Dany Najjar, MD

HISTORY:

A 47 year old gentleman presents because of a longstanding history of poor vision in both eyes 
since the age of 20 years.  He was told to have an untreatable eye condition and is coming because
he heard about a “new modality of laser therapy that could possibly help him”.

His past medical and ocular histories are unremarkable. He is on no medications.

Family history is negative for any eye problems.

EXAM:

VOU =  CF 6m

TOU =  10 mm Hg

Pupils:  Equal & reactive OU ;  No APD

Anterior Segment:  Normal OU

Refraction:  OD:  Plano + 1.00 x 95

                  OS:  Plano + 0.50 x 85

FUNDUS EXAM:

Fig. 1

DIFFERENTIAL DIAGNOSIS:

1.     Fundus albipunctatus

2.     Retinitis Punctata Albescens

3.     Drusen

4.     Cone-Rod Dystrophy

5.     Chloroquine Maculopathy

FLUORESCEIN ANGIOGRAPHY:

Fig. 2: Click to enlarge

DIAGNOSIS:

? 

...

Fundus Flavimaculatus  ( Stargardt’s disease)

STARGARDT’S DISEASE:

  It is a hereditary macular dystrophy characterized by accumulation of lipofuscin pigment in the
 retinal pigment epithelial cells.

Inheritance is autosomal recessive.

It typically has its onset between the ages of 6 and 20 years.

 Initial symptoms include decreased visual acuity and may progress to decreased  night vision 
(in advanced cases).

Diagnosis

In the initial stages the diagnosis may be difficult to make as the macula may appear normal.  
This is followed by variable degrees of atrophy of the pigment epithelium in the macula that 
eventually lead to the “bull’s eye” appearance.

      It is characterized by focal accumulation of lipofuscin  in the RPE in the form of “fish-like”
 yellow flecks seen in about 50% of cases.  These may be localized to the macula or scattered 
throughout the posterior pole. They tend to change with time, with some disappearing and new 
ones appearing.

  Fluorescein angiography:

-         It typically shows areas of window defect-like hyperfluorescence in the macula where there are 
typically pigmentary changes such as the “bull’s eye configuration.”

-         Hyperfluorescent fleck spots may appear as well and may not necessarily correspond to the fleck
 lesions seen on clinical exam.

-         Another important angiographic finding is the uniform decrease in the choroidal fluorescence.  
This results from diffuse accumulation of lipofuscin in the entire RPE cell layers which will partially 
block the normal choroidal fluorescence.  This is referred to as “silent choroid” and is seen in 
85% of cases.  In some cases, choroidal neovascularization may develop.

  Electrophysiologic testing:

Shows both a normal ERG and EOG and helps differentiating this condition from others such as 
cone dystrophy. Later in the course of the disease the ERG may be mildly to moderately affected.

Prognosis:

  The visual prognosis is generally poor. Most patients have a visual acuity of 20/200 or worse 
by age 40.

Treatment:

There is no known treatment. Periodic monitoring, genetic counseling and support for low vision.