Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal
dystrophies, responsible for congenital blindness. Disease‐associated mutations have been …

Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited
retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has …

Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration
responsible for congenital blindness. Hitherto, 13 LCA genes have been mapped, nine of …

Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-
shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through …

The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8
cM interval on chromosome 17p12-p13. The retinal-specific guanylate cyclase gene …

Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for
congenital or early-onset blindness. The most common disease-causing mutation (> 10%) is …

Leber congenital amaurosis (LCA), the most early-onset and severe form of all inherited
retinal dystrophies, is responsible for congenital blindness. Ten LCA genes have been …

ABCR gene in 40 unrelated STGD and 15 FFM families and we show that mutations
truncating the ABCR protein consistently led to STGD. Conversely, all mutations identified in …

purpose. Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood
blindness characterized by visual impairment noted soon after birth. Variants in at least six …

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and
the most frequent cause of inherited blindness in children. LCA is usually inherited in an …