AMAUROSIS CONGENITA DE LEBER PDF

– LEBER CONGENITAL AMAUROSIS 1; LCA1 – AMAUROSIS CONGENITA OF LEBER I;; LCA;; RETINAL BLINDNESS, CONGENITAL; CRB. – LEBER CONGENITAL AMAUROSIS 2; LCA2 – AMAUROSIS CONGENITA OF LEBER II. Leber’s congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. One form of LCA was successfully.

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In some of the affected children residual vision was found.

Leber’s congenital amaurosis

In most of the cases a marked nystagmus was present and photophobia was recorded in spite of the extremely poor visual function.

Even in the few cases in which the visual function was less defective, it was obvious that the pupil reactions were amaurrosis and incomplete. In some of the cases of complete blindness, however, a rudimentary pupil reaction was observed. In those cases having some residual vision, the visual amaurozis were in most instances not markedly contracted.

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In some of the lessaffected children a marked degree of night blindness was recorded.

OMIM Entry – # – LEBER CONGENITAL AMAUROSIS 1; LCA1

In the first months of life it was not possible to observe essential alterations in the fundus oculi.

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Orphanet: Leber congenital amaurosis

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