Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 microm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia.
Achondroplasia/*complications/diagnosis ; Child ; Choroid/*abnormalities ; Choroid Diseases/*complications/diagnosis ; Coloboma/*complications/diagnosis ; Female ; Humans ; Ophthalmoscopes ; Tomography, Optical Coherence ; Visual Acuity

PURPOSE: To investigate the clinical characteristics of polypoidal choroidal vasculopathy (PCV) associated with chronic central serous chorioretinopathy (CSC). METHODS: We retrospectively reviewed the medical records of 246 PCV patients (283 eyes) between July 2004 and August 2009 and investigated the clinical characteristics of the PCV patients who had specific fundus findings of chronic CSC. RESULTS: Among PCV patients, 13 eyes (4.6%) of 13 PCV patients (5.3%) had fundus findings of chronic CSC. All of the PCV lesions had a solitary polyp located outside the atrophic retina, predominantly in the macular area (84.6%), most showed an exudative pattern (69.2%) and there were a few that showed a hemorrhagic pattern (30.8%). All of the lesions were smaller than 1 disc diameter. Most of the PCV lesions (76.9%) were cured with less than two treatments in a short period of 6.4 +/- 1.9 months; however, visual acuity deteriorated (61.5%) or was not changed (30.8%) in most of the cases. CONCLUSIONS: The PCV associated with chronic CSC had several clinical features such as a small exudative retinal lesion with a solitary polyp and frequent involvement of the macular area. Even though there was poor visual outcome due to the atrophic change, all of the PCV lesions were easily resolved in a short period with a simple treatment course and no recurrence.
Aged ; Choroid/*blood supply ; Choroid Diseases/*complications/diagnosis/therapy ; Female ; Fluorescein Angiography ; Humans ; Indocyanine Green/diagnostic use ; Male ; Middle Aged ; Retinal Detachment/complications/diagnosis/therapy ; Retinal Diseases/*complications/diagnosis/therapy ; Retrospective Studies ; Risk Factors ; Visual Acuity

We report two cases of choroidal neurofibromatosis, detected with the aid of indocyanine green angiography (ICGA) in patients with neurofibromatosis (NF)-1, otherwise having obscure findings based on ophthalmoscopy and fluoresceine angiography (FA). In case 1, the ophthalmoscopic exam showed diffuse bright or yellowish patched areas with irregular and blunt borders at the posterior pole. The FA showed multiple hyperfluorescent areas at the posterior pole in the early phase, which then showed more hyperfluorescence without leakage or extent in the late phase. The ICGA showed diffuse hypofluorescent areas in both the early and late phases, and the deep choroidal vessels were also visible. In case 2, the fundus showed no abnormal findings, and the FA showed weakly hypofluorescent areas with indefinite borders in both eyes. With the ICGA, these areas were more hypofluorescent and had clear borders. Choroidal involvement in NF-1 seems to occur more than expected. In selected cases, ICGA is a useful tool to be utilized when an ocular examination is conducted in a patient that has no definite findings based on the ophthalmoscope, B-scan, or FA tests.
Child ; Choroid/*pathology ; Choroid Diseases/*diagnosis/etiology ; Coloring Agents/diagnostic use ; Diagnosis, Differential ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Fundus Oculi ; Humans ; Indocyanine Green/*diagnostic use ; Male ; Middle Aged ; Neurofibromatosis 1/*complications/diagnosis

PURPOSE: To report a case of bilateral bullous exudative retinal detachment in central serous chorioretinopathy (CSC) which was attached by vitrectomy and internal drainage of the subretinal fluid. METHODS: A 47-year-old man affected by bilateral atypical CSC with a bullous retinal detachment with subretinal exudate. A fluorescein angiogram (FAG) showed multiple points of leakage and staining of subretinal fibrosis. A tentative diagnosis of Vogt-Koyanagi-Harada (VKH) syndrome was made and the patient was treated with systemic corticosteroids and immunosuppressive agents. However, the subretinal fluid was not absorbed. He was then treated with vitrectomy and internal drainage of subretinal fluid. RESULTS: The retina was attached successfully in both eyes. Visual acuity improved to 20/50 in his left eye but did not improve in the right eye due to subretinal fibrotic scarring and atropic changes on the macula. CONCLUSIONS: Our case suggests that the surgical management of bullous exudative retinal detachment is safe and necessary.
*Vitrectomy ; Retinal Detachment/etiology/pathology/*surgery ; Middle Aged ; Male ; Humans ; Fundus Oculi ; Follow-Up Studies ; Fluorescein Angiography ; Exudates and Transudates ; Drainage/*methods ; Diagnosis, Differential ; Choroid Diseases/*complications/diagnosis

