Fundus Appearance Research Articles

Retinitis Pigmentosa; Epidemiology, Pathophysiology, and Classification

Retinitis pigmentosa (RP) is the most common hereditary retinal degeneration. It primarily affects rods and then cone photoreceptors. RP manifests with night blindness and concentric visual field loss, reflecting the dysfunction of rod photoreceptors. Central visual acuity loss occurs last period of disease due to cone dysfunction; otherwise, macula involvements like cystoid macular edema. Classically described fundus appearance of RP includes mottling and granularity of the retina pigment epithelium, bone spicule intraretinal pigmentation, attenuated retinal vessels, and optic disc head pallor. RP can be transmitted as Mendelian’s an autosomal dominant, autosomal recessive, or X-linked trait. Mitochondrial or digenic forms also rarely have been described. However, the sporadic or simplex form is the most commonly seen in the clinic. Recently great progress has been made in the identification of the causative genes. This review presents a comprehensive overview of the clinical, genetic, and fundus photography, optical coherence tomography, fundus autofluorescence, microperimetry dark adaptometer, and ocular electrophysiology characteristics of RP.

Stargardt and Fundus Flavimaculatus; Pathophysiology, Clinical Findings, Imaging Characteristics, and Diagnosis

Stargardt disease (STGD) is the most common form of recessively inherited macular dystrophy. It is characterized by the presence of an atrophic macular lesion, which is surrounded by irregular, white-yellow, deep retinal lesions (flecks). There is wide variability in age at onset, visual acuity, fundus appearance, and severity of the disease. Fundus examination can be normal but visual acuity can be reduced early in the course of the disease. In these patients, pattern electroretinogram (PERG) and fundus autofluorescence (FAF) will be helped in establishing the diagnosis of STGD. The typical sign of “choroidal silence” or dark choroid on fluorescein angiography (FA) is not present in all patients with STGD and is not specific to this condition.

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.

PurposeBiallelic crumbs cell polarity complex component 1 (CRB1) mutations can present as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or cystic maculopathy. This study reports a novel phenotype of asymptomatic fenestrated slit maculopathy (AFSM) and examines macular volume profile and microperimetry as clinical trial end points in CRB1-associated retinopathies.MethodsTwelve patients from nine families with CRB1 mutation were recruited. Ultra-widefield (UWF) color fundus photography and autofluorescence (AF), spectral-domain optical coherence tomography (SD-OCT), microperimetry, and adaptive optics (AO) imaging were performed. Macular volume profiles were compared with age-matched healthy controls. Genotyping was performed using APEX genotyping microarrays, targeted next-generation sequencing, and Sanger sequencing.ResultsWe identified one patient with LCA, five patients with RP, and four patients with macular dystrophy (MD) with biallelic CRB1 mutations. Two siblings with compound heterozygote genotype (c.[2843G>A]; [498_506del]) had AFSM characterized by localized outer retinal disruption on SD-OCT and parafoveal cone loss on AO imaging despite normal fundus appearance, visual acuity, and foveal sensitivity. UWF AF demonstrated preserved para-arteriolar retinal pigment epithelium (PPRPE) in all patients with RP. Microperimetry documented preserved central retinal function in six patients. The ratio of perifoveal-to-foveal retinal volume was greater than controls in 89% (8/9) of patients with RP or MD, whereas central subfield and total macular volume were outside normal limits in 67% (6/9).ConclusionsAO imaging was helpful in detecting parafoveal cone loss in asymptomatic patients. Macular volume profile and microperimetry parameters may have utility as CRB1 trials end points.Translational RelevanceMacular volume and sensitivity can be used as structural and functional end points for trials on CRB1-associated RP and MD.

Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.

To determine the utility of ophthalmology evaluation, dark-adapted threshold, and full-field electroretinogram for early detection of Usher syndrome in young patients with bilateral sensorineural hearing loss. We identified 39 patients with secure genetic diagnoses of Usher Syndrome. Visual acuity, spherical equivalent, fundus appearance, dark-adapted threshold, and full-field electroretinogram results were summarized and compared to those in a group of healthy controls with normal hearing. In those Usher patients with repeated measures, regression analysis was done to evaluate for change in visual acuity and dark-adapted threshold with age. Spherical equivalent and full-field electroretinogram responses from dark- and light-adapted eyes were evaluated as a function of age. The majority of initial visual acuity and spherical equivalent results were within normal limits for age. Visual acuity and dark-adapted threshold worsened significantly with age in Usher type 1 but not in Usher type 2. At initial test, full-field electroretinogram responses from dark- and light-adapted eyes were abnormal in 53% of patients. Remarkably, nearly half of our patients (17% of Usher type 1 and 30% of Usher type 2) would have been missed by tests of retinal function alone if evaluated before age 10. Although there is an association of abnormal dark-adapted threshold and full-field electroretinogram at young ages in Usher patients, it appears that a small but important proportion of patients would not be detected by tests of retinal function alone. Thus, genetic testing is needed to secure a diagnosis of Usher syndrome.

Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

BackgroundFemale-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis.ResultsWe found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation.ConclusionsThis is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.

Establishment of a pigmented murine model abundant with characteristics of retinal vein occlusion

Retinal vein occlusion (RVO) is a vascular disease that represents characteristic retinal hemorrhage and dilated retinal veins. Despite its clinical importance, its pathogenesis remains largely unknown because of limited opportunities to acquire human retinal samples. Therefore, an animal model that reproduces the clinical features of RVO patients is required for further investigation. In this study, we established a pigmented murine RVO model that reproduced characteristic fundus appearances similar to human RVO findings. Retinal edema in this model was observed in both optical coherence tomography and histological analysis, which is a clinically important outcome. With quantitative real-time PCR analysis on retinal samples, we revealed that the mRNA level of vascular endothelial growth factor (VEGF) increased in the retina induced RVO. Moreover, this retinal edema was reduced by intravitreal injection of anti-VEGF antibody. These results were consistent with human clinical knowledge and suggested that this model could be a useful tool for research into new therapeutic approaches.

Fundus changes in high myopic Kashmiri population

Background: High myopia (defined as myopia of -6D or more) is one of the main causes of visual impairment worldwide. High myopia is always accompanied by pathological structural changes such as axial elongation, posterior staphyloma, lacquer crack formation, thinning of the retina and choroid, and choroidal neovascularization.
 Aims and Objectives: The purpose of this study was to examine the fundus changes in eyes with high myopia.
 Materials and Methods: All study participants underwent dilated fundus examination and fundus photography. Myopia-related macular (posterior staphyloma, lacquer cracks, Fuchs spot, myopic chorioretinal atrophy, and myopic choroidal neovascularization)and optic disc (optic nerve head tilt,optic disc dimensions, and peripapillary atrophy) changes were evaluated.
 Results: Statistical analysis was performed to evaluate fundus changes in eyes with high myopia. Data analysis included 107 eyes of 57 patients.Mean ± SE was 12.07 ± 3.184D in eyes with high myopia. Mean ± AL was 26.68± 1.577mm in eyes with high myopia. The mean age was 28.54 ± 9.44 years(14-50 years). Fundus changes were: Temporal crescent in 56 (52.33%) eyes, tessellated fundus appearance in 52(48.59%) eyes, lacquer cracks in 40 (37.38%) eyes, tilted disc in 30 (28%) eyes, lattice degeneration in 20(18.69%) eyes, posterior staphyloma in 20(18.69%) eyes, focal chorioretinal atrophy in 3 (2.8%) eyes. CNV in 2 (1.86%)eyes and retinal hole in 1(1%) eye.
 Conclusions: Tessellated fundus and temporal crescent were the most common fundus findings among Kashmiri population with high myopia. In this population, lacquer cracks and tilted disc were also common, while CNV and retinal holes were rare.

Clinical and electroretinographic profile of 27 patients with Stargardt disease treated at a hospital in Brazil.

