This case series illustrates clinical features and treatment outcomes of angioid streak associated CNV (AS-CNV) in 3 consecutive patients. Mean age of patients was 43.2 years with one female patient. Bilateral CNV was present in one patient. Comet-tail lesions were present in all cases. No underlying systemic association was found in any of the patients. All patients were treated with 3 loading doses of anti-VEGF injections (ranibizumab in two and aflibercept was used in one case). Subretinal fluid resolved in all cases with no recurrence of CNV activity at mean follow-up of 10.75 months. AS-CNV in Zambian eyes responds favourably to anti-VEGF injections.

OBJECTIVE: To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE).
METHODS: This is a retrospective case series of 62 eyes of 31 elderly PXE patients (age > 50 years). Clinical data, ultra-widefield fundus imaging (color, red-free (RF), infra-red imaging (IR), fundus autofluorescence (FAF)), and OCT examinations were collected. Diagnosis was confirmed by genetic testing or skin biopsy.
RESULTS: Thirty-one patients (10 males and 21 females (mean age 61.3 years, range 50-74 years)) were included in our study. Visual acuity ranged from 20/20 Snellen equivalent to 20/200. The mean follow-up was 66.4 ± 20.7 months (range 10-88). Pattern dystrophy-like changes (PD) (52 eyes of 26 patients, 83.8%) and atrophy resembling the \"diffuse trickling\" pattern described in geographic atrophy were present in the majority of patients. Twenty-three eyes of 12 patients (67.6%) had peripapillary atrophy, 9 eyes of 5 patients (26.4%) macular atrophy, 6 eyes of 3 patients (17.6%) displayed posterior pole atrophy and in 6 eyes of 3 patients (17.6%), atrophy could be detected beyond the vascular arcades (mid-peripheral atrophy). End-stage atrophy covered the entire area indicated as \"coquille d\'oeuf\" (eggshell). Choroidal neovascularization occurred in 49 eyes of 26 patients (94.2%) with PD and in 6 eyes of 3 patients (60%) without PD. Genetic examinations were available for 29 patients (29/31, 93.5%).
CONCLUSIONS: The elderly PXE patients were characterized by pattern dystrophy-like changes with more or less extensive atrophy, progressive over time, which in some cases affected the whole area of the coquille d\'oeuf during the course of the disease.

OBJECTIVE: To present a case of gigantic idiopathic angioid streaks.
METHODS: A young male presented with macular choroidal neovascular membrane (CNVM) and peripheral retinal hemorrhages secondary to angioid streaks. Swept source optical coherence tomography (SSOCT) and ultrawide field imaging were performed. The latter revealed extension of the angioid streaks up to the equator in both eyes. SSOCT showed breaks in the retinal pigment epithelium-Bruch\'s membrane complex in the area of peripheral retinal hemorrhages. The patient was extensively worked up for systemic associations, and the only significant finding was a long history of steroid abuse in the past.
CONCLUSIONS: Advanced imaging techniques helped to diagnose angioid streaks in this patient. The possible role of steroid abuse in accentuating the presentation of angioid streaks may be explored further.

Purpose: To evaluate the fundus phenotype of young patients affected with Pseudoxantoma Elasticum (PXE). Materials and Methods: Retrospective case series of five young PXE patients. Clinical data, ultra-widefield imaging (color, red-free (RF), choroidal (Ch) and fundus autofluorescence (FAF)) and OCT examination were collected. Diagnosis was confirmed by the characteristic histopathological abnormalities in skin biopsies and genetic testing results. Results: Five patients, 2 males and 3 females (mean age 16 years, range 12-20 years) were included in our study. The visual acuity was 20/20 in all subjects. Fundus evaluation revealed peau d\'orange in all patients: multiple, yellowish/white round lesions, scattered from the posterior pole to the mid-peripheral retina of each eye. Ultra-wide field imaging allows us to capture and describe the entire area of coquille d\'oeuf/peau d\'orange in a single picture, facilitating their identification and discrimination. Angiod streaks were visible in both eyes of four patients. In one patient optic disc drusen were detected in both eyes. All patients presented comet lesions. Conclusions: PXE-related retinopathy findings: peau d\'orange/coquille d\'oeuf, angioid streaks, comet lesions and drusen of the optic disc were present early in PXE patients. The early detection of coquille d\'oeuf/peau d\'orange revealed a preferable area into midperiphery where Bruch\'s membrane will be more likely to be affected.

