INITIAL DIAGNOSIS OF AMBLYOPIA LATER PROVES TO BE LEBER’S HEREDITARY OPTIC NEUROPATHY: A CASE REPORT AND REVIEW OF THE LITERATURE

Connie Chronister

Abstract

BACKGROUND: Leber’s hereditary optic neuropathy (LHON) can mimic a host of benign conditions along with many other potentially life or vision threatening conditions. Since it is typically found in teenage males and has very subtle clinical findings, it can be a difficult diagnosis. We present a case of a patient that had anomalous optic nerves along with an initial diagnosis of amblyopia that was ultimately diagnosed with LHON.

CASE REPORT(S). We present a case of a 12 year-old Hispanic male that was examined after failing a school vision screening due to poor acuities of 20/40 OD and 20/400 OS. Cover test was recorded as a possible left esotropia, but his fixation was very poor. He had no afferent pupillary defect. Color vision was 9/9 OD and 7/9 OS using Ishihara plates. There was no stereo and Worth 4-Dot showed suppression of the OS at 3 feet. Retinoscopy showed +2.25-0.75 X 90 OD and plano sphere in the OS. Initial diagnosis was probable amblyopia OS with hypoplastic optic nerve heads. A neuro-ophthalmic evaluation revealed that his best-corrected acuity had decreased to 20/200 OD and count fingers OS. By tangent screen testing, he reported a 10° relative scotoma OD and a 20° central scotoma in the OS. Fundus examination along with digital photography, allowed more in-depth analysis of the optic nerve. The right small optic disc had a crowded nerve fiber layer and temporal Paton’s folds along with pallor of the temporal optic nerve head. The left disc showed a crowded nerve fiber layer, subtle temporal disc pallor with telangiectatic peripapillary disc vessels. Blood studies revealed point mutations of T3394C and G11778A which confirmed a diagnosis of LHON. Vision rehabilitation and genetic counseling were sought.

CONCLUSIONS. LHON is a bilateral optic neuropathy of mitochondrial inheritance causing significant painless, central vision loss and dyschromatopsia. Our poster includes a review of LHON; it’s etiology, differential diagnosis and management. LHON should be considered for anyone presenting with unexplained visual loss.

Details

Year: 2001

Program Number: Poster 116

Author Affiliation: Pennsylvania College of Optometry

Co-Authors: Colleen Burns, Stephen Merckle

Co-Author Affiliation: Pennsylvania College of Optometry, Pennsylvania College of Optometry

Room: Poster 116