Roth S I, Mittelman D, Stock E L
Department of Pathology, Northwestern University Medical School, Chicago, IL 60611.
Cornea. 1992 Mar;11(2):165-72.
Posterior amorphous corneal dystrophy (PACD) is a rare autosomal-dominant disease, generally classified with the pre-Descemet's dystrophies. It is characterized by deep stromal corneal opacification, flat corneas with low keratometry values, and central thinning. To our knowledge, only one previous ultrastructural study has been published on this disease. This 5-year-old white boy presented with best corrected vision (20/50 right and 20/60 -2 left). The corneas had dense opacities, bilaterally, deep in the corneal stroma. Keratometry was 39.50/40.50, bilaterally. The patient's father had 20/20 vision, bilaterally, with minimal opacifications in the deep corneal stroma. A penetrating keratoplasty was performed. In contrast to the previously reported case of PACD, in which the abnormalities were largely limited to the stroma, our patient had subepithelial deposits, only mild stromal abnormalities, and a thick collagenous layer posterior to Descemet's membrane, thus suggesting that this variant of PACD is a generalized corneal disease including endothelial and epithelial abnormalities, rather than a pure stromal dystrophy.
后部无定形角膜营养不良（PACD）是一种罕见的常染色体显性疾病，通常归类于前弹力层下营养不良。其特征为角膜基质深层混浊、角膜平坦且角膜曲率计测量值低以及中央变薄。据我们所知，此前关于该疾病仅发表过一项超微结构研究。这个5岁的白人男孩最佳矫正视力为（右眼20/50，左眼20/60 -2）。双眼角膜基质深层有致密混浊。双眼角膜曲率计测量值为39.50/40.50。患者的父亲双眼视力为20/20，角膜基质深层仅有轻微混浊。进行了穿透性角膜移植术。与之前报道的PACD病例不同，之前病例的异常主要局限于基质，而我们的患者有上皮下沉积物、仅有轻度基质异常以及后弹力膜后方有一层厚厚的胶原层，因此提示这种PACD变体是一种包括内皮和上皮异常的全身性角膜疾病，而非单纯的基质营养不良。
