Maria Fernanda Abalem

Prevalence of Antiretinal Antibodies in Acute Zonal Occult Outer Retinopathy: A Comprehensive Review of 25 Cases

PURPOSE To perform a comprehensive review and to investigate the presence and role of autoimmune antibodies in 25 cases of acute zonal occult outer retinopathy (AZOOR) identified using the classification originally proposed by J. Donald Gass. DESIGN Observational case series. METHODS Setting: Institutional. STUDY POPULATION Twenty-five patients were identified by characteristic symptoms (abrupt onset of photopsias, followed by large scotomata at or connected to the blind spot), ocular findings (paucity of pigmentary changes with no sign of vitreous inflammation and abnormal electroretinogram in at least 1 eye), and a negative family history for retinitis pigmentosa. OBSERVATION PROCEDURES Patients underwent a full comprehensive ophthalmologic examination, fundus retinography, Goldmann kinetic visual field (GVF), and full-field electroretinogram (ffERG). Blood samples were also obtained to verify for the presence of antiretinal antibodies by Western blot analysis. MainOutcome Measures: Clinical presentation, best-corrected visual acuity (BCVA), fundus abnormalities, visual field defects, ffERG changes, and presence of antiretinal antibodies. RESULTS Sixteen patients (64%) presented with photopsias, 56% (14/25) with night blindness, and 56% (14/25) with loss of peripheral vision. Sixty-four percent (16/25) of cases were bilateral. All patients demonstrated retinal vascular attenuation, optic nerve head pallor, and mottling of retinal pigment epithelium. The most common visual field changes included enlargement and expansion of the blind spot extending into large pericentral or other types of scotomata (64%). Both scotopic and photopic ffERG values were abnormal and affected to a similar degree in our patients. Nine patients (36%) had a greater than 20% asymmetry in ERG values between the 2 eyes. All patients had antiretinal antibodies on Western blot with an average of 6.6 bands. CONCLUSION Evidence suggests that AZOOR is a unique form of autoimmune retinopathy and retinal manifestation suggests possible antiretinal antibody leakage from the disc margin with spread of immune products under the retina, resulting in large scotomata that connect to the optic nerve head.

Idiopathic Organ Transplant Chorioretinopathy after Liver Transplantation

Idiopathic organ transplant chorioretinopathy is a rare disease associated with kidney and heart transplantation. We present a case secondary to liver transplantation including its multimodal imaging, differential diagnosis, and physiopathology discussion.

Double hyperautofluorescent ring on fundus autofluorescence in ABCA4

ABSTRACT We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression. At the time of his initial visit, the 6-year-old boy presented with 20/200 OD (right eye) and 20/150 OS (left eye), symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence. Over 4 years of follow-up, the retinal atrophy continued to progress, resulting in two well-defined and concentric hyperautofluorescent rings: one ring located at the posterior pole and the other located around the peripapillary region. Visual acuity also deteriorated to counting fingers at 4ft OD and 20/500 OS. To the best of our knowledge, this phenotype has not been previously described with the ABCA4 gene.

Fundus Autofluorescence in Tay-Sachs Disease

Additional Contributions: We thank Kazuo Tsubota, MD, PhD (Department of Ophthalmology, Graduate School of Medicine, Keio University) for managing the airlift of the Mission Vision Van to Japan from the United States. We also thank the University of Miami Miller School of Medicine, Volga-Dnepr Airlines, MediProduce Inc, Kazumasa Yamagata, MD, PhD (president of the Miyagi Ophthalmologists Association), the Japanese government for their support of the Mission Vision Van project, and the staff of the Department of Ophthalmology, Graduate School of Medicine, Tohoku University.

Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis

ABSTRACT Background: To evaluate diurnal variations in macular schisis cavities in patients with X-linked juvenile retinoschisis (XLRS) with pathogenic variants in the RS1 gene using spectral-domain optical coherence tomography (SD-OCT). Methods: Three consecutive patients with a clinical diagnosis of XLRS and pathogenic variants in the RS1, treated with carbonic anhydrase inhibitors (CAIs). Observational procedures: SD-OCT scans of the macula were acquired at 9 a.m., 1 p.m., and 4 p.m. within 24 h. Results: All patients demonstrated increased measures of central foveal thickness in the morning with gradual decrease through the day (9–43%). Major changes were observed between 9 a.m. and 1 p.m. in the central foveal thickness. Conclusion: The central foveal thickness varies during daytime hours in patients with XLRS. This finding may explain the inconsistent and heterogeneous responses to treatment with CAIs and necessitate standardization of measurement times in treatment trials for XLRS as well as in the routine ophthalmic evaluation of these patients.

