A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
Base Sequence ; Developmental Disabilities ; diagnosis ; genetics ; Fingers ; abnormalities ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Microcephaly ; diagnosis ; genetics ; Muscle Hypotonia ; diagnosis ; genetics ; Mutation ; Myopia ; diagnosis ; genetics ; Neutropenia ; complications ; genetics ; psychology ; Obesity ; diagnosis ; genetics ; Psychomotor Disorders ; diagnosis ; etiology ; genetics ; Retinal Degeneration ; diagnosis ; genetics ; Vesicular Transport Proteins ; genetics

PURPOSE: Intravitreal anti-vascular endothelial growth factor (anti-VEGF) is the first choice of treatment for age-related macular degeneration. However, quite a few eyes treated using conventional dose anti-VEGF (CDAV) have persistent pigment epithelial detachment (PED) on optical coherence tomography. This study investigated the efficacy and safety of high dose anti-VEGF (HDAV) for refractory PED. METHODS: In this retrospective study, 31 eyes of neovascular age-related macular degeneration patients with persistent PED findings despite six or more intravitreal injections of CDAV (bevacizumab 1.25 mg or ranibizumab 2.5 mg) were analyzed. Changes in visual outcome, central foveal thickness, and PED height were compared before and after HDAV (bevacizumab 5.0 mg) for these refractory PED cases. RESULTS: The mean age of patients was 67.7 years. The number of CDAV injections was 12.1. The number of HDAV injections was 3.39. Best-corrected visual acuity in logarithm of the minimum angle of resolution before and after HDAV was 0.49 and 0.41 (p < 0.001), respectively. Central foveal thickness before and after HDAV was 330.06 and 311.10 µm (p = 0.125), respectively. PED height before and after HDAV was 230.28 and 204.07 µm (p = 0.014), respectively. There were no serious adverse reactions in all the eyes. CONCLUSIONS: Increasing the dose of bevacizumab in refractory PED may be a possible treatment option.
Aged ; Angiogenesis Inhibitors/administration & dosage ; Bevacizumab/*administration & dosage ; Dose-Response Relationship, Drug ; Female ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Intravitreal Injections ; Macular Degeneration/*complications/diagnosis/drug therapy ; Male ; Middle Aged ; Retinal Detachment/diagnosis/*drug therapy/etiology ; Retinal Pigment Epithelium/*diagnostic imaging/drug effects ; Retrospective Studies ; Tomography, Optical Coherence ; Vascular Endothelial Growth Factor A/antagonists & inhibitors

PURPOSE: To report the results of switching treatment to vascular endothelial growth factor (VEGF) Trap-Eye (aflibercept) in neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) refractory to anti-VEGF (ranibizumab and bevacizumab). METHODS: This is a retrospective study involving 32 eyes from 29 patients; 18 were cases of neovascular AMD and 14 were cases of PCV. The best-corrected visual acuity (BCVA) and central macular thickness (CMT) of spectral-domain optical coherence tomography were evaluated. RESULTS: BCVA and CMT improved from 0.58 to 0.55 (p = 0.005) and from 404 to 321 microm (p < 0.001), respectively, after switching to aflibercept. The 14 eyes that received 6 or more aflibercept injections remained stable at 0.81 to 0.81 and 321 to 327 microm (p = 1.0, 0.29), respectively, after 3 aflibercept injections. The 10 eyes that received 3 or more bevacizumab injections after 3 or more aflibercept injections worsened, from 0.44 to 0.47 and from 332 to 346 microm (p = 0.06, 0.05), respectively. The results showed similar improvement of BCVA and CMT in neovascular AMD and PCV. CONCLUSIONS: Aflibercept seems to be effective for improvement and maintenance of BCVA and CMT for neovascular AMD and PCV refractory to anti-VEGF. Switching from aflibercept back to bevacizumab treatment may not be a proper strategy.
Angiogenesis Inhibitors/administration & dosage ; Bevacizumab/administration & dosage ; Choroid/*blood supply ; Choroid Diseases/complications/diagnosis/*drug therapy ; Dose-Response Relationship, Drug ; Drug Therapy, Combination ; Female ; Follow-Up Studies ; Humans ; Intravitreal Injections ; Male ; Ranibizumab/administration & dosage ; Receptors, Vascular Endothelial Growth Factor/*administration & dosage ; Recombinant Fusion Proteins/*administration & dosage ; Retinal Neovascularization/complications/diagnosis/*drug therapy ; Retrospective Studies ; Tomography, Optical Coherence ; Treatment Outcome ; Vascular Endothelial Growth Factor A/*antagonists & inhibitors ; *Visual Acuity ; Wet Macular Degeneration/diagnosis/*drug therapy/etiology

