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Genetic and clinical research has revealed a new form of macular dystrophy (A disease that causes central vision loss)

Researchers from the National Eye Institute (NEI) have identified a new disease that affects the macula, a small part of the light-sensing retina needed for sharp, central vision. Scientists report their findings on the novel macular dystrophy, which is yet to be named, in JAMA Ophthalmology. NEI is part of the National Institutes of Health.

Macular dystrophies are disorders that usually cause central visual loss because of mutations in several genes, including ABCA4, BEST1, PRPH2, and TIMP3.

For example, patients with Sorsby Fundus Dystrophy, a genetic eye disease specifically linked to TIMP3 variants, usually develop symptoms in adulthood. They often have sudden changes in visual acuity due to choroidal neovascularization- new, abnormal blood vessels that grow under the retina, leaking fluid and affecting vision.

TIMP3 is a protein that helps regulate retinal blood flow and is secreted from the retinal pigment epithelium (RPE), a layer of tissue that nourishes and supports the retina’s light-sensing photoreceptors. All TIMP3 gene mutations reported are in the mature protein after it has been “cut” from RPE cells in a process called cleavage.

“We found it surprising that two patients had TIMP3 variants not in the mature protein, but in the short signal sequence the gene uses to ‘cut’ the protein from the cells. We showed these variants prevent cleavage, causing the protein to be stuck in the cell, likely leading to retinal pigment epithelium toxicity,” said Bin Guan, Ph.D., lead author.

The research team followed these findings with clinical evaluations and genetic testing of family members to verify that the two new TIMP3 variants are connected to this atypical maculopathy.

“Affected individuals had scotomas, or blind spots, and changes in their maculas indicative of disease, but, for now, they have preserved central vision and no choroidal neovascularization, unlike typical Sorsby Fundus Dystrophy,” said Cathy Cukras, M.D., Ph.D., a Lasker tenure-track investigator and medical retina specialist who clinically evaluated the patients.

NEI’s Ophthalmic Genomics Laboratory gathers and manages specimens and diagnostic data from patients who have been recruited into multiple studies within the NEI clinical program to facilitate research of rare eye diseases, including Sorsby Fundus Dystrophy.

“Discovering novel disease mechanisms, even in known genes like TIMP3, may help patients that have been looking for the correct diagnosis, and will hopefully lead to new therapies for them,” said Rob Hufnagel, M.D., Ph.D., senior author and director of the Ophthalmic Genomics Laboratory at NEI.

The study was funded by the NEI Intramural Research Program.


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We have all experienced headaches. Most adults get a headache every now and then, but how do you know if your headache is serious? The term "ocular migraine" can be confusing. It generally means a headache that's accompanied by changes in vision. The term is often used interchangeably to refer to two different conditions: migraine with aura.


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Reduced blood flow and impaired neurovascular coupling are well-known features of glaucoma, the main cause of non-curable blindness, affecting 80 million people worldwide in 2020. The mechanisms behind these abnormalities are now known, thanks to new research by a team led by Adriana Di Polo, professor of neuroscience and ophthalmology at Université de Montréal. The findings by Luis Alarcon-Martinez and Yukihiro Shiga, both post-doctoral fellows in Di Polo’s laboratory and co-authors of the study, reveal that nanotubes connecting pericytes are damaged in glaucoma leading to neurovascular failures.


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Heterochromia comes from the Greek word "heteros" which mean different and "chroma" which means color. It is a condition where a person has two distinct eye colors. One can have this condition from birth or develop it over time. The colored part of the eye (Iris) consists of one of the colors, such as brown, green, black and blue. But some people have unique colors in one eye, and some have different eye colors because of heterochromia.


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If you can count, it's thanks to your pupils. The holes in the center of your eyes can detect quantity, new research finds. The mechanisms we use to sense quantity are located in our pupils. This is the result of a study conducted by the School of Psychology of the University of Sydney, in collaboration with the Universities of Pisa and Florence (Italy), just published in Nature Communications.


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Phil Zeitler, MD, PhD, has been treating kids with type 2 diabetes for more than 20 years. He and a team of researchers published a paper in the TODAY2 Study in the New England Journal of Medicine on the long-term complications of type 2 diabetes. (TODAY stands for Treatment Options for type 2 Diabetes in Adolescents and Youth). The first phase of the study took place from 2004 -- 2011; phase two from 2011 -- 2020. Both studies involved more than 550 participants from across the country.



My Optometrist recommended anti-fatigue lenses. Are they necessary? Anti-fatigue lenses are particularly helpful for close-up work. If you, like so many today, rely on your distance-only single-vision lenses, to see your screen clearly, anti-fatigue lenses may be the ideal solution for you.


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