|Title||AUTOSOMAL DOMINANT OPTIC ATROPHY (KJER'S)|
|Author, Co-Author||Aleksandra Zlotnik, Margarita Bauman, Jerome Sherman, Andrew DiMattina|
|Abstract|| BACKGROUND: Autosomal dominant optic atrophy is a form of slowly progressive optic neuropathy, usually with its onset in the first decade of life. DOA, also known as Kjer’s optic neuropathy, is considered the most common form of autosomally inherited (non-glaucomatous) optic neuropathy. Genetic studies localized a dominant optic atrophy gene OPA1 mapped to chromosome 3.A defective nuclear OPA1 gene product may cause a derangement in mitochondrial metabolic function and may explain pathophysiologic process in DOA.
CASE REPORT(S): A 8 year old Hispanic male presented with complaints of progressive bilateral decrease in vision over past 2 years, reduced color vision and visual field. He had been previously diagnosed with Leber’s hereditary optic neuropathy in Brazil. His father was diagnosed with the same condition. BCVA 20/60 OD/OS. Pupils PERRL with no afferent papillary defect. Slit lamp examination was unremarkable. Color vision was abnormal. IOP’s were 12mmHg OU. DFE revealed 0.6 OD and 0.65 OS with temporal pallor OU. Visual field demonstrated a cecocentral scotoma and paracentral defect OD>OS. GDxVCC showed only a temporal rim thinning OS>OD. The examination of the patient’s father, a 33 year old Hispanic male, demonstrated similar findings: reduction in vision at age 7-8, which stabilized at age of 12. BCVA 20/100 OD/OS, color vision defect, C/D 0.75 OU with only temporal rim thinning confirmed on GDxVCC and OCT. The father of the patient revealed that similar eye problems run in the family with his uncle, mother and two brothers being affected. The ultimate diagnosis of autosomal dominant optic neuropathy was made based on the age of onset of vision problems, clinical picture and 3 successive generations with no sex predilection; whereas Leber's is only through maternal inheritance and never transferred from father. The patients will return for VEP testing, extended color vision evaluation.
CONCLUSIONS: The diagnosis of DOA is based on clinical manifestations and autosomal inheritance pattern.The discovery of OPA1 gene allows for precise diagnosis,counseling, and management.
|Affiliation of Co-Authors||State University of New York, College of Optometry, State University of New York, College of Optometry, State University of New York, College of Optometry|