Pediatric hereditary macular degenerations

Traditionally, hereditary macular degenerations have been distinguished from age-related forms of macular degeneration that typically begin after the age of 50. We describe here three different juvenile hereditary macular degeneration syndromes for which there are characteristic clinical macular anatomic appearances. Stargardt macular dystrophy (STGD) [1-3], Best macular dystrophy (BMD) [2, 4, 5] and juvenile X-linked retinoschisis (JXRS) [2, 6-8], the so-called juvenile macular degenerations, were initially characterized by distinctive fundus findings [187]. The genetic basis of these conditions was recognized early on. They have been the focus of much interest lately, in part because they are among the most frequent causes of blindness in children, and in part because an understanding of the underlying mechanisms may be relevant for the much more common age-related forms of macular dystrophy. Other forms of juvenile hereditary retinal dystrophies, such as Leber's congenital amaurosis, rod cone monochromacy, and blue cone monochromacy, in which a macular degeneration is not a pathognomonic clinical anatomic characteristic are reported elsewhere (e.g., 4). We do not include a focus on cone degenerations which are panretinal in nature and are treated elsewhere.