The rat small eye strain (rSey) lacks eyes and nose in the homozygote, and is similar to the mouse Sey strain with mutations in the Pax-6 gene. We isolated Pax-6 cDNA clones from an rSey homozygote library, and found an internal deletion of about 600 basepairs in the serine/threonine-rich domain. At the genomic level, a single base (G) insertion in an exon generates an abnormal 5' donor splice site, thereby producing the truncated mRNA. Anterior midbrain crest cells in the homozygous rSey embryos reached the eye rudiments but did not migrate any further to the nasal rudiments, suggesting that the Pax-6 gene is involved in conducting migration of neural crest cells from the anterior midbrain.

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We experienced 2 females with systemic lupus erythematosus (SLE) who developed serous retinal detachment in the posterior pole of both eyes in its active phase. Fluorescein angiography showed multifocal pigment epithelial damages with fluorescein leakage into the subretinal space. However, retinal hemorrhages or cotton-wool spots typical of SLE were not observed in their courses.