ABSTRACT
Up to now no uniform classification exists describing all pathologically altered ocular parts in albinism (iris, degree of hypopigmentation of the retinal pigment epithelium, degree of hypoplasia of the fovea, optic nerve head). We present a classification and its use in n = 287 patients wit albinism. A special focus is laid on the findings of the optic nerve head (ONH). In albinism altered shapes and pale ONHs are frequent and about 1/3 of all the patients have ONH hypoplasia or dysplasia. There are significant correlations (all albinism types) between a high degree of ONH pathology and a very severe visual impairment and a high astigmatic refraction. The highest percentage of ONH dysplasia occurs in type OCA1, but the correlations apply for all albinism types. ONH morphology therefore is a prognostic hint in small children for the visual acuity which can be achieved later. The morphological classification stood the test: with the classification it is possible to compare groups of patients with different types of albinism, it is possible to set examination standards in different clinical centers, furthermore correlations between morphological findings and functional, orthoptic and nystagmographic parameters are possible and the course of pigmentation (longitudinal study) of individual children during the first 10 years of life.
