THE NANOPHTHALMIC MACULA

Aims-To define an unusual macular appearance found in association with nanophthalmos. Methods-A case review. Results-Seven children (aged 8 months to 17 years) with nanophthalmos were examined. They all exhibit ed the same clinical findings of an unusual yellow macula appearance w ith retinal folds and crowded optic discs. Visual electrophysiology pe rformed in four cases was normal. Conclusion-A distinctive yellow macu lar pigmentation with associated chorioretinal folds and crowded optic discs is present in nanophthalmos. It is proposed that the retinal fo lds are due to a disparity between scleral and retinal growth while th e macula discoloration is due to a congenital abnormality in arrangeme nt or position of the luteal pigment and is not degenerative. Included in this case series is the second case in the literature of nanophtha lmos associated with Kenny's syndrome. Inheritance of nanophthalmos ap pears to be autosomal recessive.