Stargardt disease is the most common type of juvenile-onset macular dystrophy. It is bilateral and symmetrical in appearance, affects the macula, and its main characteristic is the loss of central vision that starts in the first or second decade of life. The purpose of this study was to describe the profile of the patients evaluated at the Complexo Hospital de Clínicas da Universidade Federal do Paraná, as well as describe the electroretinographic findings with the full-field electroretinogram in these patients. An observational, retrospective study was performed by analysis of records and electroretinographic examinations of 27 patients with Stargardt disease and fundus flavimaculatus who were treated at the Complexo Hospital de Clínicas da Universidade Federal do Paraná's Department of Ocular Electrophysiology and Neuro-Ophthalmology between 1997 and 2014. The patients included in this study presented clinical features, fundus examination and/or electroretinographic findings compatible with Stargardt disease. The visual acuity in the best eye varied from 0 to 1.6 logMAR (20/20 to 20/800) with an average of 0.89 ± 0.42 logMAR. The age at onset of symptoms varied from since birth to 36 years old (average 19.2 ± 9.2) with the majority of patients having symptom onset in the first or second decade of life. The mean time from the disease's first symptoms until the diagnosis was 7.3 years. In the fundus examination, every patient presented some kind of abnormality. In the electroretinogram analysis, the majority of patients had results that differed from those of sample controls, i.e., reduced amplitude and increased implicit time in the photopic and scotopic phases. The visual acuity and the age at symptoms onset in this study were compatible with the natural history of this dystrophy. The typical fundus appearance of Stargardt disease and altered electroretinogram were more frequent because of the delay until diagnosis. New prospective studies are necessary to evaluate these patients based on emergent technologies.

Pigmented Paravenous Chorioretinal Atrophy: Clinical Spectrum and Multimodal Imaging Characteristics

To investigate the clinical findings and natural course of patients with pigmented paravenous chorioretinal atrophy (PPCRA) using multimodal imaging. Retrospective, observational case series. We reviewed the records of consecutive patients diagnosed with PPCRA at a single center and assessed serial fundus photographs, fundus autofluorescence (FAF), and spectral-domain optical coherence tomography images. Electrophysiological findings and visual field analysis were also reviewed. The study included 50 eyes in 25 patients. The mean age of the population was 51.6 ± 14.6 years. Nine patients (36.0%) were asymptomatic and 9 (36.0%) complained of nyctalopia. We divided fundus appearance into one of 3 groups: paravenous (58.0%), focal (16.0%), and confluent (26.0%). Of the 50 eyes, macular involvement was present in 13 eyes (26.0%). Fifteen patients (60.0%) demonstrated a symmetric fundus appearance, whereas 10 (40.0%) had marked asymmetry. Eight eyes (16.0%) exhibited apparent changes in fundus findings, over a mean follow-up period of 8.8 years. FAF imaging was most sensitive to evaluate the extent of lesions. Sixteen eyes (44.4%) showed progressive visual field loss during the follow-up period. Most patients maintained stable vision, and 36 eyes (72.0%) had a final visual acuity of 20/50 or better. Nevertheless, some eyes with macular involvement experienced severe deterioration in vision. Electrophysiological data were variable, and interocular asymmetry was common (45.8%). PPCRA can present with a more variable expressivity than previously described. Multimodal imaging can provide insights into its clinical characteristics to facilitate the diagnosis, classification, and follow-up of these patients.

Fundoscopic characteristics in three cases of familial hyperchylomicronaemia

Abstract Cases Report Three cases are presented of patients with familial hyperchylomicronaemia and lipaemia retinalis, in whom an analysis is made of the fundoscopic characteristics of each of them. Discussion The typical appearance of the retinal fundus is pale salmon coloured and corresponds to levels of severe lipaemia retinalis. As regards the findings, the vascular tree tonality is probably the best exploratory evidence to help in the ophthalmological diagnosis.

Acute unilateral inner retinal dysfunction with photophobia: importance of electrodiagnosis.

To establish with negative electroretinogram (ERG) the clinical entity of eight patients with unilateral severe photophobia, essentially normal fundus, good visual acuity, and severe cone and rod dysfunction. Multicenter retrospective observation case series. Comprehensive ophthalmologic examinations were performed, including best-corrected visual acuity (BCVA), full-field ERGs and multifocal ERGs (mfERGs), fundus photographs, and OCT. Systemic and genetic examinations were performed. The mean (± SD) age at the onset was 60.0 ± 8.4years, and the six patients noticed severe photophobia in the affected eye in spite of almost normal fundus appearance and good BCVA. The dark-adapted bright flash ERGs in the affected eye had relatively well-preserved a-waves and depressed b-waves, i.e., a negative ERG. Cone ERGs and both b- and d-waves of the photopic long-duration ERGs were almost undetectable. Rod ERGs were severely reduced; however, only two patients complained of night blindness. In five patients, the mfERGs were extinguished in the periphery but preserved in the central retina, resulting in good BCVA. Electrophysiological findings indicated a severe diffuse dysfunction of the inner retina affecting bipolar cells of both ON- and OFF-pathways, and in five patients there was a reduction in the thickness of the inner nuclear layer. In seven patients the retinal arteries were attenuated. Anti-retinal antibodies were detected in the serum of two patients. No genetic causes were found. The common features in the eight patients with unilateral negative ERGs suggest a new disease entity of unilateral acute inner retinal layer dysfunction. In most patients, the only subjective complain was photophobia.

