In this group of patients, the acute focal RPE leaks seen with FA corresponded precisely to an area of hypo-autofluorescence imaged with FAF. This observation supports the concept that a mechanical defect or absence of the RPE accounts for the leakage from the inner choroid to the sub-neurosensory space in CSC. FAF is also a useful noninvasive diagnostic adjunct to identify the focal RPE leak in patients with acute CSC.
subfoveal fibrosis may develop or progress in neovascular age-related macular degeneration despite the absence of significant subfoveal hemorrhage and treatment with anti-VEGF. Development of anti-fibrotic therapeutics may be beneficial in reducing the incidence of subretinal fibrosis.
Massive SRH related to age-related macular degeneration has a grave prognosis. Risk factors may include anticoagulation and coagulopathy. Limitations of the study include its retrospective nature, small sample size, imprecision in acuity measurements below 20/400, and lack of a control group. In this series, surgical intervention was associated with a modest improvement in median visual acuity up to 1 year postoperatively.
Juvenile myoclonic epilepsy is a common type of idiopathic generalized epilepsy characterized by myoclonic, generalized tonic-clonic, and in 30% of patients, absence seizures. We studied a three-generation pedigree of 33 members, 10 of whom were clinically affected with juvenile myoclonic epilepsy or presented with subclinical electroencephalographic (EEG) 3.5- to 6.0-Hz diffuse polyspike-wave or spike-wave complexes. Juvenile myoclonic epilepsy and the EEG trait segregated as an autosomal dominant trait with 70% penetrance. Linkage analysis using this model showed significant linkage to four microsatellite markers centromeric to human leukocyte antigen (HLA) in chromosome 6p. Maximum lod scores of 3.43 at theta(m=f)=0.00 for D6S272, D6S466, D6S257, and D6S402 were obtained. Recombinant events in 2 affected members defined the gene region to a 43-cM interval flanked by D6S258 (HLA region) and D6S313 (centromere). Our results in this large family provide evidence that a gene responsible for juvenile myoclonic epilepsy and the subclinical, 3.5- to 6.0-Hz, polyspike-wave or spike-wave EEG pattern is located in chromosome 6p.
PURPOSE:To develop a systematic approach for the molecular diagnosis of retinitis pigmentosa (RP) and to report new genotype-phenotype correlations for phosphodiesterase 6 (PDE6) based RP mutations.
DESIGN:Clinical and molecular studies on a retrospective case series.
METHODS:We screened 40 unrelated RP patients with an autosomal recessive RP microarray. Individuals with RP caused by PDE6 deficiency underwent genetic segregation and phenotype analysis.
RESULTS:A disease-associated allele was identified in 32% of patients. Two probands (5%) had PDE6 mutations. The first proband was a compound heterozygote for known R102C and N216S alleles in PDE6A (MIM#180071). Pedigree analysis determined that the N216S variant was benign and direct sequencing discovered a novel, S303C allele. The second proband had a homozygous D600N mutation in the PDE6B gene (MIM#180072). Visual acuities of PDE6 deficient patients ranged from 20/40 to 20/200. Clinical studies showed unusual vitreomacular traction, cystoid macular edema, macular atrophy, and ring hyperfluorescence in PDE6 deficient patients. Such
Edited by Lee M. Jampol
Repopulation of the Retinal Pigment EpitheliumAfter Pigment Epithelial Rip center of the fovea. In short, the OCT image supports the concept of repopulation of hypopigmented RPE and reconstitution of the posterior blood-retinal barrier after an RPE rip.
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