First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report

• প্রধান লেখক: Nicole Weisschuh (লেখক), Pascale Mazzola (লেখক), Tilman Heinrich (লেখক), Tobias Haack (লেখক), Bernd Wissinger (লেখক), Felix Tonagel (লেখক), Carina Kelbsch (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2020-11-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Abstract Background Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that form the optic nerve. Approximately 45-90% of affected individuals with...