Predictive Biomarker for Progression Into the Sunset Glow Fundus of Vogt-Koyanagi-Harada Disease, Using Adaptive Binarization of Fundus Photographs.

PurposeThe sunset glow fundus (SGF) appearance in Vogt-Koyanagi-Harada (VKH) disease was evaluated by means of adaptive binarization of patients’ fundus photographs.MethodsTwenty-nine Japanese patients with acute VKH were enrolled in this study. We evaluated one eye of each patient, and thereby divided the patients into two groups; SGF+ and SGF− at 6 months after treatment. We compared patient age, gender, and spherical equivalent refractive error (SERE) and choroidal thickness measured using optical coherence tomography. We also compared the choroidal vascular appearance index (CVAI), derived by adaptive binarization image processing of fundus photographs, between the two groups. Measurements of choroidal thickness and CVAI were taken at the onset of disease, and 1, 3, and 6 months after treatment. The sunset glow index (SGI), as previously reported, was calculated using color fundus photographs, and compared to the CVAI.ResultsEight patients (27.6%) were categorized into the SGF+ group. At all time points, the mean CVAI in the SGF+ group was significantly greater than that in the SGF− group. No significant difference was observed in choroidal thicknesses at any time point. The SGI was significantly greater in the SGF+ group at 6 months.ConclusionsCVAI could be a new predictive biomarker for the development of SGF in patients with VKH disease.Translational RelevanceDetecting SGF is important for management of patients with VKH, and CVAI may indicate the possibility of developing into SGF, although the color fundus photographs do not yet show SGF at that time.

Optic Nerve Sheath Fenestration (ONSF)

Objectives. Optic nerve sheath fenestration (ONSF) is commonly used in idiopathic intracranial hypertension (IIH). Here we will present our experiences of ONSF in 26 patients with special attention to indications, surgical techniques and results Methods. The recorded data of patient management (with the result) who underwent ONSF were reviewed and studied retrospectively. Results. The total number of patients who underwent ONSF was 26. The male-female ratio was 1:12. Indications of ONSF were: 1. Idiopathic Intracranial Hypertension (IIH)-23 cases; 2. Cerebral Venous Sinus Thrombosis (CVST)-02 cases; 3. CNS Tuberculosis-01case. All patient underwent bilateral ONSF with post-operative continues lumbar CSF drain for 04 days. After fenestration gush of CSF came out with force in all-first operated eyes whereas 13-second operated eyes showed very little CSF flow after fenestration. Vision improved in different grades in all cases at discharge except in three cases. Preoperatively, visual acuity was either PL&PR or hand movement in 40 eyes where 04 eyes were preoperatively total blind (no PL&PR). Visual acuity improved in 48 eyes (92.3% eyes) where the patient can do his/her daily life activities including self-care. Improvement in IIH is 100% (23 cases i.e-46 eyes) whereas 01 case out of 02 cases in CVST. Though vision was improved dramatically fundal appearances changes very slowly and very less frequently returned to normal appearance. Conclusion. Due to the delicate and technically demanding nature of the surgery, safety is a major concern of the ONSF. Our experience showed ONSF is a technically safe operation with very good results where indicated.

Paracentral acute middle maculopathy-review of the literature.

Paracentral acute middle maculopathy (PAMM) is a recently identified spectral-domain optical coherence tomography (SD-OCT) finding characterized by a hyper-reflective band spanning the inner nuclear layer (INL), which typically evolves to INL atrophy in later stages. Typical clinical features include the sudden onset of one or multiple paracentral scotomas, normal or mild reduction in visual acuity, and a normal fundus appearance or a fundus with a deep grayish lesion. Although its pathophysiology is not yet fully understood, ischemia at the level of the intermediate and deep capillary plexa has been demonstrated to play a major role. Since its first description, an increasing number of publications on PAMM have been published in ophthalmology scientific journals. The purpose of this study is to provide a review of the current literature on PAMM.

