These results give the first indications that erythropoietin might be neuroprotective in optic neuritis.

Oculocutaneous albinism (OCA) is caused by a deficiency of melanin synthesis and characterized by generalized hypopigmentation of skin, hair, and eyes. Due to the hypopigmentation of the retinal pigment epithelium, OCA is usually associated with congenital visual impairment, in addition to an increased risk of skin cancer. OCA is a genetically heterogeneous disease with distinct types resulting from mutations in different genes involved in the pathway which results in pigmentation. OCA1 is associated with mutations in the TYR gene encoding tyrosinase. OCA2 results from mutations in the P gene encoding the P protein and is the most common form of OCA. OCA3, also known as rufous/red albinism, is caused by mutations in the TYRP1 gene, which encodes the tyrosinase-related protein 1. Recently, OCA4 was described as a new form of OCA in a single patient with a splice site mutation in the MATP gene (or AIM1), the human ortholog of the murine underwhite gene. The similarity of MATP to transporter proteins suggests its involvement in transport functions, although its actual substrate is still unclear. We screened 176 German patients with albinism for mutations within the MATP gene and identified five individuals with OCA4. In this first report on West European patients, we describe 10 so far unpublished mutations, as well as two intronic variations, in addition to two known polymorphisms.

Congenital aniridia (Online Mendelian Inheritance in Man identifier, 106210) is a rare, severely visually impairing disease caused principally by heterozygous mutation in the paired box 6 (PAX6) gene that orchestrates normal ocular development. 1 The disease results in underdevelopment or abnormal development of eye structures including the cornea, leading to a bilateral and progressive limbal stem cell insufficiency and conjunctivalization of the cornea called aniridia-associated keratopathy (AAK). However, clinical manifestation of AAK, rate of progression, and prognosis can vary widely across individuals, precluding the development of general guidelines for treatment. Congenital aniridia can result from any of more than 400 unique mutations in the PAX6 gene that may lead to a spectrum of clinical phenotypes. 2 Aniridia-associated keratopathy phenotype can vary from a fully transparent cornea to a thick, opaque, vascularized pannus at any stage of life. As clinical genetic analysis becomes more sophisticated and widespread, the clinical consequence of various PAX6 mutations requires more detailed attention. However, to date, genotypeephenotype studies in aniridia describe the entire eye, 3,4 providing only general assessment of corneal opacity. Accordingly, we performed detailed clinical characterization of AAK phenotype across a range of ages and in parallel documented PAX6 mutational status to determine how genotype influences the clinical phenotype of AAK. Adult and pediatric patients with clinically diagnosed congenital aniridia included in a patient registry maintained at