TY - JOUR
T1 - Late Onset Optic Neuropathy in Methylmalonic and Propionic Acidemia
AU - Williams, Zoë R.
AU - Hurley, P. Emmett
AU - Altiparmak, Ugur E.
AU - Feldon, Steven E.
AU - Arnold, Georgianne L.
AU - Eggenberger, Eric
AU - Mejico, Luis J.
N1 - Funding Information:
This study was supported by unrestricted Grants from Research to Prevent Blindness, Inc, New York, New York, and Lions District 20-Y1, Syracuse, New York. The authors indicate no financial conflict of interest. Involved in design of study (Z.R.W., P.E.H., U.E.A., E.E., L.J.M.); analysis and interpretation (Z.R.W., P.E.H., U.E.A., S.F.F., G.C.A., E.E., L.J.M.), writing the article (Z.R.W., P.E.H., U.E.A., L.J.M.), critical revision of the article (S.F.F., G.C.A., E.E., L.J.M.), final approval of the article (S.F.F., E.E., L.J.M.), data collection (Z.R.W., P.E.H., U.E.A., G.C.A.), provision of patients (S.F.F., E.E., L.J.M.), literature search (Z.R.W., P.E.H., U.E.A., S.F.F., L.J.M.), and technical support (S.F.F., G.C.A., E.E., L.J.M.). SUNY Upstate Medical University Institutional Review Board (IRB) has waived the need for approval of this research, which adheres to the Declaration of Helsinki and all federal and state laws in our country.
PY - 2009/5
Y1 - 2009/5
N2 - Purpose: To describe 3 cases of late-onset bilateral optic neuropathy with visual dysfunction in patients with organic acidemia. Design: Retrospective case series. Methods: A total of 3 subjects, a 16-year-old male with methylmalonic acidemia (MMA), a 21-year-old male with MMA, and a 20-year-old female with propionic acidemia (PA), are included in this series. Comparison of the patients' clinical course, ophthalmologic exam, and testing are discussed. The outcome measures include visual acuity (VA), fundus appearance, visual fields, brain imaging, and genetic testing. Results: All 3 subjects had late-onset severe bilateral VA loss with bilateral optic nerve pallor, central or cecocentral scotomas on visual field testing, and negative diagnostic workups for other causes of bilateral optic neuropathy. Conclusions: Patients with organic acidemia may develop late-onset bilateral optic neuropathy with visual dysfunction despite lifelong propiogenic amino acid restriction and dietary supplementation.
AB - Purpose: To describe 3 cases of late-onset bilateral optic neuropathy with visual dysfunction in patients with organic acidemia. Design: Retrospective case series. Methods: A total of 3 subjects, a 16-year-old male with methylmalonic acidemia (MMA), a 21-year-old male with MMA, and a 20-year-old female with propionic acidemia (PA), are included in this series. Comparison of the patients' clinical course, ophthalmologic exam, and testing are discussed. The outcome measures include visual acuity (VA), fundus appearance, visual fields, brain imaging, and genetic testing. Results: All 3 subjects had late-onset severe bilateral VA loss with bilateral optic nerve pallor, central or cecocentral scotomas on visual field testing, and negative diagnostic workups for other causes of bilateral optic neuropathy. Conclusions: Patients with organic acidemia may develop late-onset bilateral optic neuropathy with visual dysfunction despite lifelong propiogenic amino acid restriction and dietary supplementation.
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U2 - 10.1016/j.ajo.2008.12.024
DO - 10.1016/j.ajo.2008.12.024
M3 - Article
C2 - 19243738
AN - SCOPUS:64449086828
SN - 0002-9394
VL - 147
SP - 929
EP - 933
JO - American journal of ophthalmology
JF - American journal of ophthalmology
IS - 5
ER -