Hereditary macular coloboma

Congenital macular coloboma is characterized by defined punched out atrophic lesions of the macula. The present study aimed to… Expand

A 3-year-old girl with Down syndrome presented with a macular lesion in both eyes. With intraoperative optical coherence… Expand

BackgroundLeber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which causes severe visual impairment in early… Expand

PURPOSE Cryotherapy for retinopathy of prematurity (ROP) is effective in reducing the incidence of blindness in premature infants… Expand

A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously… Expand

A 9-year-old girl with Down syndrome had bilateral congenital coloboma of the macula. She was born after an uneventful pregnancy… Expand

A malformation association comprising bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic… Expand

An autosomal dominant inherited macular coloboma, not combined with other dysmorphies, is reported. Because of a 'sporadic… Expand

Four cases of infantile idiopathic hypercalciuria with high congenital myopia and atypical macular coloboma are discussed; two of… Expand

Two families are described in which macular autosomal recessive retinal aplasia was confirmed by electroretinography. In one… Expand