PURPOSE: To report a case of uveal effusion syndrome associated with hypotony and a case of uveal effusion syndrome in nanophthalmos. METHODS: The first case was a 25-year-old man who presented with decreased visual acuity in the left eye and hypotony. Fundus examination revealed choroidal effusion and retinal detachment with a thickened eyeball. Partial thickness sclerotomy and sclerectomy were performed. The second case was a 13-year-old boy who had uveal effusion syndrome with a nanophthalmic eye. RESULTS: In the patient with hypotony, intraocular pressure was well maintained following partial thickness sclerotomy and sclerectomy, and choroidal effusion and retinal detachment were reduced. The visual acuity of the nanophthalmic patient was well maintained during a 3-year follow-up period without treatment. CONCLUSIONS: appropriate treatment modalities should be considered depending on the ophthalmic condition of the individual patient.
Syndrome ; Sclera/surgery ; Retinal Detachment/diagnosis/*etiology ; Ophthalmologic Surgical Procedures/methods ; Microphthalmos/*complications/diagnosis ; Male ; Humans ; Follow-Up Studies ; Exudates and Transudates ; Diagnosis, Differential ; Choroid Diseases/*complications/diagnosis ; Adult ; Adolescent

We report a rare case of multicentric Castleman's disease that presented with ophthalmic involvement, along with a review of the literature. A 63-year-old male presented with decreased visual acuity in both eyes. Both eyes had serous elevations of the retinas with shifting subretinal fluid and annular choroidal detachment. No retinal breaks were found. Laboratory tests revealed pancytopenia, hypergammaglobulinemia, and an increased erythrocyte sedimentation rate. Chest and abdominal computed tomographies showed multiple lymphadenopathies in the mediastinum, abdomen, and in both inguinal areas. Histological examination of the inguinal lymph node biopsy was consistent with Castleman's disease. After combination chemotherapy, the serous elevations of both retinas and the annular choroidal detachments of both eyes disappeared. Ophthalmic involvement in Castleman's disease is very rare, and to the authors' knowledge, this is the first report of ophthalmic involvement of Castlemans's disease in Korea.
Aged ; Choroid Diseases/etiology ; Drug Therapy, Combination ; Exudates and Transudates/*metabolism ; Fluorescein Angiography ; Fundus Oculi ; Giant Lymph Node Hyperplasia/*complications/drug therapy ; Humans ; Hypergammaglobulinemia/complications ; Magnetic Resonance Imaging ; Male ; Syndrome ; Tomography, Optical Coherence ; Treatment Outcome ; Uveal Diseases/diagnosis/*etiology/*metabolism

We report a case of recurrent choroidal neovascularization (CNV) in an eye with chorioretinal coloboma. A 36-year-old woman presented complaining of decreased visual acuity (VA) in her left eye. Best corrected visual acuity (BCVA) was 20/200 and iris coloboma was observed. Funduscopy and fluorescein angiography (FA) showed CNV in the superior extrafoveal region with chorioretinal coloboma reaching just inferior to the optic disc. No other cause for CNV was observed except for the chorioretinal coloboma. BCVA improved to 20/30 after laser photocoagulation. She revisited our clinic for deteriorating VA (20/400) in the same eye 3 years after treatment. Funduscopy and FA demonstrated recurrent CNV with subfoveal hemorrhage. Photodynamic therapy (PDT) was followed by three consecutive intravitreal bevacizumab injections (IVB) for the subfoveally-located CNV. However, the CNV persisted with the appearance of a fresh subretinal hemorrhage. Additional PDT was combined with IVB on the same day 6 months after the initial PDT. The CNV regressed 3 months after treatment and has not recurred as of 8 months after the last treatment. The patient's BCVA improved to 20/60. This case suggests that PDT combined with IVB can be an alternative treatment for the management of recurrent CNV after laser photocoagulation in eyes with chorioretinal coloboma.
Adult ; Angiogenesis Inhibitors/administration & dosage ; Antibodies, Monoclonal/administration & dosage ; Choroid Diseases/*complications/drug therapy/surgery ; Choroidal Neovascularization/diagnosis/*etiology/physiopathology ; Coloboma/*complications/drug therapy/surgery ; Female ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Intravitreal Injections ; Laser Coagulation ; Photochemotherapy ; Recurrence ; Visual Acuity

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