Article
A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
BMC ophthalmology - 23 Mar 2023
Aziz Nobia, Ullah Mukhtar, Rashid Abdur, Hussain Zubair, Shah Khadim, Awan Azeem, Khan Muhammad, Ullah Inam, Rehman Atta Ur
Abstract excerpt
BACKGROUND: Retinitis pigmentosa (RP) is one of the most frequent hereditary retinal diseases that often starts with night blindness and eventually leads to legal blindness. Our study aimed to identify the underlying genetic cause of autosomal recessive retinitis pigmentosa (arRP) in a consanguineous Pakistani family. METHODS: Following a detailed ophthalmological examination of the patients by an...
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