A Case of Angioid Streaks in Congenital Dyserythropoietic Anaemia Type II

The authors describe a case report of retinal angioid streaks (AS) in a patient with congenital dyserythropoietic anaemia (CDA) type II and compare the retinal findings to those of an affected first-degree relative without ocular manifestations of the disease. A 52-year-old man with a confirmed diagnosis of CDA type II has been dependent on treatment with regular transfusions and chelating agents. He presents with bilateral retinal AS. The subject’s brother, who also has CDA type II, underwent splenectomy in childhood, and has required no treatment since then. He has no ocular manifestations of the disease. To the authors’ knowledge, this is only the second time that the presence of retinal AS has been reported in a case of CDA type II. It has been reported more frequently with CDA types I and III. The milder course of disease in the subject’s brother likely accounts for the differing retinal findings. The authors explore the pathophysiology of AS in this disease, and the differential diagnosis of chelating agent toxicity. Diagnostic uncertainty around retinal findings can lead to withholding of essential systemic treatment and inappropriate ophthalmological follow-up. It is recommended that all patients with CDA undergo eye examinations.

A case report: pseudoxanthoma elasticum diagnosed based on ocular angioid streaks and the curative effect of Conbercept treatment

Background This article is a case report of pseudoxanthoma elasticum (PXE) which was diagnosed based on significant angioid streaks (AS) with choroidal neovascularization (CNV) and regain normal visual function by intravitreal injection with Conbercept. Case presentation A 51-year-old woman was referred to the Ophthalmology Department of Qingdao Municipal Hospital (Qingdao, China) on September 14, 2020 for metamorphopsia and loss of vision in the left eye in the preceding three days. Past history: high myopia for more than 30 years, best corrected visual acuity (BCVA) of both eyes was 1.0 (5 m Standard Logarithm Visual Acuity chart in decimal notations), hypertension for six years, and cerebral infarction two years ago, no history of ocular trauma or surgeries or similar patients in family was documented. We used methods for observation, including fundus examination, optical coherence tomography (OCT), fluorescein angiography combined with indocyanine green angiography (FFA + ICGA). Due to her symptoms and manifestations, along with the appearance of her neck skin, which resembled ‘chicken skin’, we speculated that she should be further examined at the Department of Dermatology by tissue paraffin section and molecular pathology analyses, and the diagnosis of PXE was then confirmed. After intravitreal injection with Conbercept (10 mg/ml, 0.2 ml, Chengdu Kanghong Biotechnologies Co., Ltd.; Chengdu, Sichuan, China) she regained her BCVA. Conclusions This patient regained her best corrected visual acuity through intravitreal injection with Conbercept. To the best of our knowledge, no publications are available on cases in which a vision loss and the normal visual function can be reverted by intravitreal injection with Conbercept. Although PXE is a disease with low incidence and thus no effective cure established, targeted symptomatic treatment can effectively retard the disease progression and improve visual function, such as intravitreal injection with Conbercept.

Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks

This study aimed to characterize Korean patients with pseudoxanthoma elasticum (PXE) presenting with angioid streaks. Retinal phenotypes were longitudinally evaluated by multimodal ophthalmic imaging, and targeted gene panel sequencing for inherited retinal diseases was conducted. Seven subjects from unrelated families (median age, 51.2 years) were enrolled and followed for a median of 3.2 years. Four asymptomatic patients were significantly younger than three symptomatic patients with decreased visual acuity at presentation (mean age; 38.1 vs. 61.5 years, p = 0.020). The asymptomatic patients maintained good vision (20/32 or better) and had no choroidal neovascularization (CNV) over the observation period. The symptomatic patients showed additional reduction in visual acuity and bilateral CNV occurrence during the longitudinal follow-up. Pathogenic ABCC6 variants were identified in all patients, leading to a diagnosis of PXE. Heterozygous monoallelic variants were identified in four patients and compound heterozygous variants were detected in three patients. Nine ABCC6 variants were identified, including one novel variant, c.2035G>T [p.Glu679Ter]. This is the first genetic study of Korean patients with PXE.

A Case of Papillophlebitis Caused by the Contraceptive Implant in a Healthy Young Woman with Angioid Streaks

Introduction: Papillophlebitis is a rare condition that has a high probability of misdiagnosis due to its puzzling resemblance to common conditions, especially Central Retinal Vein Occlusion (CRVO) and papillitis. Methods: We present an interesting case of a 30-year-old healthy woman with mild CRVO in the right eye associated with ocular pain on upgaze, visual field defect, dyschromatopsia, and desaturation of red color along with initially normal visual acuity, nondetectable relative afferent pupillary defect, and normal foveal reflex. She underwent a subdermal etonogestrel implant (progestin) by a gynecologist two months before presentation. Following the removal of the progestin implant by her gynecologist, we started the patient on intravenous methylprednisolone (500mg daily for 3 days). Results: This combination of incomplete features of CRVO and papillitis guide us to the diagnosis of atypical papillophlebitis. The fundi showed a typical appearance of angioid streaks. The association between papillophlebitis and angioid streaks was unclear. After a thorough review of the literature, no correlation was found, indicating that angioid streak is only an incidental finding. Conclusion: The patient’s condition improved with systemic steroid administration, and complete visual recovery was noted after one year, despite the presence of macular ischemia and nerve fiber layer atrophic changes on Optical Coherence Tomography (OCT) and OCT angiography.

Progression from Type 2 Macular Neovascularization to Fibrovascular Pigment Epithelial Detachment

The aim of this study was to report unusual progression of type 2 macular neovascularization (MNV) associated with age-related macular degeneration (AMD), high myopia or angioid streaks. Retrospective multicentric observational case series data were used. Eyes that progressed from type 2 MNV secondary to AMD, high myopia or angioid streaks to fibrovascular pigment epithelial detachment (PED) were included. A total of 29 treatment-naive eyes from 29 patients with type 2 MNV secondary to AMD (n = 14), high myopia (n = 10) or angioid streaks (n = 5) that progressed to a fibrovascular PED on Spectral Domain-Optical Coherence Tomography were used. This progression occurred within 3 months after anti-VEGF therapy initiation. Logarithm of minimum angle of resolution (LogMAR) visual acuity improved significantly after anti-VEGF therapy, from 0.55 (SD ± 0.30) (20/63–20/80) at baseline to 0.30 (20/40) at 3 months, and 0.33 (20/40) at the final follow-up (mean follow up: 3.68 years). Mean number of intravitreal injections per year for patients with a total follow-up ≥ 12 months (n = 24) was 4.3 ± 2.1 per year. Progression from type 2 MNV to a fibrovascular PED may occur in patients suffering from AMD, high myopia or angioid streaks. This progression appears early after initiation of anti-VEGF therapy and is associated with a favorable visual and anatomical outcome, at least on a short follow up basis.