Schnyder korneal distrofi: Oküler bulgular ve hiperlipoproteinemi

Özet

Schnyder komeal distrofisi nadir görülen, santral ve periferal kornea¬da anormal lipid birikimi olan herediter bir hastalıktır. Denizli ilinde Scbnyder korneal distrofili bir aile saptanarak hastalığın oküler bulgu¬ları ve hiperlipoproteinemi ile olan ilişkisi tartışıldı. 54 bireyden oluşan aileden 31 hasta muayene edildi. 5 olguda Schnyder korneal distrofi belirlendi. Tüm olgularda bilateral santral .diskiform korneal opasite ve arkus lipidozis mevcutdu. 3 olguda santral diskiform opa-site ile arkus lipidozis arası kornea saydamken 2 olguda diffüz korneal bulanıklık belirlendi. 4 olguda bilateral komeal kristal birikimi izlenir¬ken, 1 olguda kristal depozit yoktu. 5 olgunun yalnızca 2'sinde ve kor¬neal bulgusu olmayan bir aile bireyinde Tip IIA hiperlipoproteinemi saptandı. Schnyder korneal distrofislnin farklı klinik formlarla karşımıza çıkabileceği ve korneal bulgularla sistemik hiperlipidemi arası direkt ilişki bulunmadığı kanısına varıldı.

Abstract

Schnyder's Comeal Dystrophy: Ocular Findings and Hyperlipoproteinemia Schnyder's corneal dystrophy Is an uncommon hereditary disease in which there is abnormal deposition of lipid in the central and peripheral cornea. A family with Schny¬der's corneal dystrophy has been identified in Denizli, and ocular manifestations of the disease and relations¬hips between hyperlipoproteinemia were discussed. Of the 54 members of these pedigrees, 31 patients were exami¬ned. 5 cases had Schnyder's corneal dystrophy. All affec¬ted individuals had bilateral central disc-like corneal opa-cification and arcus lipoides. The intervening stroma bet¬ween central disciform opacity and arcus lipoides was clear in 3 patients, while 2 patients had diffuse corneal haze. 4 cases had bilateral corneal crystalline deposits but 1 case had no crystalline deposition. Only 2 of the 5 affected individuals and one of the siblings with, no cor¬neal sign had type IIA hyperlipoproteinemia. It is conclu¬ded that, clinical manifestations of Schnyder's corneal dystrophy may fall within a spectrum and there is no di¬rect relationship between systemic hyperlipidemla and corneal findings.