEP290 mutations. The main outcome measures included the best-corrected VA at the initial and most recent visits, as well as the correlation between age and VA. At the initial visit, 14 patients had measurable chart VA in the better-seeing eye, 25 patients had nonmeasurable chart VA, and 4 young patients did not have VA assessed. At the most recent visit, 15 patients had measurable chart VA and 28 had nonmeasurable chart VA. The average interval between the 2 visits was 10.4 years (range, 2-47 years). For patients with measurable chart VA, the median logMAR value at the initial visit (0.75; range, 0.10-2.30) and at the most recent visit (0.70; range, 0.10-2.00) did not differ significantly (P> .05). There was no significant relationship between VA and age. Patients with LCA and CEP290 mutations had a wide spectrum of VA that was not related to age or length of follow-up. Severe VA loss was observed in most, but not all, patients in the first decade. These data will help clinicians provide counseling on VA changes in patients with CEP290 mutations and could be of value for future treatment trials.

Dangerous waters: outbreak of eye lesions caused by fresh water sponge spicules

To describe an extremely uncommon outbreak of eye lesions in a specific area of the Brazilian Amazonia. Prospective noncomparative case series. Fifty-nine patients who developed eye lesions after swimming in the Araguaia river of Tocantins state in Brazil were examined. A team of ophthalmologists equipped with a slit-lamp, gonioscopic lenses, and indirect ophthalmoscopy performed full eye examination. Analysis of the flora and fauna of the river water was undertaken by a group of experts. Eighty-three eyes were affected. The most common lesions were corneal opacities seen in 34 eyes and conjunctival nodules diagnosed in 12 eyes. Severe visual acuity loss was detected in seven children with unilateral anterior chamber lesions. Spicules of the sponge species Drulia uruguayensis and Drulia ctenosclera were found inside three blind eyes that have been enucleated for diagnostic purposes. All eye lesions could be attributed to an outbreak of foreign bodies from fresh water sponges. Organic enrichment of the water resulting from the absence of sanitation probably was the key factor, which initiated a cycle of ecological imbalance that provoked human disease.

Topiramate maculopathy

The purpose of this study is to present the first case of a pure 'topiramate maculopathy' without acute glaucoma and/or myopia, which form the classical syndrome. Interventional/observational case report. Institutional University Teaching Hospital. A 22-year-old American female, after taking 100 mg of topiramate (Topamax®) a day for 6 days because of a migraine attack, complained of severe visual acuity deterioration of sudden onset in both eyes, regardless of distance (far or near), during the span of 1 day. A complete ocular examination was carried out. Best-corrected visual acuity (BCVA) in the right eye was hand motion and in the left eye was counting fingers. Cycloplegic refraction and pinhole did not improve the visual acuity of patient's eyes. The anterior chamber depth was normal in both eyes. Tonometry was 14 mmHg in both eyes. Fundus biomicroscopy disclosed a maculopathy with macular striae and a cellophane-like reflex. Optical coherence tomography (OCT) showed an undulating profile with congruent retinal folds and choroidal layers plicae. INTERVENTIONAL/OBSERVATION PROCEDURE: Immediate discontinuation of Topamax and steroid therapy. BCVA, cycloplegic refraction, tonometry, fundus photography, and OCT. Three days after suspension of Topomax and steroid therapy the patient's BCVA was 6/6 in both eyes. Tonometry was 14 mmHg in both eyes. Fundus appearance and OCT features were nearly normal. After 2 years of follow-up, the patient's BCVA, tonometry, macula, and OCT are stable in both eyes. In conclusion, an isolated (unassociated with glaucoma and/or induced myopia) acute maculopathy, previously known as being part of a rare syndrome, has been identified, described, and documented.

Development of a vision‐related quality of life instrument for children ages 8–18 years for use in juvenile idiopathic arthritis–associated uveitis

To determine the validity and reliability of a novel questionnaire to measure vision-related quality of life (VRQOL) in children ages 8-18 years for use in juvenile idiopathic arthritis (JIA)-associated uveitis: the Effects of Youngsters' Eyesight on Quality of Life (EYE-Q). Several steps validated the EYE-Q. We interviewed experts and children on how vision affects a child's activities. We developed new items and selected relevant items from existing instruments. We administered initial versions of the EYE-Q to normal-sighted children and those with JIA-associated uveitis. For this study, children with various (or no) ocular conditions were recruited from a clinical population. Visual acuity and contrast sensitivity were performed, and the EYE-Q and Pediatric Quality of Life Inventory (PedsQL) were administered. The EYE-Q was repeated 10 days later. Patients, parents, and physicians rated vision severity. Of 120 patients, 48% were female, 46.7% had no visual impairment, and 53.3% had bilateral eye involvement. The mean age was 11.3 years. There were significant differences in the measures based on visual acuity (P < 0.001). Children with more severe visual acuity and bilateral eye involvement had worse EYE-Q scores (P < 0.001). There were significant associations between the EYE-Q and PedsQL (r = 0.375), repeat EYE-Q (r = 0.864), and clinical measures of ocular disease (r = -0.620). Our study provides evidence of the validity and reliability of the EYE-Q in the measurement of VRQOL. The EYE-Q may complement clinical measures of visual impairment and overall QOL and become an important tool in the assessment of QOL in JIA-associated uveitis.

