Hereditary,metabolic and toxic optic neuropathies cause bilateral,central vision loss and therefore can result in severe impairment in visual function.Accurate,early diagnosis is critical,as nutritional and toxic opti...Hereditary,metabolic and toxic optic neuropathies cause bilateral,central vision loss and therefore can result in severe impairment in visual function.Accurate,early diagnosis is critical,as nutritional and toxic optic neuropathies may be reversible if identified early,and diagnosis of hereditary optic neuropathies can prevent unnecessary invasive workup,provide prognostic information,and allow for effective genetic counseling.Optical coherence tomography(OCT)is a valuable tool that aids in the diagnosis and prognostication of optic neuropathies as it allows for quantification of changes in the retinal ganglion cells(RGCs)and retinal nerve fiber layer(RNFL)over time.We review the characteristic clinical presentations of hereditary,metabolic and toxic optic neuropathies,with an emphasis on OCT findings.展开更多
Dominant optic atrophy(DOA)is an inherited optic neuropathy and more than 75%of DOA patients harbor pathogenic mutations in OPA1.We reported a 39-year-old female harboring c.2119G>T mutation of OPA1 and manifested ...Dominant optic atrophy(DOA)is an inherited optic neuropathy and more than 75%of DOA patients harbor pathogenic mutations in OPA1.We reported a 39-year-old female harboring c.2119G>T mutation of OPA1 and manifested progressive visual impairment after hydroxychloroquine(HCQ)therapy.The patient’s visual impairment remained stable for 10 years until she began to take HCQ 13 months ago.She complained about progressively decreased vision in both eyes.Bilateral pale temporal optic disc was similar with that of 11 years ago.Optical coherence tomography showed bilateral moderate retinal nerve fiber layer thinning other than the nasal quadrant and general thinning of the inner retina in the macular.Microcystic macular edema was noted in nasal macular in both eyes.Visual field testing showed paracentral scotoma and microperimetry showed decrease sensitivity in the macular in both eyes.After the patient stopped taking HCQ,her functional tests including visual acuity,field testing and microperimetry testing was stable compared with those of 2 years ago.However,progressive inner macular and RNFL thinning was shown by OCT.OPA1 c.2119 G>T found in this patient was a mutation that had been rarely reported in previous studies.The patient has been followed up for over 10 years and her visual acuity stayed stable for decades long until she took HCQ for 13 months.Her vision decline terminated after she stopped taking HCQ.Although HCQ toxicity is highly related to the duration and daily dose,HCQ may aggravate visual impairment in certain individuals harboring OPA1 mutation.Patients with DOA should avoid using neurotoxic HCQ and other medications that may interfere mitochondrial metabolism.展开更多
基金This work was supported by an unrestricted grant from the Research to Prevent Blindness to the Washington University Department of Ophthalmology and Visual Sciences,and by a Research Award from the Vitreoretinal Surgery Foundation(JE).
文摘Hereditary,metabolic and toxic optic neuropathies cause bilateral,central vision loss and therefore can result in severe impairment in visual function.Accurate,early diagnosis is critical,as nutritional and toxic optic neuropathies may be reversible if identified early,and diagnosis of hereditary optic neuropathies can prevent unnecessary invasive workup,provide prognostic information,and allow for effective genetic counseling.Optical coherence tomography(OCT)is a valuable tool that aids in the diagnosis and prognostication of optic neuropathies as it allows for quantification of changes in the retinal ganglion cells(RGCs)and retinal nerve fiber layer(RNFL)over time.We review the characteristic clinical presentations of hereditary,metabolic and toxic optic neuropathies,with an emphasis on OCT findings.
基金supported by grants from the Guangdong Basic and Applied Basic Research Foundation(2023A1515011250).
文摘Dominant optic atrophy(DOA)is an inherited optic neuropathy and more than 75%of DOA patients harbor pathogenic mutations in OPA1.We reported a 39-year-old female harboring c.2119G>T mutation of OPA1 and manifested progressive visual impairment after hydroxychloroquine(HCQ)therapy.The patient’s visual impairment remained stable for 10 years until she began to take HCQ 13 months ago.She complained about progressively decreased vision in both eyes.Bilateral pale temporal optic disc was similar with that of 11 years ago.Optical coherence tomography showed bilateral moderate retinal nerve fiber layer thinning other than the nasal quadrant and general thinning of the inner retina in the macular.Microcystic macular edema was noted in nasal macular in both eyes.Visual field testing showed paracentral scotoma and microperimetry showed decrease sensitivity in the macular in both eyes.After the patient stopped taking HCQ,her functional tests including visual acuity,field testing and microperimetry testing was stable compared with those of 2 years ago.However,progressive inner macular and RNFL thinning was shown by OCT.OPA1 c.2119 G>T found in this patient was a mutation that had been rarely reported in previous studies.The patient has been followed up for over 10 years and her visual acuity stayed stable for decades long until she took HCQ for 13 months.Her vision decline terminated after she stopped taking HCQ.Although HCQ toxicity is highly related to the duration and daily dose,HCQ may aggravate visual impairment in certain individuals harboring OPA1 mutation.Patients with DOA should avoid using neurotoxic HCQ and other medications that may interfere mitochondrial metabolism.
