Clinical Evaluation of 3 Families With Basal Laminar Drusen Caused by Novel Mutations in the Complement Factor H Gene

Abstract

Elucidation of the clinical BLD phenotype will facilitate identification of individuals predisposed to developing disease-related comorbidity, such as membranoproliferative glomerulonephritis type II. Moreover, with upcoming treatment modalities targeting specific components of the complement system, early identification of patients with BLD and detection of the genetic defect become increasingly important.

Localised relative scotoma in cuticular drusen

“…It should be noted that, in the aforementioned study, all patients had the clinical diagnosis of intermediate AMD, and that cuticular drusen were defined as the 'predominant' drusen type in the patient's eye. Hence, it is likely that the presence of soft drusen, which typically coexists in older patients with cuticular drusen [16], may contribute to the reduction of retinal sensitivity [17]. In support of our postulation, our patient cohort was younger (mean [SD]: 48.8 [12.9]) than the aforementioned study (57.9 [8.8]).…”

The Association Between Cuticular Drusen and Kidney Function

“…Despite known associations between CD and membranoproliferative glomerulonephritis (MPGN) Type II, [11][12][13] retinal drusen and kidney disease 9-12 and the established role of complement in both CD and kidney disease, 4,5,14,15 we found no correlation between CD and decreased renal function at a population level. We did not find a significant difference between the CD group and controls in mean eGFR or the mean serum creatinine.…”

Clinical Manifestations of Cuticular Drusen: Current Perspectives

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