Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies.
Leber's congenital amaurosis (LCA), a type of congenital blindness, is clinically and genetically heterogeneous and often associated with systemic anomalies. We report on two sisters who were born to a consanguineous couple and had retinitis pigmentosa-like pigmented retinal lesions, alternating exotropia, bilateral cataracts, and anomalous coarse facies characterized by deformed skull with narrow forehead, low anterior hairline, hypertelorism, short philtrum, thin upper lip, and prominent jaw; cerebellar vermis hypoplasia; dilatation of the fourth ventricle; severe mental retardation; tremor; brisk deep tendon reflexes and abnormal behavior; and skeletal abnormalities such as limited extension of elbow and/ or finger joints and talipes equinovalgus. Skin defect and renal anomalies were seen in only one patient. Our patients are the first familial LCA associated with cerebellar vermis hypoplasia, and the disease involving particular multiple systemic anomalies may represent a distinct clinical entity.
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume City, Japan.
S
S
Yano
K
K
Oda
Y
Y
Watanabe
S
S
Watanabe
T
T
Matsuishi
K
K
Kojima
T
T
Abe
H
H
Kato
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001766:Blindness / Q000151:congenital* / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities*; D003241:Consanguinity; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D008607:Intellectual Disability; D009679:Nuclear Family; D015418:Optic Atrophies, Hereditary / Q000235:genetics*