Genzyme has announced the establishment of a research collaboration with the University of Florida (UF) and the University of Pennsylvania to develop gene therapy for the treatment for Leber congenital amaurosis type 1 (LCA-1), which is usually diagnosed in children who are less than a year old, and patients remain severely visually impaired for the rest of their lives. This disease, which is the most common cause of childhood
blindness, is a group of degenerative diseases of the retina caused by
genetic mutations in one of 19 genes currently associated with the
disorder. These genes encode proteins that play a variety of roles in
the development and function of the retina, and a mutation in any one of
them can cause visual impairment.
Retina India is a not-for-profit organization, registered with the Charity Commissioner, Mumbai, India, established for empowering people with retinal disorders, and bringing them and their families on a common platform with physicians, researchers, counselors, low vision and mobility experts and other specialists.
Thursday, September 25, 2014
New genetic mutations in Bardet Biedl Syndrome identified
UK researchers have identified genetic mutations responsible for Bardet-Biedl Syndrome (BBS), a rare condition that causes blindness, opening the door for personalized treatment and tailored gene therapies.
What is Bardet-Biedl syndrome?
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
What is Bardet-Biedl syndrome?
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Tuesday, September 23, 2014
Is a whole eye transplant possible?
When we talk about an eye transplant, we usually refer to a cornea transplant, in the present day scenario. No one so far has been able to remove a complete eye from a donor, and transplant it into a recipient and make the eye function. But it looks like this is about to change...
Friday, September 19, 2014
EYLEA (aflibercept) injection receives FDA breakthrough therapy designation for diabetic retinopathy in patients with diabetic macular edema
Regeneron Pharmaceuticals, Inc. has announced that the U.S. Food and Drug Administration (FDA) has granted Eylea® (aflibercept) injection a breakthrough therapy designation for the treatment of diabetic retinopathy in patients with diabetic macular edema (DME). The designation is based on positive results in two Phase 3 trials (VIVID-DME and VISTA-DME), in which Eylea demonstrated a statistically significant improvement
in a pre-specified measure of diabetic retinopathy in patients with DME after two years of treatment.
Increased risk of acute angle closure observed in patients with retinitis pigmentosa
Clinician scientists from Taiwan, in a large observational study of over 380 patients over a 15-year period, have observed increased risk of acute angle closure in patients with retinitis pigmentosa (RP). In addition, they also noticed that angle closure attack occurred earlier in life, with the risk higher in males, in patients with RP, compared to the general population where such an attack is more commonly seen in elderly females.
The association between RP and glaucoma was first proposed in 1862. Since then, it has been considered a difficult diagnosis to make in patients with RP due to coexistent changes such as retinal nerve fiber layer defect and visual field defect in RP, which are also seen in patients with glaucoma.
As is known, RP is a major cause of blindness in adults. Intraocular pressure (IOP) elevation may aggravate the visual impairment in RP patients with preexisting retinal and optic nerve dysfunction. Acute angle closure, the major risk factor for blindness among angle closure eyes, may cause particularly devastating damage to RP patients. Angle closure related IOP elevation is preventable by timely intervention to widen the drainage angle in susceptible eyes.
Advice: If you are a patient with RP, It is a good idea to get a check done by your retina specialist if you ever feel your vision has reduced suddenly from the previous state, or you have significant pain in or around the eye/s.
The association between RP and glaucoma was first proposed in 1862. Since then, it has been considered a difficult diagnosis to make in patients with RP due to coexistent changes such as retinal nerve fiber layer defect and visual field defect in RP, which are also seen in patients with glaucoma.
As is known, RP is a major cause of blindness in adults. Intraocular pressure (IOP) elevation may aggravate the visual impairment in RP patients with preexisting retinal and optic nerve dysfunction. Acute angle closure, the major risk factor for blindness among angle closure eyes, may cause particularly devastating damage to RP patients. Angle closure related IOP elevation is preventable by timely intervention to widen the drainage angle in susceptible eyes.
Advice: If you are a patient with RP, It is a good idea to get a check done by your retina specialist if you ever feel your vision has reduced suddenly from the previous state, or you have significant pain in or around the eye/s.
Wednesday, September 17, 2014
Japanese woman is first recipient of next-generation iPS stem cells for macular degeneration
A Japanese woman in her 70s has become the first person in the world to receive retinal cells derived from induced pluripotent stem cells (iPS). In a two-hour procedure on September 12, 2014, a team of three eye specialists lead by Dr Yasuo Kurimoto of the Kobe City Medical Center General Hospital, Japan, implanted a 1.3 by 3.0 millimetre sheet made of retinal pigment epithelium (RPE) cells into one eye of this patient, who was diagnosed with age-related macular degeneration (AMD).
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