PURPOSE: To evaluate the long-term outcomes of intravitreal anti-vascular endothelial growth factor (VEGF) monotherapy for patients diagnosed with submacular hemorrhage secondary to exudative age-related macular degeneration. METHODS: This retrospective, observational study included 49 patients (49 eyes) who initially presented with submacular hemorrhage associated with exudative age-related macular degeneration and who were followed-up for at least 24 months. Only eyes that were treated with intravitreal anti-VEGF monotherapy were included in the study. Best-corrected visual acuity (BCVA) measurements obtained at diagnosis, six months, and the final visit were compared. The associations of BCVA at the final visit with baseline BCVA, BCVA at six months, symptom duration, hemorrhage extent, and central foveal thickness were also analyzed. RESULTS: Over the course of follow-up (mean, 32.1 +/- 8.5 months), an average of 5.1 +/- 2.2 anti-VEGF injections were administered. Recurrent hemorrhage was noted in 13 eyes (26.5%). The mean logarithm of the minimal angle of resolution BCVA at diagnosis, six months, and the final visit were 1.40 +/- 0.52, 0.87 +/- 0.64, and 1.03 +/- 0.83, respectively. Both baseline BCVA (p = 0.012) and BCVA at six months (p < 0.001) were significantly associated with BCVA at the final visit. CONCLUSIONS: Improved visual acuity was maintained for more than two years with intravitreal anti-VEGF monotherapy. BCVA at six months is a useful clinical index to predict long-term visual prognosis.
Aged ; Aged, 80 and over ; Angiogenesis Inhibitors/administration & dosage ; Bevacizumab/*administration & dosage ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Fundus Oculi ; Humans ; Intravitreal Injections ; Male ; Middle Aged ; Ranibizumab/*administration & dosage ; Retina/*diagnostic imaging ; Retinal Hemorrhage/diagnosis/*drug therapy/etiology ; Retrospective Studies ; Time Factors ; Tomography, Optical Coherence ; Treatment Outcome ; Vascular Endothelial Growth Factor A/*antagonists & inhibitors ; Visual Acuity ; Wet Macular Degeneration/complications/diagnosis/*drug therapy

PURPOSE: To identify the unique pathologic findings of retinal angiomatous proliferation (RAP) in optical coherence tomography (OCT). METHODS: Retrospectively, 29 eyes of 25 patients with age-related macular degeneration and complicated RAP were analyzed. All 29 eyes had choroidal neovascularization (CNV) in the area of pigment epithelial detachment (PED) or adjacent to it, which was visible with fluorescein angiography or indocyanine green angiography. Cross-sectional images were obtained by OCT scanning through the CNV lesions. RESULTS: Six distinctive findings of OCT included drusen (100%), inner retinal cyst (80%), outer retinal cyst (68%), fibrovascular PED (84%), serous retinal detachment (40%), and PED (68%). CONCLUSIONS: Through analysis of OCT findings, we revealed six different types of lesions distinctive of RAP which may provide helpful diagnostic information for subsequent treatment and predicting the prognosis of RAP.
Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Humans ; Macular Degeneration/*complications/diagnosis ; Male ; Middle Aged ; Reproducibility of Results ; Retina/*pathology ; Retinal Neovascularization/*diagnosis/etiology ; Retrospective Studies ; Severity of Illness Index ; Tomography, Optical Coherence/*methods

A 46-year-old man presented with visual disturbances in both eyes. His best corrected visual acuity was 0.7 (both eyes). Ptosis and limitation of ocular movement in every direction were observed. Slit lamp examination showed a bilateral iridescent cataract. Fundus examination showed peripheral depigmentation of the retinal pigment epithelium and pigmentary clumping in both eyes that agreed with blocked fluorescence and widow defects on fluorescein angiography. The amplitude of b-wave was decreased on electroretinography. Fourteen months later, the patient's best corrected visual acuity decreased to 0.3 due to increased lens opacity. Phacoemulsification and intraocular lens implantation were performed on both eyes. At the patient's final visit, retinal findings were stable with a best corrected visual acuity of 0.7 in both eyes. In conclusion, the visual disturbance could have been caused by both cataracts and retinal degeneration, meaning the fundus should be examined carefully in patients with myotonic dystrophy.
Diagnosis, Differential ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Male ; Middle Aged ; Myotonic Dystrophy/*complications/diagnosis ; Pigment Epithelium of Eye/*pathology ; Retinal Degeneration/diagnosis/*etiology

Choroidal neovascular membranes are often poorly defined on fluorescein angiography because of fluorescein leakage or blockage of hyperfluorescence by overlying hemorrhage, lipid, turbid fluid, or pigment. Indocyanine green (ICG) is a highly protein-bound dye in the near infrared portion of the spectrum. Therefore, ICG remained in and around the neovascular membrane and enhanced the visualization of certain membranes poorly defined with fluorescein. ICG penetrated through the overlying turbid tissue, and improved the visualization of the underlying choroidal neovascular membrane. Using an infrared angiography system, the authors obtained 21 ICG-angiograms with suspected choroidal neovascularization, and compared them to fluorescein angiograms. In 5 of the 21 eyes, occult choroidal neovascularization was well delineated on the ICG angiograms. In 2 eyes, we were able to detect a well-defined choroidal neovascular membrane underlying a subretinal hemorrhage. In 12 of the 21 eyes with choroidal neovascular membrane, we performed argon-green laser photocoagulation applying the overlay technique of the ICG angiogram to red-free photo or the early fluorescein angiogram, and evaluated the effect of full coverage laser treatment.
Choroid/*blood supply ; Female ; Fluorescein Angiography/*methods ; Fundus Oculi ; Humans ; Indocyanine Green/*diagnostic use ; *Laser Coagulation ; Macular Degeneration/*complications ; Male ; Middle Aged ; Neovascularization, Pathologic/diagnosis/etiology/*surgery ; Retinal Hemorrhage/complications ; Signal Processing, Computer-Assisted ; Visual Acuity