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Scientists find a new disease that causes night blindness. Could be rare, they say
The findings were published in JAMA Ophthalmology by an international team of researchers in the UK, Switzerland, Germany, and the US.
New Delhi: Scientists thought they understood the EFEMP1 gene which causes blindness, but they have found that a different mutation of the same gene leads to a new type of vision loss.
The findings were published in JAMA Ophthalmology on 10 September by an international team of researchers in the UK, Switzerland, Germany, and the US.
“The different disease expression in this family was thought to be similar to a condition caused by C1QTNF5 gene variants. However, none of the variants associated with that disease were found. Our collaborators then discovered a new variant in the EFEMP1 gene that normally causes a different disease where the macula, which is tied to central vision, is affected first,” Artur V Cideciyan, researcher and co-director of the Center for Hereditary Retinal Degenerations in Philadelphia, said in a statement.
