Cloudy Cornea with Arcus Juvenilis in a Case of Dense Deposit Disease.

A 25-year-old male patient presented with complaints of blurred vision in both eyes since 2 years. The patient was a known case of nephrotic syndrome with dyslipidaemia for which he was on diuretics and lipid-lowering agents for 3 years. On examination, his visual acuity was 6/9 in both eyes with cloudy cornea and arcus juvenilis. Fundus examination was within normal limits. On systemic work-up, his lipid profile was deranged with increased serum total cholesterol, very low density lipoprotein, low density lipoprotein and triglyceride. The serum high density lipoprotein was decreased. Renal function test revealed elevated serum creatinine with significant proteinuria. Renal biopsy was suggestive of dense deposit disease on immunofluorescence and transmission electron microscopy. Ocular manifestation of dense deposit disease is characterised by retinal drusen, pigmentary atrophy, choroidal neovascular membrane and atypical serous retinopathy. To the best of our knowledge, anterior segment changes in dense deposit disease has not been reported. This is the first case reporting cloudy cornea with arcus juvenilis in a case of dense deposit disease.

[Ocular manifestation in LCAT deficiency--a clinicopathological correlation]. / Okuläre Manifestation bei LCAT-Mangel - eine klinisch-histopathologische Korrelation.

BACKGROUND: Bilateral stromal corneal opacifications are important to detect potentially associated systemic diseases. Differential diagnosis includes, besides inflammatory diseases mucopolysaccharidoses, HDL deficiencies (LCAT deficiency, Tangier disease and fish eye disease), Schnyder's crystalline corneal dystrophy, lipid keratopathy, cystinosis, gout and mucolipidoses. CASE REPORT: The cornea of a 60-year old male patient, 180 cm height, showed milky hazy diffuse stromal inclusions with a prominent lipoid arc (VA O. D. 20/30 and O. S. 20/40, contre-jour VA less than 20/150). Ten years earlier, lattice corneal dystrophy was diagnosed. The cornea was thickened (0.61 mm). Except for the cornea, the anterior and posterior segments of the eye were unremarkable. Serum HDL concentration was decreased pathologically (7 mg/dl), although the LCAT activity was combined with apo-AI deficiency. Due to membrane instability, the erythrocytes showed target cell configuration. Penetrating excimer-laser keratoplasty was performed O. S. The epithelial wound closed only on the 32nd postoperative day. Histologically, the corneal stroma showed multiple vacuoles and amyloid deposits. Genetic analysis revealed two mutations in chromosome 16. CONCLUSION: To our knowledge, this is the second description in the literature of a patient with LCAT deficiency and secondary amyloidosis of the cornea. Additionally, LCAT deficiency is associated with anaemia and proteinuria. After a penetrating keratoplasty, prolonged wound healing is possible. Because of the bilateral corneal clouding, the ophthalmologist may help to identify patients with LCAT deficiency. Thus, it is possible to start antiarteriosclerotic therapy.