Introduction. Leber’s hereditary optic neuropathy (LHON) is a maternally inhe rited disorder affecting the optic nerves inwhich the typict clinical presentati on is subacute, painless, sequential visual loss in young...Introduction. Leber’s hereditary optic neuropathy (LHON) is a maternally inhe rited disorder affecting the optic nerves inwhich the typict clinical presentati on is subacute, painless, sequential visual loss in young adult males. Patients with LHON who have atypical clinical fee tures may be in itially misdiagnosed. O bservation. An 8-year-old boy developed an acute severe bilateral optic neurop athy associated wit pain and mild optic disc edema. Molecular genetic testing of his mitochondrial DNA revealed two point mutations, T14484C and G15257A. His vi sion began to improve within one month of onset of visual loss and eventually re covered to 20/15 in both eyes. Four years previously his oldest sister had acute ly lost vision in both eyes at age 12 years. Her young age, female gender, the b ilateral visual loss associate with pain, optic disc edema, absent family histor y of visual loss and negative workup were felt to be most consistent with a clin ical diagnosi of idiopathic optic neuritis of childhood. Her visual recovery whi ch began within two months of visual loss further supported the diagnosii She wa s retrospectively re-diagnosed with LHON after her younger brother was genetica lly confirmed. Conclusion. We describe two siblings with LHON whose time course from onset of visual loss to onset of visual recovery was unusually rapid. Becau se of other atypical features for LHON such as their young age at presentation, bilateral simultaneous visual loss and associated periorbital pain, their clinia profile appeared more typical of a demyelinating disease such as childhood opti c neuritis. The first affected sibling (sister) was initiall misdiagnosed. This report emphasizes that the clinical spectrum of LHON is variable and thus, LHON should be considered in any patient with an acute bilateral optic neuropathy, ev en in the absence of a positive family history. Correct diagnosis of this matern ally inherited disorder is important for assessment of visual prognosis and appr opriate genetic counseling.展开更多
文摘Introduction. Leber’s hereditary optic neuropathy (LHON) is a maternally inhe rited disorder affecting the optic nerves inwhich the typict clinical presentati on is subacute, painless, sequential visual loss in young adult males. Patients with LHON who have atypical clinical fee tures may be in itially misdiagnosed. O bservation. An 8-year-old boy developed an acute severe bilateral optic neurop athy associated wit pain and mild optic disc edema. Molecular genetic testing of his mitochondrial DNA revealed two point mutations, T14484C and G15257A. His vi sion began to improve within one month of onset of visual loss and eventually re covered to 20/15 in both eyes. Four years previously his oldest sister had acute ly lost vision in both eyes at age 12 years. Her young age, female gender, the b ilateral visual loss associate with pain, optic disc edema, absent family histor y of visual loss and negative workup were felt to be most consistent with a clin ical diagnosi of idiopathic optic neuritis of childhood. Her visual recovery whi ch began within two months of visual loss further supported the diagnosii She wa s retrospectively re-diagnosed with LHON after her younger brother was genetica lly confirmed. Conclusion. We describe two siblings with LHON whose time course from onset of visual loss to onset of visual recovery was unusually rapid. Becau se of other atypical features for LHON such as their young age at presentation, bilateral simultaneous visual loss and associated periorbital pain, their clinia profile appeared more typical of a demyelinating disease such as childhood opti c neuritis. The first affected sibling (sister) was initiall misdiagnosed. This report emphasizes that the clinical spectrum of LHON is variable and thus, LHON should be considered in any patient with an acute bilateral optic neuropathy, ev en in the absence of a positive family history. Correct diagnosis of this matern ally inherited disorder is important for assessment of visual prognosis and appr opriate genetic counseling.
