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Punctate inner choroidopathy (PIC), an idiopathic inflammatory multifocal chorioretinopathy that predominantly affects young myopic women, appears to be relatively rare, but there are limited data to support accurate estimates of prevalence, and it is likely that the condition is underdiagnosed. The etiological relationship between PIC and other conditions within the “white dot syndromes” group remains...
Ectopia lentis (EL) is genetically heterogeneous with both autosomal‐dominant and ‐recessive forms. The dominant disorder can be caused by mutations in FBN1, at the milder end of the type‐1 fibrillinopathies spectrum. Recently in a consanguineous Jordanian family, recessive EL was mapped to locus 1q21 containing the ADAMTSL4 gene and a nonsense mutation was found in exon 11 (c.1785T>G, p.Y595X)...
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