FIELD: biotechnology.
SUBSTANCE: molecular genetic study of nuclear DNA extracted from the blood is carried out. A mutation c.2850delT in exon 28 of gene ORA1 is identified in combination with the clinical presentation characterised by a slowly progressive decline in visual acuity, dyschromatopsia, center or center-cecal scotoma, which allows diagnosing autosomal-dominant ON.
EFFECT: ability of differential diagnostics of diseases of the optic nerve with the further prognosis of course of optic neuropathy and prognosis for the offspring of the proband.
1 tbl, 1 ex
Title | Year | Author | Number |
---|---|---|---|
DIAGNOSTIC TECHNIQUE FOR HEREDITARY OPTIC NEUROPATHY | 2014 |
|
RU2566271C9 |
DIAGNOSTIC TECHNIQUE FOR LEBER HEREDITARY OPTIC ATROPHY | 2013 |
|
RU2513596C1 |
METHOD FOR LEBER HEREDITARY OPTIC ATROPHY DIAGNOSIS | 2016 |
|
RU2617803C1 |
METHOD FOR DIFFERENTIAL DIAGNOSIS OF HEREDITARY OPTIC NEUROPATHY AND OPTIC NEURITIS | 2022 |
|
RU2786811C1 |
METHOD FOR PREDICTING OPTIC NERVE PARTIAL ATROPHY WITH STARGARDT DISEASE | 2017 |
|
RU2644693C1 |
METHOD FOR PREDICTING AN INCREASE IN VISUAL ACUITY IN HEREDITARY OPTIC NEUROPATHIES | 2022 |
|
RU2785859C1 |
METHOD FOR DETECTING p.Q368X MYOCILIN (MYOC) GENE MUTATION CAUSING PRIMARY OPEN-ANGLE GLAUCOMA | 2014 |
|
RU2582956C2 |
METHOD FOR DETERMINING STAGES OF PIGMENT AND PIGMENTLESS PIGMENT RETINITIS | 2018 |
|
RU2707368C1 |
METHOD OF DNA-DIAGNOSTICS OF AUTOSOMAL RECESSIVE DEAFNESS-103 | 2019 |
|
RU2727684C1 |
METHOD OF CORRECTION OF OXIDATIVE STRESS IN LEBER'S HEREDITARY OPTIC NEUROPATHY | 2019 |
|
RU2704013C1 |
Authors
Dates
2013-08-27—Published
2011-12-29—Filed