Choroidal neovascularization (CNV) in adults is most commonly associated with neovascular age-related macular degeneration (AMD) and pathologic myopia. Though less common, CNV can also develop from other conditions such as uveitis, central serous chorioretinopathy, angioid streaks, intraocular tumors, hereditary chorioretinal dystrophies, or can be idiopathic in origin. If left untreated, CNV may cause visual loss because of exudation of intraretinal or subretinal fluid, retinal or subretinal hemorrhage, or fibrosis involving the macula. It is well known that one of the main drivers of angiogenesis in CNV development is vascular endothelial growth factor (VEGF) and therefore inhibitors of VEGF might be an effective treatment for CNV.
The goal of this review is to provide an overview and summary in the use of pharmacotherapy especially anti-VEGF therapy, in the treatment of CNV due to uncommon causes.
Results from uncontrolled case series and controlled clinical trials have reported good efficacy and safety in using anti-VEGF agents including bevacizumab, ranibizumab, aflibercept and ziv-aflibercept in the treatment of CNV due to uncommon causes. Anti-VEGF has also been used in combination with verteporfin PDT and anti-inflammatory agents for treating CNV of various causes.
Pharmacotherapy with anti-VEGF agents is an effective treatment option for CNV due to uncommon etiologies.

Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. The first clinical sign of PXE is almost always small yellow papules on the nape and sides of the neck and in flexural areas. The papules coalesce, and the skin becomes loose and wrinkled. The mid-dermal elastic fibers are short, fragmented, clumped and calcified. Dystrophic calcification of Bruch\'s membrane, revealed by angioid streaks, may trigger choroidal neovascularization and, ultimately, loss of central vision and blindness in late-stage disease. Lesions in small and medium-sized artery walls may result in intermittent claudication and peripheral artery disease. Cardiac complications (myocardial infarction, angina pectoris) are thought to be relatively rare but merit thorough investigation. Ischemic strokes have been reported. PXE is a metabolic disease in which circulating levels of an anti-mineralization factor are low. There is good evidence to suggest that the factor is inorganic pyrophosphate (PPi), and that the circulating low levels of PPi and decreased PPi/Pi ratio result from the lack of ATP release by hepatocytes harboring the mutant ABCC6 protein. However, the substrate(s) bound, transported or modulated by the ABCC6 protein remain unknown. More than 300 sequence variants of the ABCC6 gene have been identified. There is no cure for PXE; the main symptomatic treatments are vascular endothelial growth factor inhibitor therapy (for ophthalmic manifestations), lifestyle, lipid-lowering and dietary measures (for reducing vascular risk factors), and vascular surgery (for severe cardiovascular manifestations). Future treatment options may include gene therapy/editing and pharmacologic chaperone therapy.

Pseudoxanthoma elasticum (PXE) is a hereditary disease, causing calcification and degeneration of elastic fibers, which affects the skin, eye, cardiovascular systems and gastrointestinal tract. PXE is caused by mutations in the ABCC6 gene. Neither detailed nor large-scale analyses have been accomplished in Japanese patients with PXE. We, therefore, investigated clinical symptoms and ABCC6 gene mutations in 76 Japanese patients. Japanese PXE patients (n = 76) had a significantly lower incidence of vascular lesions than 505 PXE patients in the Leiden Open Variation Database (LOVD) (38.7% vs 65.1%, respectively; P = 1.34E-06); however, the incidences of the skin, eye, cardiac and gastrointestinal lesion symptoms were not significantly different. Symptom severity scores for skin, eye and vascular lesions, calculated using the Phenodex™ system, were significantly lower in Japanese PXE patients than in LOVD PXE patients. Genetic analysis revealed three nonsense, four frame-shift, one exon deletion and 13 missense mutations in ABCC6 in 73 patients; however, we were unable to detect pathogenic mutations in three patients. Frequent mutations differed between Japanese and LOVD PXE patients. In Japanese PXE patients, the top five mutations accounted for more than 60% of all pathogenic changes, suggesting the presence of founder effects. Consistent with previous reports, no obvious correlations between genotypes and phenotypes were identified in this study. In conclusion, we consider that the milder clinical phenotypes, observed even in older Japanese PXE patients, could be attributed to environmental factors such as dietary habits and lifestyle, as well as genetic background.

OBJECTIVE: We report an unusual case of bilateral vertical lacquer crack with no history of ocular trauma and with progressive marked enlargement and consequent visual loss.
METHODS: Three-year follow-up was completed using best-corrected visual acuity, serial fundus photographs, intravenous fluorescein angiography, and optical coherence tomography.
RESULTS: We report the occurrence of lacquer crack in a 43-year-old woman with no history of trauma except for laser in situ keratomileusis surgery for mild myopia (as reported by the patient) in the past 5 years and habitual ocular rubbing. Lacquer crack started in the right eye and became evident 1 year later in the left eye. Serial photography after repeated intravitreal injections of ranibizumab for subfoveal choroidal new vessel showed the lacquer crack widened gradually in both eyes. Axial length measurement revealed the presence of high myopia. Best-corrected visual acuity dropped to 20/200 bilaterally.
CONCLUSIONS: We hypothesize that a thin Bruch\'s membrane in high myopia is prone for small rupture initially either spontaneously or following laser in situ keratomileusis and subsequent widening of the rupture by oculopression and intravitreal injections from rise in intraocular pressure.