Características fundoscópicas en tres casos de hiperquilomicronemia familiar

Cases reportThree cases are presented of patients with familial hyperchylomicronaemia and lipaemia retinalis, in whom an analysis is made of the fundoscopic characteristics of each of them. DiscussionThe typical appearance of the retinal fundus is pale salmon coloured and corresponds to levels of severe lipaemia retinalis. As regards the findings, the vascular tree tonality is probably the best exploratory evidence to help in the ophthalmological diagnosis.

New techniques for quantification of color vision in disorders of cone function : Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygous RP1L1 and RPGR mutations

HintergrundErbliche Netzhauterkrankungen mit Zapfendysfunktion können trotz relativ unauffälligem Fundusbefund ausgeprägte Visusminderung und deutliche Farbsinnstörungen aufweisen. Beispiele hierfür sind die autosomal-dominante okkulte Makuladystrophie (RP1L1-Gen) und die X‑chromosomale Retinitis pigmentosa (RPGR-Gen) – Letztere auch bei heterozygoten, weiblichen Merkmalsträgerinnen (Konduktorinnen). Neue Untersuchungsmethoden erlauben es, das Ausmaß der Farbsinnstörung zu quantifizieren.MethodenNach einer umfangreichen klinischen Untersuchung führten wir Messungen zur Quantifizierung der Farbdiskriminierung und der Zapfenfunktion durch. Beim Cambridge-Color-Test werden pseudoisochromatische Tafeln mit Landolt-C-Figuren computergesteuert generiert, um die Farbunterscheidungsschwelle entlang mehrerer Achsen im Farbraum zu bestimmen. Bei der Untersuchung der photorezeptorspezifischen zeitlichen Kontrastempfindlichkeit kann durch geschickte zyklische Veränderung der spektralen Zusammensetzung eines Lichtreizes die Kontrastwahrnehmungsschwelle isolierter Photorezeptortypen bestimmt werden. Die molekulargenetische Diagnostik erfolgte mithilfe von Next Generation Sequencing(NGS)-basierter gezielter Genpanelanalyse sowie Sanger-Sequenzierung.ErgebnisseBei 2 Patienten mit okkulter Makuladystrophie und 2 heterozygoten Trägerinnen von RPGR-Mutationen zeigten sich eine deutlich verminderte Fähigkeit zur Farbdiskriminierung und eine verminderte photorezeptorspezifische zeitliche Kontrastempfindlichkeit.DiskussionBei erblichen Netzhauterkrankungen sind neben den modernen bildgebenden Verfahren (okuläre Kohärenztomographie [OCT] und Fundusautofluoreszenz) auch die sinnesphysiologischen Untersuchungen diagnostisch wegweisend – der Nachweis von Farbsinnstörungen spielt hierbei eine wichtige Rolle. Neuere Methoden erlauben eine Quantifizierung der Farbsinnstörungen und könnten in klinischen Studien zu gen- und stammzellbasierter Therapie zur Messung des Therapieerfolges dienen.

A spectral-domain optical coherence tomographic analysis of Rdh5-/- mice retina.

To investigate the longitudinal findings of spectral-domain optical coherence tomography (SD-OCT) in relation to the morphologic features in Rdh5 knockout (Rdh5-/-) mice. The mouse retina was segmented into four layers; the inner retinal (A), outer plexiform and outer nuclear (B), rod/cone (C), and retinal pigment epithelium (RPE)/choroid (D) layers. The thickness of each retinal layer of Rdh5-/- mice was longitudinally and quantitatively measured at six time points from postnatal months (PM) 1 to PM6 using SD-OCT. Age-matched C57BL/6J mice were employed as wild-type controls. The data were statistically compared using Student's t-test. The fundus appearance was assessed, histologic and ultrastructural examinations were performed in both groups. Layers A and B were significantly thinner in the Rdh5-/- mice than in the wild-type C57BL/6J mice during the observation periods. Layers C and D became thinner in the Rdh5-/- mice than in the wild-type mice after PM6. Although no abnormalities corresponding to whitish fundus dots were detected by SD-OCT or histologic examinations, the intracellular accumulation of low-density vacuoles was noted in the RPE of the Rdh5-/- mice by electron microscopy. The photoreceptor nuclei appeared less dense in the Rdh5-/- mice than in the wild-type mice. The results from the present study suggest that although it is difficult to detect qualitative abnormalities, SD-OCT can detect quantitative changes in photoreceptors even in the early stage of retinal degeneration induced by the Rdh5 gene mutation in mice.

