Clinicopathological case series of four patients with inherited macular disease.

Purpose: To correlate the phenotype of four patients with inherited macular disease with the immunohistopathology of retinal tissue collected at the time of retinal pigment epithelium (RPE)-choroidal transplantation.

Methods: A clinicopathologic case series describing the phenotype of four patients, including confocal immunohistochemistry and electron microscopy (EM), and the results of genetic testing.

Results: In Case 1, electrophysiology showed only macular dysfunction.