Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. We report the cases of two Korean families with OSTL1 carrying likely pathogenic variants of COL2A1. All patients presented with membranous vitreous anomaly, peripheral retinal degeneration, and/or rhegmatogenous retinal detachment, but no systemic manifestations. By genetic analysis, two likely pathogenic non-exon 2 variants, c.2678dupC (p.Ala895Serfs*49) and c.3327+ 1G>C, were identified in COL2A1. Our results demonstrate that COL2A1 defects in OSTL1 are not confined to mutations in exon 2. Together with molecular data, ophthalmologists should consider genetic diagnosis of Stickler syndrome in patients with vitreous anomaly to prevent blindness from retinal detachment. To our knowledge, this is the first report of genetically confirmed OSTL1 in Korea.
Adult ; Arthritis/*genetics/pathology ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Collagen Type II/*genetics ; Connective Tissue Diseases/*genetics/pathology ; DNA Mutational Analysis ; Exons ; Female ; Hearing Loss, Sensorineural/*genetics/pathology ; Humans ; Male ; Middle Aged ; Republic of Korea ; Retinal Detachment/*genetics/pathology ; Visual Acuity

Hereditary vitreous degeneration muddy is rare in clinic. Here we report ten cases (thirteen eyes) of hereditary vitreous degeneration muddy from two families. All patients presented with vitreous opacity, and the textures appeared tough and tensile. Two cases had concurrent detachment of rhegmatogenous retina. HE staining showed red changeableness, and methyl violet staining appeared purple. All patients received vitrectomy with traditional Chinese medicine treatment, and got satisfactory efficacy.
Eye Diseases, Hereditary ; diagnosis ; pathology ; surgery ; therapy ; Female ; Humans ; Male ; Medicine, Chinese Traditional ; Retinal Detachment ; diagnosis ; surgery ; Vitrectomy ; Vitreous Body ; pathology ; surgery

PURPOSE: To compare clinical, angiographic, and optical coherence tomographic characteristics between eyes with acute Vogt-Koyanagi-Harada (VKH) disease and eyes with acute bilateral central serous chorioretinopathy (CSC), and to demonstrate distinguishing features between the two diseases in confusing cases. METHODS: The medical records of 35 patients with VKH disease and 25 patients with bilateral CSC were retrospectively reviewed. Characteristics according to slit-lamp biomicroscopy, ophthalmoscopy, fundus photography, fluorescein angiography, indocyanine green angiography, and spectral-domain optical coherence tomography were compared between the two diseases. RESULTS: Five of 35 patients (10 of 70 eyes, 14.3%) with VKH disease were initially misdiagnosed as CSC patients, and six of 25 patients (12 of 50 eyes, 24%) with bilateral CSC were initially misdiagnosed as patients with VKH disease. Pigment epithelial detachment in CSC and optic disc hyperemia in VKH disease show the highest positive predictive values of 100% for each disease. CONCLUSIONS: Optic disc hyperemia in VKH disease and pigment epithelial detachment in bilateral CSC are the most specific clinical manifestations of each disease at initial patient presentation.
Acute Disease ; Adult ; Aged ; Aged, 80 and over ; Central Serous Chorioretinopathy/*diagnostic imaging ; Female ; Fluorescein Angiography ; Humans ; Hyperemia/diagnosis ; Indocyanine Green/administration & dosage ; Male ; Middle Aged ; Multimodal Imaging ; Ophthalmoscopy ; Optic Disk/blood supply ; Photography ; Retinal Detachment/diagnosis ; Retinal Pigment Epithelium/pathology ; Retrospective Studies ; Slit Lamp Microscopy ; Tomography, Optical Coherence ; Uveomeningoencephalitic Syndrome/*diagnostic imaging ; Young Adult

No abstract available.
Angiogenesis Inhibitors/administration & dosage/adverse effects ; Bevacizumab/administration & dosage/*adverse effects ; Follow-Up Studies ; Hemangioma, Capillary/diagnosis/*drug therapy ; Humans ; Intravitreal Injections ; Male ; Photochemotherapy/*adverse effects ; Retina/*pathology ; Retinal Detachment/*chemically induced/diagnosis ; Retinal Neoplasms/diagnosis/*drug therapy ; Time Factors ; Young Adult

No abstract available.
Choroid/pathology ; Humans ; Male ; Middle Aged ; Ophthalmia, Sympathetic/*etiology/pathology ; Retina/pathology ; Retinal Detachment/surgery ; Vitrectomy/*adverse effects

No abstract available.
Choroid/pathology ; Humans ; Male ; Middle Aged ; Ophthalmia, Sympathetic/*etiology/pathology ; Retina/pathology ; Retinal Detachment/surgery ; Vitrectomy/*adverse effects

BACKGROUNDIt is very common for professional divers to have damage on the retinas. Severe retinal lesions can profoundly affect athletes' training efficacy and their daily lives. At present, it is not clear if there is effective preventive action. Thus, in our study, we continuously tracked the ocular changes in athletes and closely monitored the risk factors associated with retinal detachment. Also, we analyzed possible interventions, their associated factors, and efficacies for timely preventions to protect the retina from damage in professional divers.

METHODSBetween 2009 and 2012, a total of 39 professional divers enrolled in follow-up management. The conducted examinations included ocular examination, record screening on retinal lesion, monitoring best-corrected visual acuity, and checking intraocular pressure (IOP) and the scope of retinal lesion. The management included optimizing training methods, taking customized follow-up based on different retinal lesions, laser treatments for definite cases of retinal tear, retinal degeneration caused by retinal layer thinning or vitreous traction, and observing the changes in the scope of retinopathy.

