Optic nerve axon number in mouse is regulated by PAX2.

Background: Papillorenal syndrome is an autosomal-dominant disease caused by mutations in the PAX2 transcription factor gene. Patients often exhibit congenital excavation of the optic nerve and a spectrum of congenital kidney abnormalities. Using a novel mouse model of this syndrome (C57BL/6J PAX2(A220G/+)), we investigated the effect of PAX2 haploinsufficiency on optic nerve axon number.

Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy.

Purpose: To report variations in the inheritance pattern and clinical presentation of crystalline retinopathies.

Methods: Two different families with crystalline retinopathy were studied with a complete family history and ophthalmologic examination including Goldmann kinetic perimetry and electroretinography. Genetic studies were performed in one of the families.

Interphotoreceptor retinoid-binding protein (IRBP)-deficient C57BL/6 mice have enhanced immunological and immunopathogenic responses to IRBP and an altered recognition of IRBP epitopes.

Experimental autoimmune uveitis (EAU) and pinealitis (EAP) can be induced in susceptible mice by immunization with immunologically privileged retinal antigens. In the present study, we analyzed the immunologic and immunopathologic responses of mice deficient in the retinal autoantigen interphotoreceptor retinoid-binding protein (IRBP). The consequences of IRBP deficiency on the T-cell repertoire were also investigated.

Neuroanatomy of the extraocular muscle tendon enthesis in macaque, normal human, and patients with congenital nystagmus.

Purpose: To search for the presence of, and qualitatively characterize the microscopic anatomy of, nerve terminals in the tendino-scleral (enthesial) area of the extraocular muscle tendon.

Methods: Extraocular rectus muscle tendino-scleralspecimens from a macaque monkey, a normal human, cadavers, and patients with congenital nystagmus were obtained and studied with transmission electron microscopy.

Results: Enthesial neurovascular structures were identified in all specimens.