A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome.

Purpose: To gain a better understanding of the pathogenesis of ectopia lentis and myopia in Marfan syndrome, studies were performed to determine the distribution and structure of fibrillin microfibrils in the lens capsule of normal subjects and of subjects with Marfan syndrome.

Methods: Frozen sections and/or flat mounts of lens capsules were prepared from six autopsy eyes, nine surgical capsulotomy specimens obtained at the time of cataract extraction, and five capsules from patients with Marfan syndrome obtained at intracapsular lens extraction. Avidin-biotin-peroxidase complex (ABC) immunoperoxidase or immunofluorescence staining with monoclonal antifibrillin antibody was used to localize fibrillin in lens capsules.

Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis.

Background: Familial adenomatous polyposis (FAP) results from a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21. The extracolonic manifestations of FAP include pigmented ocular fundus lesions (POFLS), cutaneous cysts, osteomas, occult radio-opaque jaw lesions, odontomas, desmoids, and extracolonic cancers. POFLS are present at birth in about 80% of patients with FAP and are excellent clinical congenital markers for the disease.

Ocular findings in the Hermansky-Pudlak syndrome.

Background: The Hermansky-Pudlak syndrome (HPS) is defined by the autosomal recessively inherited triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis and accumulation of ceroid in tissues. Late complications include: interstitial pulmonary fibrosis; inflammatory bowel disease; and renal failure.

Patients And Methods: We undertook a non-concurrent prospective study of 55 Puerto Rican patients with HPS (age range 1 to 54 yrs; mean = 19.