Nystagmus and Platinum Hair

A 25-year-old woman presented for evaluation of poor vision and photophobia present since childhood. She had fair skin, platinum white hair (Figure 1, left panel), and blue eyes. At age 24 years, she underwent resection of a cutaneous melanoma (stage T1bN1a) from the upper chest, with no signs of recurrence or metastasis. She was of Italian, German, and Slovak ancestry. She had a history of congenital horizontal nystagmus, which was pendular, ie, occurring in 2 phases of equal speed (Video). Best-corrected visual acuities were 20/60 bilaterally. The irides were blue, although by retro-illumination with a light beam perpendicular to the iris plane, they appeared reddish-pink (Figure 1; eFigure in the Supplement).

Unilateral retinopathy in a patient with diabetes and coronary heart disease

A 69 year old man with type 2 diabetes mellitus, obesity, hypertension, and coronary artery disease was referred for diabetic retinopathy screening. He was also undergoing evaluation for transient ischaemic attack after experiencing dizziness and intermittent weakness in the left hand over the past six months. Visual acuities and intra-ocular pressures were normal, and slit lamp examination of the anterior segment of both eyes was unremarkable. Funduscopic examination (figs 1, 2) and wide field fluorescein angiography (fig 3) revealed unilateral retinopathy in the left eye. These unilateral findings prompted concern for carotid disease. Doppler carotid ultrasonography (fig 4) and computed tomography angiography found complete occlusion of the left internal carotid artery. Fig 1 Ultrawide field …

Confluent Endpoint Subthreshold Argon Laser for Serous Macular Detachment in Tilted Disc Syndrome Refractory to Anti-VEGF

A 70-year-old woman presented with 20/200 visual acuity in the right eye. Multimodal imaging revealed tilted disc syndrome (TDS) with macular serous detachment (MSD) and pigmentary changes at the temporal margin of the optic disc. Subretinal fluid persisted after three monthly intravitreal bevacizumab (Avastin; Genentech, South San Francisco, CA) injections and threshold focal laser photocoagulation. Subsequently, confluent subthreshold argon laser was applied over the entire area of retinal pigment epithelium (RPE) abnormalities, resulting in the resolution of subretinal fluid without recurrence through 3 years of follow-up. Subthreshold argon laser treatment may serve as a therapeutic option for MSD in TDS. Targeting leakage sites and stimulating RPE cells might help absorb subretinal fluid. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:760-763.].

Teleophthalmology: where are we now?

Information and communication technology has rapidly reached diverse aspects of modern life, including medicine and health-related matters. Aiming to improve teaching, research, and health care delivery for geographic or economic reasons, telemedicine is an ascending trend. Teleophthalmology might be one of the most challenging applications of telemedicine given its need for standardized and high definition digital images. However, technological advances are enhancing information transmission continuously and expanding the potential of teleophthalmology. In this review, we investigate the evolution and current status of teleophthalmology, describe its use in different areas, and explore its applicability. Although teleophthalmology is not a replacement for traditional eye care and still faces challenges for adequate implementation, it represents an effective care delivery method, facilitating appropriate and timely distribution of service especially in remote and/or underdeveloped regions.

Peripheral pigmented retinal lesions in Stargardt disease

PURPOSE To investigate the prevalence of peripheral pigmented retinal lesions and associated clinical findings in patients with Stargardt disease. DESIGN Retrospective case series. METHODS Records at a single academic institution were reviewed for patients with genetically confirmed Stargardt disease with peripheral pigmented retinal lesions on wide-field retinal imaging. For this cohort we described demographics, clinical features, and pathogenic variants. RESULTS Out of 62 patients with Stargardt disease and wide-field retinal imaging, 14 had peripheral pigmented retinal lesions. These flat, subretinal lesions were located in the mid or far periphery and had well-defined borders, resembling congenital hypertrophy of retinal pigment epithelium (CHRPE) lesions. For this group of 14 patients, median age at initial diagnosis of Stargardt disease was 9.5 years, and the median duration of disease was 21.5 years. Median Snellen visual acuity was 20/200, and median central scotoma size was 20.0 degrees. All 14 patients had electroretinographic abnormalities. Four out of 14 patients developed new lesions during clinical follow-up. CONCLUSIONS Wide-field retinal imaging revealed the presence of peripheral pigmented retinal lesions resembling CHRPE lesions in a subset of patients with genetically confirmed Stargardt disease. Presence of these lesions may be associated with severe phenotypes of the disease.