Analyi of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: i retinal toxicity by chloroquine and hydroxychloroquine related to targardt dieae?

PURPOE: To determine if mutation in ABCR (ABCA4) are aociated with chloroquine/hydroxychloroquine retinopathy. METHOD: DNA from eight patient with chloroquine or hydroxychloroquine retinopathy wa tudied. Control were 80 individual over age 65 year with normal retinal examination. Ophthalmocopy, color viion teting, viual field, retinal photography, and fluorecein angiography were performed on the eight patient. Direct DNA equencing of the exon and flanking intronic region of the ABCR gene wa completed for all patient. REULT: Clinical evaluation confirmed the diagnoi of chloroquine/hydroxychloroquine retinopathy and excluded targardt dieae in each patient. Two patient had heterozygou ABCR miene mutation previouly aociated with targardt dieae. None of the control had thee miene mutation. Three other patient had other miene polymorphim. CONCLUION: ome individual who have ABCR mutation may be predipoed to develop retinal toxicity when expoed to chloroquine/hydroxychloroquine. We urge further tudy of a larger cohort of patient with chloroquine/hydroxychloroquine retinopathy