Methods: High-resolution macular images were obtained by adaptive optics scanning laser ophthalmoscopy and spectral domain optical coherence tomography in 3 patients with USH3 and were compared with those of age-similar control subjects. Vision function measures included best-corrected visual acuity, kinetic and static perimetry, and full-field electroretinography. Coding regions of the CLRN1 g...

1. In nine patients with chronic liver disease photoreceptor function was tested, by measurement of the B-wave amplitude of dark adaptation by electroretinography, and the leucocyte content and plasma concentration of zinc were determined. 2. Four of the patients were leucocyte zinc-depleted and had impaired photoreceptor function, but this was normal in the five with normal leucocyte zinc cont...

This report describes presumed atypical hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome associated with unexpected ocular findings. The patient had exotropia, bilateral band keratopathy, and pigmentary retinopathy, including attenuated retinal vessels and atrophy of the retinal pigment epithelium. Even though the calcific plaques were successfully removed, visual acuity in both...

purpose : to evaluate the incidence of leber’s congenital amaurosis (lca) in low vision children referred to electrophysiology ward of farabi eye hospital , and review the clinical features of disease and electroretiongraphy (erg) test values to confirm the diagnosis and severity of the disease in iran . design: prospective observational case series methods : two-hundred and fifteen cases of lo...

METHODS. Retinal ischemia–reperfusion injury was performed on p55 and p75 knockout (KO) mice and Sprague–Dawley rats using the high intraocular pressure method. The temporal expression of TNFwas ascertained with immunohistochemical staining. Separate rats received intravitreal recombinant TNFor neutralizing antibody before or after ischemia. TUNEL labeling was performed to assess for cell death...

PURPOSE To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN Retrospective cohort study. PARTICIPANTS Fifty-five patients with CRB1-associated retinal dystrophies from 16 families. METHODS A medical record review of 55 patients for age at onset, medical history, initial symptoms, best-correcte...