The nanophthalmic macula

Abstract

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 exhibited the same clinical findings of an unusual yellow macula appearance with retinal folds and crowded optic discs. Visual electrophysiology performed in four cases was normal.

Conclusion: A distinctive yellow macular pigmentation with associated chorioretinal folds and crowded optic discs is present in nanophthalmos. It is proposed that the retinal folds are due to a disparity between scleral and retinal growth while the macula discoloration is due to a congenital abnormality in arrangement or position of the luteal pigment and is not degenerative. Included in this case series is the second case in the literature of nanophthalmos associated with Kenny's syndrome. Inheritance of nanophthalmos appears to be autosomal recessive.

Figure 1

Fundus photograph of case 1 with a retinal pigment epithelial disturbance evident along with a yellow appearance at macula, retinal folds, and crowded optic discs.

Figure 2

Fundus photograph of case 1 with a retinal pigment epithelial disturbance evident along with a yellow appearance at macula, retinal folds, and crowded optic discs.

Figure 3

This shows the prominent yellow appearance at the macula with a tag appearance centrally, retinal folds and crowded optic discs.

Figure 4

Fundal photograph showing a generalised retinal pigment epithelial disturbance, a prominent yellow macula appearance, retinal folds, and crowded optic discs.

Figure 5

Fundal photograph showing a generalised retinal pigment epithelial disturbance, a prominent yellow macula appearance, retinal folds, and crowded optic discs.

Figure 6

Presumed Kenny's syndrome with atypical facial appearance, short stature, prominent forehead, and micrognathia as well as nanophthalmia.