Ocular Kaposi Sarcoma Associated With Systemic Disease and Complete Resolution After Medical Therapy.

This case report describes a man with untreated HIV infection who presented with Kaposi sarcoma caruncular lesions that resolved completely with medical treatment.

Compartmental Differences in Macular Retinal Ganglion Cell Function.

Purpose: The purpose of this study was to investigate local differences of macular retinal ganglion cell (RGC) function by means of the steady-state pattern electroretinogram (SS-PERG). Methods: SS-PERGs were recorded in healthy subjects (n = 43) in response to gratings (1.6 c/deg, 15.63 reversals/s, and 98% contrast) presented on an LED display (800 cd/m2, 12.5 degrees eccentricity at 30 cm viewing distance) partitioned in triangular sectors (inferior [I]; nasal [N]; superior [S]; and temporal [T]) or concentric regions (central [C] and annulus [A]). For each partition, response amplitude (nV), amplitude adaptation (% change over recording time), phase/latency (deg/ms), and oscillatory potentials (OPs) amplitude (root mean square [RMS] nV) were measured. Data were analyzed with Generalized Estimating Equation (GEE) statistics. Results: Amplitude differed (P < 0.001) between sectors (I: 254 nV; N: 328 nV; S: 275 nV; T: 264 nV; and N>T, I) as well as concentrically (C: 684 nV; A: 323 nV; and C>A). Latency did not differ between sectors (range = 53-54 ms, P = 0.45) or concentrically (range = 51-51 ms, P = 0.7). Adaptation did not differ (P = 0.66) concentrically (C: -19% and A: -22%) but differed (P = 0.004) between sectors (I: +25% and S: -29%). The OP amplitude did not differ (P = 0.5) between sectors (range = 63-73 nV) as well as concentrically (range = 82-90 nV, P = 0.3). Conclusions: Amplitude profiles paralleled RGC densities from histological studies. Adaptation profile suggested greater autoregulatory challenge in the inferior retina. Latency profile may reflect axonal conduction time to the optic nerve head assuming a direct relationship between axon length and its size/velocity. Location-independent OPs may reflect preganglionic activity. Translational Relevance: Normal macular RGC function displays local differences that may be related to local vulnerability in optic nerve disorders.

Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report.

Purpose: This report discusses a patient with Leber congenital amaurosis who presented with severe bilateral Coats-like reaction and 3 novel sequence variants in 2 different genes. Methods: The patient underwent complete ophthalmic and retinal evaluations including fluorescein angiography and optical coherence tomography as well as genetic studies. She was treated with intravitreal injection of intravitreal bevacizumab and laser photocoagulation. Results: Genetic analysis of the patient identified 2 novel sequence variants in the CEP290 (centrosomal protein 290) gene and another novel sequence variant in the RPGRIP1 (RPGR interacting protein 1) gene. Conclusions: The clinical presentation of Coats-like reaction in Leber congenital amaurosis can be associated with sequence variants in certain genes. The presence of multiple gene sequence variants in this patient may have contributed to the severity of disease.

Impaired glucose metabolism and exercise capacity with muscle-specific glycogen synthase 1 (gys1) deletion in adult mice.

OBJECTIVE: Muscle glucose storage and muscle glycogen synthase (gys1) defects have been associated with insulin resistance. As there are multiple mechanisms for insulin resistance, the specific role of glucose storage defects is not clear. The aim of this study was to examine the effects of muscle-specific gys1 deletion on glucose metabolism and exercise capacity. METHODS: Tamoxifen inducible and muscle specific gys-1 KO mice were generated using the Cre/loxP system. Mice were subjected to glucose tolerance tests, euglycemic/hyperinsulinemic clamps and exercise tests. RESULTS: gys1-KO mice showed ≥85% reduction in muscle gys1 mRNA and protein concentrations, 70% reduction in muscle glycogen levels, postprandial hyperglycaemia and hyperinsulinaemia and impaired glucose tolerance. Under insulin-stimulated conditions, gys1-KO mice displayed reduced glucose turnover and muscle glucose uptake, indicative of peripheral insulin resistance, as well as increased plasma and muscle lactate levels and reductions in muscle hexokinase II levels. gys1-KO mice also exhibited markedly reduced exercise and endurance capacity. CONCLUSIONS: Thus, muscle-specific gys1 deletion in adult mice results in glucose intolerance due to insulin resistance and reduced muscle glucose uptake as well as impaired exercise and endurance capacity. IN BRIEF: This study demonstrates why the body prioritises muscle glycogen storage over liver glycogen storage despite the critical role of the liver in supplying glucose to the brain in the fasting state and shows that glycogen deficiency results in impaired glucose metabolism and reduced exercise capacity.