MACULAR OCT AS THE KEY FOR DIAGNOSING ACHROMATOPSIA IN PATIENTS WITH NYSTAGMUS

Title MACULAR OCT AS THE KEY FOR DIAGNOSING ACHROMATOPSIA IN PATIENTS WITH NYSTAGMUS
Author, Co-Author Kristine Zabala, Scott Richter, Sherry Bass
Topic
Year
2013
Day
Program Number
135945
Room
Room 6C
Affiliation
Abstract BACKGROUND:
Patients are frequently referred to neuro-ophthalmic specialists for consultation to rule out neurological causes of nystagmus. With the advent of new technology such as optical coherence tomography (OCT), fundus autofluorescence, microperimetry, electroretinograms and visually evoked potentials, these tests allow us as clinicians to make better clinical decisions, including avoiding neurological work-up in our patients. We present two cases that were referred to the Neuro-ocular service at SUNY for nystagmus. Our clinical examination revealed that the patients had congenital nystagmus secondary to achromatopsia. A baseline macular OCT was crucial in making the diagnosis and appropriate referral.

CASE REPORT(S):
Our first patient is a 51 year old male that was referred to our service for nystagmus and longstanding decreased vision. He had been seen previously in the Primary Eye Care clinic with complaints of extreme photophobia partially attributed to significant dry eye. Our examination revealed best corrected visual acuities of OD,OS 20/200 and dyschromatopsia. A macular OCT revealed a subfoveal area of photoreceptor disruption. A diagnosis of achromatopsia was made, and the patient was referred to our Hereditary Retinal Disease (HRD) service for evaluation. Our second patient is a 22 year old female, also referred for nystagmus. At her consultation, she reported longstanding decreased vision in both eyes. Best corrected visual acuities were OD,OS 20/200; dyschromatopsia was also noted. A macular OCT was also done revealing a similar subfoveal area of photoreceptor disruption. She was tentatively diagnosed with achromatopsia, which was later confirmed at her consultation with the HRD service.

CONCLUSIONS:
In patients with nystagmus, we must be cognizant of other possible non-neurological etiologies. While probing the patient's case history and symptoms can help clue us in to these other etiologies, these two cases highlight the importance of technology in improving our clinical decision making and in avoiding costly auxiliary testing including neuro-imaging in our patients.
Affiliation of Co-Authors State University of New York, College of Optometry
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