Domanda n. 2

Yichieh Shiuey, MD
Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA

 

  1. What is the differential diagnosis of this funduscopic picture?
  2. What is the prognostic significance of a diagnosis of fundus albipunctatus vs. retinitis punctata albescens?
  3. What is the characteristic fluorescein finding of fundus flavimaculatus?
  4. What is the age of onset of familial dominant drusen?
  5. What is characteristic about the ERG in fundus albipunctatus which distinguishes it from retinitis punctata albescens?
 

RISPOSTE

Figure 1: Fundus Albipunctatus - There are multiple yellow-white lesions at the level of the RPE.
  1. What is the differential diagnosis of this funduscopic picture?
    Answer: The classic differential diagnosis of a flecked retina include: fundus flavimaculatus, familial dominant drusen, fundus punctata albescens, and fundus albipunctatus. Other conditions that can present as retinal spots include: fleck retina of Kandori, macular degeneration with cholesterol deposits, "peau de orange" of pseudoxanthoma elasticum, and Bietti's crystalline retinal dystrophy.

     

  2. What is the prognostic significance of a diagnosis of fundus albipunctatus vs. retinitis punctata albescens?
    Answer: Fundus albipunctatus is a form of congenital stationary night blindness and would not be expected to produce progressive visual loss. Retinitis punctata albescens acts clinically like retinitis pigmentosa and results in progressive visual field loss, night-blindness, and retinal vascular attenuation.

     

  3. What is the characteristic fluorescein finding of fundus flavimaculatus?
    Answer: The classic fluorescein finding is the dark choroid effect, which is due to the blockage of choroidal fluorescence by the accumulation of lipofuscin-like material in the RPE.

     

  4. What is the age of onset of familial dominant drusen?
    Answer: The usual age of onset is between the 2nd and 4th decades. It is thought to represent an early form of age-related macular degeneration.

     

  5. What is characteristic about the ERG in fundus albipunctatus which distinguishes it from retinitis punctata albescens?
    Answer: Patients with fundus albipunctatus may have regeneration of the scotopic ERG waveforms with prolonged dark adaptation. Two families have been described where the ERG was abnormal at 30 minutes, but normalized after 4 hours of dark adaptation. Regeneration of the ERG does not occur with retinitis punctata albescens.