Use of multifocal ERG and OCT for diagnosing Stargardt's disease

Stargardt’s disease (Stargardt’s macular dystrophy, juvenile macular degeneration) was originally described by Stargardt in the early 1900s and is known as the most common congenital macular dystrophy, with an incidence of one in every 10,000. Stargardt’s disease (STGD) is characterised as a widespread lipofusin storage disease of the retinal pigment epithelium (RPE). Typically, it presents between the first to third decades of life and is associated with a progressive, bilateral decrease in visual acuity leading to legal blindness and central visual acuity of 6/60 to 6/120. Though it is typically associated with an autosomal recessive (AR) inheritance pattern, autosomal dominant (AD) cases have been reported with later onset and less severe acuity loss. Classic findings include bilateral macular changes that begin as granular mottling with progression toward a ‘beaten bronze’ maculopathy. The late stage of the disease is associated with macular atrophic degeneration. Yellow-white flecks in the posterior pole may be noted; they are described as tri-radiating ‘fish tail’ (pisciform) flecks. Traditionally, Stargardt’s disease has been diagnosed through clinical evaluation and fluorescein angiography (IVFA), which demonstrates a dark or ‘silent’ choroid due to the blockage of the fluorescein by the lipofusin deposition in the RPE. Though fluorescein angiography has been considered the ‘gold standard’ in verifying the presence of the disease, the characteristic dark choroid pattern is seen in only 85 per cent of patients with Stargardt’s disease. There have been reports of patients with autosomal dominant inheritance pattern who fail to demonstrate this classic fluorescein angiography finding. Newer and minimally invasive procedures, such as the multifocal electroretinogram (mfERG) and optical coherence tomography (OCT), may aid in diagnosing and managing patients with the disease. These ancillary tests may be used in the event that fluorescein angiography cannot be performed or used in conjunction with traditional fluorescein angiography as a complementary procedure. Multifocal electroretinography (mfERG) is a minimally invasive procedure that has been shown to be helpful in the diagnosis of Stargardt’s disease. Unlike traditional flash electroretinography (fERG), this technology has proved extremely reliable in diagnosing and monitoring various forms of macular dystrophy. In the case of Stargardt’s disease, the patient presents with significant variation in presentation; from normal to reduced acuity, minimal to significant fundus findings and normal to slightly reduced full field flash electrophysiological findings. Regardless of the presentation, Stargardt’s patients typically have a significant reduction of the foveal response and central approximately 10 degrees in both eyes on mfERG, even early in the disease process with relatively good visual acuity and minimal fundus findings. In addition to electrophysiology, retinal imaging technology such as OCT has proved effective in correlating structural damage with functional visual loss. The OCT findings of patients with Stargardt’s disease include decreased thickness of the retina, most notably in the foveola. The OCT also reveals photoreceptor loss and external nuclear layer changes, as well as abnormalities in the retinal pigment epithelium.

Visual Acuity Development of Children with Infantile Nystagmus Syndrome

Infantile nystagmus syndrome (INS) can be idiopathic or associated with ocular or systemic disease. The ocular oscillation of INS directly contributes to loss of visual acuity. In this study, visual acuity development in patients with INS was examined. Children with INS were classified as having idiopathic INS (n = 84) or INS with an associated sensory deficit: INS and albinism (n = 71), bilateral optic nerve hypoplasia (ONH; n = 23), or congenital retinal disorder (n = 36). Visual acuity was assessed with Teller cards and/or optotypes, and the data were analyzed for three age groups (<24 months, 24-48 months, and >48 months). Patients with idiopathic INS showed mildly reduced visual acuity early in life and gradual maturation with age that paralleled a normative curve. Patients with albinism also showed a mild visual deficit early in life but failed to keep pace with the normative curve, showing a gradual increase in visual acuity deficit. Patients with ONH and congenital retinal disorders exhibited more severe visual acuity deficits during infancy. The ONH group displayed slow improvement of visual acuity with a plateau at 24 months through >48 months, with a small increase in visual acuity deficit. The congenital retinal disorder group had no significant change in visual acuity across age and had a rapid increase in visual acuity deficit. The pattern of visual acuity development differs among children with INS, depending on the presence or absence of associated sensory system deficits. Careful characterization of visual system differences in patients with INS is important if visual acuity is an outcome in clinical trials.

