Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

Purpose: Investigation of a possible association between vertical corneal striae and mutations in the COCH gene, observed in four DFNA9 families with autosomal dominant hearing loss and vestibular dysfunction.

Design: Prospective case series.

Methods: Ophthalmologic examinations with photography of the cornea after instillation of fluorescein were performed in 98 family members with 61 mutation carriers of four DFNA9 families at the Radboud University Nijmegen Medical Centre.

Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy.

Purpose: In 1980, we published in the American Journal of Ophthalmology two siblings with hereditary ataxia and atrophic maculopathy. The report is cited in the literature as autosomal dominant cerebellar ataxia with retinal degeneration. The purpose of the present study is to document the progression of the neurodegenerative disorder and to review the diagnosis.

Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.

Purpose: To report the ocular manifestations associated with the Sjögren-Larsson syndrome in a series of patients with proven fatty aldehyde dehydrogenase deficiency. To emphasize the clinical importance of the ophthalmological features of the Sjögren-Larsson syndrome. To discuss the metabolic disturbances that might give rise to the ophthalmological picture.

Hereditary retinal dystrophies and choroidal neovascularization.

Background: Choroidal neovascularization infrequently occurs in patients affected by hereditary retinal dystrophies.

Methods: We studied eight patients suffering from different hereditary retinal dystrophies (Best's disease, reticular dystrophy, butterfly-shaped dystrophy, gyrate atrophy, and retinitis pigmentosa) who developed choroidal neovascularization. All patients underwent complete ophthalmic evaluation, electrophysiology, colour vision testing, and fluorescein angiography.

Anomaloscope examination in macular gliosis, macular holes and central serous choroidopathy.

Background: Surgery for macular gliosis and macular holes has become increasingly successful with regard to anatomical outcome. Assessment of the damage to the receptors by these processes is still difficult, but is important in predicting functional outcome.

Methods: Examination with the Nagel II or the Neitz OT anomaloscope was performed in 36 patients with macular gliosis, 23 patients with full-thickness macular holes and 47 patients with central serous choroidopathy.