The variable expressivity of a family with central areolar pigment epithelial dystrophy.

PURPOSE

To clarify the nosology of autosomal dominant central areolar pigment epithelial dystrophy (CAPED) as previously described.

METHODS

The authors studied a family of 69 members spanning six generations with a macular dystrophy. Thirty-four patients were examined, and those found to be affected underwent further testing, including visual fields, electrophysiologic studies, and fluorescein angiography. Family history and medical records were used in three additional deceased patients.

RESULTS

Eleven patients were identified as having CAPED. The phenotype was inherited in an autosomal dominant fashion. Six of these patients were examined by us and had mid-life onset (at 32-53 years) of progressive visual loss (20/50--counting fingers), occurring over a 3- to 10-year period. These subjects had circumscribed hypopigmented maculae, retinal pigment epithelial window defects on fluorescein angiography, central scotomas, and electrophysiologic studies, ranging from normal to severely abnormal. Three deceased patients were presumed to have CAPED by review of records or family history. Two additional patients examined had mild macular changes but good visual acuity and no significant abnormalities on electrophysiologic studies. The latter two patients are presumed to have had early manifestations of CAPED.

CONCLUSION

This family demonstrates that CAPED is an autosomal-dominant hereditary macular dystrophy which has late-onset and variable expressivity.