Based on the investigations in these patients the authors propose the hypothesis that foveal hypoplasia and misrouting exist as a distinct entity, and do not comprise the exclusive hallmark of albinism. The findings suggest that misrouting may exert a retrograde influence on foveal development.

Peripheral hypertrophic scars in presumed congenital toxoplasmosis can be vascularized from the choroid. A vasoproliferative tumor of the sensory retina, secondary to presumed congenital toxoplasmosis scars, can cause vitritis and exudative/traction retinal detachment. Early coagulation of this lesion may prevent a poor outcome.

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet 1995;4:415-22. 3 Nishimura DY, Swiderski RE, Alward WL, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998;19:140-7. 4 Flomen RH, Vatcheva R, Gorman PA, et al. Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 1998;47:409-13. 5 Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counselling.

This paper describes the clinical history of a young boy with Kearns-Sayre syndrome. The first presenting symptom of Kearns-Sayre syndrome in this boy was corneal edema with photophobia and tearing.