RESULTSEvery year, the percentage of divers who have various degrees of retinal lesions is between 43.3% and 56.2%. During the 4 years, there were no statistically significant differences in divers' best-corrected visual acuity and retinal lesions. There were also no statistically significant differences between male and female athletes. However, there were statistically significant differences in IOP during these years. Moreover there were statistically significant differences in IOP and the scope of retinal lesions between platform divers and springboard divers.

CONCLUSIONSOur management of retinal lesions could be effective to prevent severe retinopathy in professional divers. At the same time, platform divers are more likely to have retinal lesions than springboard divers.

Adolescent ; Diving ; injuries ; Female ; Humans ; Male ; Retina ; pathology ; Retinal Detachment ; etiology ; Retinal Diseases ; therapy

No abstract available.
Angiogenesis Inhibitors/*therapeutic use ; Bevacizumab/*therapeutic use ; Choroid/*blood supply ; Ciliary Arteries/pathology ; Fluorescein Angiography ; Humans ; Intravitreal Injections ; Ischemia/*drug therapy/etiology/physiopathology ; Male ; Meningeal Neoplasms/surgery ; Meningioma/surgery ; Neurosurgical Procedures/*adverse effects ; Retinal Detachment/*drug therapy/etiology/physiopathology ; Subretinal Fluid ; Vascular Endothelial Growth Factor A/antagonists & inhibitors ; Visual Acuity/physiology ; Young Adult

PURPOSE: To investigate correlations between preoperative and postoperative foveal microstructures in patients with macula-off rhegmatogenous retinal detachment (RRD). METHODS: We reviewed the records of 31 eyes from 31 patients with macula-off RRD who had undergone successful re-attachment surgery. We analyzed data obtained from complete ophthalmologic examinations and optical coherence tomography (OCT) before and 9 to 12 months after surgery. All postoperative OCT measurements were taken with spectral-domain OCT, but a subset of preoperative OCT measurements were taken with time-domain OCT. RESULTS: The mean duration of macular detachment was 15.5 +/- 15.2 days, and mean preoperative best-corrected visual acuity (BCVA, logarithm of the minimum angle of resolution) was 1.03 +/- 0.68. Preoperative visual acuity was correlated with retinal detachment height (p < 0.001) and the existence of intraretinal separation (IRS) along with outer layer undulation (OLU) (p = 0.022), but not with macula-off duration. The final BCVA was significantly correlated with integrity of the junction between the photoreceptor inner and outer segments (IS/OS) combined with the continuity of external limiting membrane (ELM) (p = 0.025). The presence of IRS and OLU on a detached macula were highly correlated with the final postoperative integrity of the IS/OS junction and the ELM (p = 0.017). CONCLUSIONS: Eyes preoperatively exhibiting IRS and OLU showed a higher incidence of disruption to the photoreceptor IS/OS junction and the ELM at final follow-up. Such a close correlation between preoperative and postoperative structural changes may explain why ultimate visual recovery in such eyes is poor.
Adolescent ; Adult ; Female ; Fovea Centralis/*pathology/*surgery ; Humans ; Macula Lutea/pathology/surgery ; Male ; Middle Aged ; *Recovery of Function ; Retinal Detachment/*pathology/*surgery ; Retrospective Studies ; *Tomography, Optical Coherence ; Young Adult

INTRODUCTIONThis study describes the pathologic changes in the retina of a group of young Asian subjects with myopia worse than -10 diopters spherical equivalent (SE) refraction.

MATERIALS AND METHODSThe study population consists of 20 male subjects undergoing preemployment screening for public service for a 1-year period from 2009 to 2010. A detailed series of visual tests of function, fundus examination and grading, ocular biometry and posterior segment optical coherence tomography were performed for all eyes.

RESULTSA total of 21 eyes with mean SE of -10.88 diopters, [standard deviation (SD) , 1.28 diopters], and mean age of 21.8 years (SD, 1.3 years) were included. Out of 21 eyes, 17 (81.0%) had beta peripapillary atrophy, 10 (47.6%) had clinically detectable optic disc tilt, 1 (4.8%) had positive T-sign and 18 (85.7%) had retinal tessellation, 4 (19.0%) had posterior vitreous detachment and 14 (66.7%) had peripheral retina degeneration. The mean retinal nerve fibre layer (RNFL) thickness was 92.48 mm (SD, 9.99 mm).

CONCLUSIONNone of the 21 highly myopic eyes had features of myopic retinopathy but most of these young males had clinically visible myopia-associated abnormalities of the optic disc, vitreous and peripheral retina. Generally, these eyes had thinner RNFL. Further longitudinal studies are required to investigate if these eyes will eventually develop complications of pathological myopia.

Adolescent ; Adult ; Age of Onset ; Choroid Diseases ; diagnosis ; Fluorescein Angiography ; Humans ; Male ; Myopia ; classification ; pathology ; Nerve Fibers ; pathology ; Ophthalmoscopy ; Optic Atrophy ; diagnosis ; Optic Disk ; pathology ; Optic Nerve Diseases ; diagnosis ; Posterior Eye Segment ; pathology ; Retina ; pathology ; Retinal Degeneration ; diagnosis ; Retinal Diseases ; diagnosis ; Retinal Vessels ; pathology ; Singapore ; Tomography, Optical Coherence ; methods ; Vision Tests ; Visual Acuity ; Vitreous Detachment ; diagnosis ; Young Adult