Clinical Evidence of Intravitreal Triamcinolone Acetonide in the Management of Age-Related Macular Degeneration

Triamcinolone acetonide (TA) is one of the first pharmacologic compounds evaluated for the treatment of choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD). The most important effects of TA consist in the stabilisation of the blood-retinal barrier and the down-regulation of inflammation. TA also has anti-angiogenic and anti-fibrotic properties. The peculiar characteristic of being well tolerated by ocular tissues and the capability to remain active for many months after a single intravitreal injection, make this drug a safe and effective alternative. In the past decade, intravitreal injection of TA (IVTA) has emerged as a useful treatment of several ocular diseases such as uveitis, macular edema secondary to retinal vasculature disease, neovascularisation and vitreoretinopathy. In this paper, we review all the available evidence of its use in AMD as mono-therapy or in combination with other treatments, and we discuss which role TA will play in the treatment of AMD in the future. The first experiences with IVTA as monotherapy for the treatment of exudative AMD reported a positive outcome in transiently reducing the leakage from CNV. However, in the long-term follow-up, IVTA as monotherapy had no effect on the risk of severe visual acuity loss, despite a significant anti-angiogenic effect found 3 months after the treatment. Consequently, studies using the combination of IVTA and photodynamic therapy (PDT), which acts synergistically, were performed. They reported to improve vision and to reduce the number of re-treatments with PDT. A large number of publications confirmed the positive synergic role of combining TA and PDT (therapies) for the treatment of all types of CNV: classic or predominantly classic, occult or minimally classic and RAP (Retinal Angiomatous Proliferation) lesions. The advantages registered with the use of IVTA plus PDT compared to PDT alone were partially limited by the side effects, such as the rapid evolution of cataract. Nevertheless, cataract surgery may stimulate the development of CNV (result in stimulating CNV). However, in large, randomized, clinical trials on combination therapy of TA and PDT, visual acuity failed to show an improvement, even though the lesion size and subretinal fluid had decreased, compared to controls treated with PDT alone. Some authors reported an increased risk of developing macular atrophy after the combination therapy with IVTA and PDT. Reduction of the PDT fluence rate in association with the use of steroids resulted in reducing the risk of macular atrophy and in a better visual acuity outcome. The introduction of anti-VEGF-based drugs has revolutionized the treatment of AMD and has replaced all the previous therapies used for CNV. Visual improvement becomes an expectation in a higher proportion of patients, previously limited to minimizing vision loss. Anti-VEGF therapy also resulted in superior visual improvement compared to all types of combination therapy with IVT and PDT. Nevertheless, anti-VEGF monotherapy also has many limitations due to the need of repetitive treatments, increased costs and tachyphylaxis. Treatment regimens involving TA in combination therapy with anti-VEGF and PDT may preserve benefits for substantially longer periods. A question remains open on whether a combination treatment with anti-VEGF, triamcinolone and/or PDT may be a treatment option in patients with exudative AMD, by offering, with one cycle of therapy, functional VA benefits comparable to those observed with continued monthly anti-VEGF therapy. Further trials, of higher scientific significance, are needed to study the potential of these treatment options.

Human Retinal Disease fromAIPL1Gene Mutations: Foveal Cone Loss with Minimal Macular Photoreceptors and Rod Function Remaining

To determine the human retinal phenotype caused by mutations in the gene encoding AIPL1 (Aryl hydrocarbon receptor-interacting protein-like 1) now that there are proof-of-concept results for gene therapy success in Aipl1-deficient mice. Leber congenital amaurosis (LCA) patients (n = 10) and one patient with a later-onset retinal degeneration (RD) and AIPL1 mutations were studied by ocular examination, retinal imaging, perimetry, full-field sensitivity testing, and pupillometry. The LCA patients had severe visual acuity loss early in life, nondetectable electroretinograms (ERGs), and little or no detectable visual fields. Hallmarks of retinal degeneration were present in a wide region, including the macula and midperiphery; there was some apparent peripheral retinal sparing. Cross-sectional imaging showed foveal cone photoreceptor loss with a ring of minimally preserved paracentral photoreceptor nuclear layer. Features of retinal remodeling were present eccentric to the region of detectable photoreceptors. Full-field sensitivity was reduced by at least 2 log units, and chromatic stimuli, by psychophysics and pupillometry, revealed retained but impaired rod function. The RD patient, examined serially over two decades (ages, 45-67 years), retained an ERG in the fifth decade of life with abnormal rod and cone signals; and there was progressive loss of central and peripheral function. AIPL1-LCA, unlike some other forms of LCA with equally severe visual disturbance, shows profound loss of foveal as well as extrafoveal photoreceptors. The more unusual late-onset and slower form of AIPL1 disease may be better suited to gene augmentation therapy and is worthy of detection and further study.