Macular Dystrophy, Fenestrated Type

The earliest fundus findings consisting of a yellowish refractile sheen (about 1 disc diameter in size) with red fenestrations in the central macula were found in a 4 year old.  Changes in macular pigmentation were noted at the age of 16 years.  Visual acuity remains normal.  By the third decade of life an annular zone of hypopigmentation could be seen around the sheen and this gradually enlarged.  The sheen seemed to emanate below the retinal vessels but anterior to the RPE.  At the center a ‘bull’s eye’ pattern of hyperpigmentation appeared.  By the 6^th decade of life paracentral scotomas were present causing some visual disturbance.  Fluorescein angiography reveals no abnormalities in the sensory retina or retinal vasculature but an annular zone of window defects around the ‘bull’s eye’ can be seen.  The scotopic ERG can be normal while the amplitudes of the photopic ERG may show a mild reduction in amplitude and the EOG light-dark ratio can also be slightly reduced.  Mild red-green color deficits can be demonstrated.