Ophthalmologic screening of deaf students in Oregon.

Purpose: To determine the frequency of Usher's syndrome and other ocular disease in students receiving special education services for the deaf in Oregon and to assess the amount of existing ophthalmologic surveillance of this population. A special emphasis was placed on screening for Usher's syndrome.

Methods: From 1980-1990, a prospective two-center visual screening program of 231 deaf students in schools throughout Oregon was conducted using an ophthalmic questionnaire, complete eye examinations, and electroretinography.

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.

X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.

Background: Mutations in the RPGR gene at the RP3 locus have been found to cause x-linked retinitis pigmentosa in some families.

Objectives: To identify a previously undescribed 2-base pair insertion in codon 99 of the RPGR gene and to describe the phenotype in a well-characterized family with X-linked retinitis pigmentosa.

Design: Case reports with clinical features, fluorescein angiography, kinetic perimetry, electrophysiological studies, and molecular genetics.

Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.

Sorbsy fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually in the fourth or fifth decade. Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results.