A case of bilateral endogenous endophthalmitis misdiagnosed as Purtscher\u2019s retinopathy

BackgroundPurtscher’s retinopathy characterized by the appearance of cotton-wool spots and intraretinal hemorrhage at the posterior pole that commonly occurs after severe head and chest trauma. We report a patient who presented with multiple white retinal patches and retinal hemorrhage forty-two days after a severe thoracoabdominal trauma, which was misdiagnosed as Purtscher’s retinopathy.Case presentationA middle-aged woman presented to the eye clinic complaining of decreased vision and distortion in the right eye forty-two days after thoracoabdominal trauma. Upon first glance at her fundal appearances with multiple white retinal patches and retinal hemorrhage, we considered it to be bilateral Purtscher’s retinopathy. No specific treatment was given to her. Ten days later, the four white retinal patches in the right eye joined together with star-shaped hard exudates and radial folds in the macula. This was not consistent with the characteristics of Purtscher’s retinopathy. In retrospect, we found that the onset time, shape, and location of the white retinal patches were not cotton-wool spots. A detailed history revealed that she had Staphylococcus aureus septicaemia due to abdominal incision infection, and she underwent intravenous antibiotic therapy. Fundus fluorescein angiography (FFA) revealed hyperpermeable vasculature and extensive fluorescence leakage in the middle and late stages. Optical coherence tomography (OCT) revealed highly reflective exudates in the neuroepithelium and macular edema in the right eye. Taking her history and the FFA and OCT results into consideration, she was diagnosed with bilateral endogenous endophthalmitis.ConclusionIn the present case, multiple white patches and intraretinal hemorrhage at the posterior pole forty-two days after the trauma were not Purtscher’s retinopathy. It was bilateral endogenous endophthalmitis. The subretinal abcesses that developed secondary to Staphylococcus aureus infection involved the macula causing decreased vision and distortion in the right eye. We concluded that in the case of multiple white retinal patches at the posterior pole in patients after trauma, especially in patients with infectious disease, Purtscher’s retinopathy is not the only possible diagnosis. Correct diagnosis depends on reevaluation of the lesions by FFA and OCT, laboratory investigation and detailed history.

An HIV-infected patient with acute retinal necrosis as immune reconstitution inflammatory syndrome due to varicella-zoster virus.

An HIV-infected patient with acute retinal necrosis as immune reconstitution inflammatory syndrome due to varicella-zoster virus.

Retinal and visual function in infants with non-accidental trauma and retinal hemorrhages.

To investigate retinal function and visual outcomes in infants with retinal hemorrhages due to non-accidental trauma (NAT). This is a retrospective review of full-field or multifocal electroretinogram (ERG) recordings, visual acuity in log minimum angle of resolution (logMAR), clinical status, and neuroimaging. Multifocal ERGs from the central 40° were compared to corresponding fundus imaging. Visual acuity was measured by Teller cards at follow-up. ERGs were compared to controls recorded under anesthesia. Sixteen children met inclusion criteria (14 recorded during the acute phase and 2 during long-term follow-up). During the acute phase, ERGs (n = 4 full field; n = 10 multifocal ERG) showed abnormal amplitude, latency, or both in at least one eye. Ten subjects had significantly reduced responses in both eyes, 3 of which had an ERG dominated by a negative waveform (absent b-wave or P1). The remaining six subjects had responses in one eye that were near normal (≥ 50% of controls). ERGs were sometimes abnormal in local areas without hemorrhage. ERGs could be preserved in local areas adjacent to traumatic retinoschisis. Two subjects with reduced visual acuity had belated ERGs: One had an abnormal macular ERG and the other had a normal macular ERG implying cortical visual impairment. At follow-up, 10 of 14 subjects had significant visual acuity loss (≥ 0.7 age-corrected logMAR); four subjects had mild vision loss (≤ 0.5 age-corrected logMAR). Visual acuity outcome was not reliably associated with the fundus appearance in the acute phase. All subjects with a negative ERG waveform had severe vision loss on follow-up. Retinal dysfunction was common during the acute phase of NAT. A near normal appearing fundus did not imply normal retinal function, and ERG abnormality did not always predict a poor visual acuity outcome. However, a negative ERG waveform was associated severe visual acuity loss. Potential artifacts of retinal hemorrhages and anesthesia could not fully account for multifocal ERG abnormalities. Retinal function can be preserved in areas adjacent to traumatic retinoschisis.