Download Raeisian, A

Armina Raeisian, OD
Residency in Community Health Optometry
The Dimock Center
Abstract Outline
I.
Case History
a. Patient demographics: 38 year-old Hispanic male presents using a white cane
b. Chief complaint: lost his glasses one year ago and would like new glasses to improve
with near vision
c. Ocular, medical history: Per patient, he has had a disease since birth that could make
him blind. He has been working with the Massachusetts Commission for the Blind and
has used a white cane for two years. Patient denies any treatment, surgeries, or
injections. Medical history is remarkable for bipolar disorder and diet-control
hyperlipidemia.
d. Medications: Zoloft, no known drug allergies
e. Other salient information: Patient holds smart phone very close to eyes to text during
case history.
II. Pertinent findings
a. Clinical
i. Unaided Visual Acuities: using Feinbloom
OD: 6/200 (Snellen equivalent 20/667)
OS: 6/300 (Snellen equivalent 20/1000)
ii. Best-Corrected Visual Acuities: Objective measures only
OD: 6/200 with -5.75-3.25x180 (retinoscopy)
OS: 6/300 with -6.25-3.00x020 (retinoscopy)
iii. Dilated fundus exam findings remarkable
1. ONH rims: trace temporal pallor with distinct rims OD and OS
2. Macula: Beaten bronze appearance OD and OS
3. Background: Dense yellow flecks scattered throughout posterior pole
OS>OD (photos taken)
4. Periphery:
OD: Row of pigment hypertrophy with questionable schisis
adjacent temporally
OS: Row of pigment hypertrophy with questionable schisis
adjacent temporally
b. Spectral-Domain OCT of macula
1. Central macular thickness
a. OD 157 microns
b. OS 155 microns
2. Multiple hyperreflective foci located on the inner wall of RPE and in the
outer nuclear layer OD and OS
III. Differential diagnosis
a. Age-related macular degeneration – not consistent with the patient’s age and reported
disease duration
b. Dominant drusen – not consistent with location of deposits and patient’s BCVA
c. Fundus albipunctatus – not consistent with BCVA
d. Chloroquine/hydroxychloroquine maculopathy – not consistent with patient’s reported
medications
IV. Diagnosis and Discussion – Stargardt Disease
a. Inherited retinal dystrophy characterized by the presence of yellow-white flecks located
in the outer retina of the posterior pole1
b. The macula can appear atrophic and there can be loss of macular function secondary to
high levels of lipofuscin accumulation in the retinal pigment epithelium. 2
c. Visual acuity can range from 20/30 to 20/200 or worse later in the disease2
d. SD-OCT is a helpful tool to monitor disease progression by imaging hyperreflective foci
located in the outer retina and by providing a means to measure and monitor the
decreasing macular thickness that is expected with the disease.
i. An increase number of hyperreflective foci visible on SD-OCT and a decreasing
macular thickness as measured by SD-OCT have both been found to be
correlated to the worsening of the patient’s vision, both subjectively and
objectively. 3
V. Treatment, management
a. This patient has been registered with The Massachusetts Commission for the Blind by
his previous optometrist.
b. The typical accepted treatment plan for a patient with this condition is a supportive one.
Since the disease is progressive and may begin only with mild symptoms, as this patient
likely experienced many years ago, counseling and education are key to preparing the
patient and developing necessary skills to adapt effectively. This patient was referred to
a low vision specialist for further evaluation and counseling.
c. Patients should be registered with any government-funded organizations if they are
visually impaired or legally blind.
d. Patients should be appropriately referred for a low vision evaluation, if applicable. If not
applicable, patients should be educated on this option in the future and made aware of
the services available.
e. Future treatment options – There have been promising results in a recent phase ½ study
which transplanted human embryonic stem cell derived retinal pigment epithelium cells
into 9 eyes diagnosed with Stargardts disease. Results showed a median improved visual
acuity of 15 letters at 6 months in treated eyes that did not develop cataracts. Given
that this is a small sample size (n=5). These preliminary results are encouraging but
approval and implementation of this treatment method is still far in the future.4
f. Bibliography:
1. Ehlers, Justis P., and Chirag P. Shah. "Chapter 11: Retina." The Wills Eye
Manual: Office and Emergency Room Diagnosis and Treatment of Eye
Disease. Philadelphia: Lippincott Williams & Wilkins, 2008. 274-309.
Print.
2. Abdollahi S, Hirose T, Stargardt-fundus flavimaculatus: recent
advancements and treatment. Seminars in Ophthalmology, 2013; 28(56: 372-376.
3. Piri N, Nesmith B, Schaal S. Choroidal hyperreflective foci in Stargardt
disease shown by Spectral-Domain Optical Coherence Tomography
imaging. JAMA Ophthalmology 2015; 133(4);398-405.
4. Schwartz S, Regillo C. Human embryonic stem cell-derived retinal
pigment epithelium in patients with age-related macular degeneration
and Stargardt’s macular dystrophy: follow-up of two open-label phase ½
studies. Lancet 2015;385: 509-16.
VI. Conclusion
a. Though the onset of Stargardt’s disease is in early childhood, an adult patient may
present with advanced Stargardt’s which began in early childhood. For this reason, a
diagnosis of Stargardt’s disease should still be considered in adult patients.