Key result
Familial LCAT deficiency manifests with bilateral corneal deposits, retinal hemorrhages, and Bruch membrane rupture.
Case Report (n=2)
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Two patients with Familial LCAT‐deficiency are presented. Deposits of minute, grayish dots in the cornea gave it a nebulous appearance. Near the limbus these dots increased in numbers and formed a grayish, circular band resembling an arcus lipoides. These bilateral changes have been apparent from early childhood. The presence of arcus lipoides corneae before puberty should make the clinician think about this disease. Fundus changes including retinal hemorrhages, disc protrusion and rupture of Bruch's membrane may be explained by deposits of pathological lipid material into these structures. Nervous manifestations have been found in other dyslipoproteinemias, but have not previously been described in Familial LCAT‐deficiency.
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Hörven et al. (1974) conducted a case report in Familial LCAT-deficiency (n=2). Familial LCAT-deficiency was evaluated on Corneal and fundus changes. Familial LCAT-deficiency in 2 patients presented with bilateral arcus lipoides-like corneal deposits from early childhood, retinal hemorrhages, disc protrusion, and Bruch's membrane rupture.
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