Download outline28103

Abstract: In 1993, Gass published 13 cases with Acute Zonal Occult Outer Retinopathy. We report a
follow-up of 1 of 13 cases 2 decades later. Although AZOOR is occult or invisible, our patient now
appears to have RP.
I.
Case History
a. Patient Demographics
i. 56 year old white female at the present time.
b. Chief Complaint
i. Patient presented for another opinion about vision loss OU that first began in
1986.
ii. Patient was first evaluated, 2 decades ago, because of a blind spot and flashes
of light in right eye.
c. Ocular, Medical History in 1988
i. BCVA: 20/25 OD and 20/20 OS.
ii. No family member has yet to be identified with any related eye disorder.
II. Pertinent Findings in 1988
a. Clinical
i. Fundus exam was essentially normal but several fine pigmentary changes were
noted by one retinal specialist in the far periphery OD.
ii. Visual fields in 1988 revealed a large and dense arcuate scetoma OD with
substantial nasal loss that did no respect the horizontal meridian. MD was
-19 dB OD. Blind spot was noted OS with -6 dB
iii. Fundus exam: Completely normal ophthalmoscopically in the areas
corresponding to the field loss and hence the term “occult” was appropriate.
iv. Color vision was normal in 1988 and ERGs were reduced in amplitude right
greater than left with borderline implicit times.
III. Differential Diagnosis in 1988
a. Her acute onset, a non-contributory battery of tests for systemic disease, blind spots,
reduced vision with photopsia in the right and a reduced ERG convinced Dr. Gass that
she had a disease that would later be reported as AZOOR (Acute Zonal Occult Outer
Retinopathy).
IV. Pertinent Findings in 2009
a. Clinical
i. Fundus exam: Atrophic appearing retina with widespread pigmentary changes
clumping OD greater than OS.
ii. CC vision considerably worse LE over past few years or so with poor side vision
and poor night vision.
iii. Vision essentially useless RE for many years.
iv. VA HM R 20/70 L.
v. No visual field measureable in the right eye and very constricted in the left eye.
vi. SD-OCT: Very thin retina with virtually no evidence of the photoreceptor
integrity line (PIL). Pigment cell migration to blood vessels resulting in increased
visibility of the vessels with bone corpuscle pigment.
V. Differential Diagnosis in 2009
a. AZOOR after 2 decades of progression.
b. RP with unusual early presentation.
VI. Diagnosis and discussion
a. This is perhaps the first case of AZOOR with a 2 decade follow-up and there is little
evidence in the literature that AZOOR can progress and eventually appear to be
Retinitis Pigmentosa (RP)
b. Genetic testing for autosomal dominant RP failed to reveal a defect.
c. However, only about 50% of ADRP patients have a genetic defect that can be detected
at the present time.
d. Without a family history of RP and no genetic confirmation, the diagnosis is likely
AZOOR.
e. It appears that AZOOR can sometimes progress to a fundus appearance identical to RP.
VII. Treatment
a. No proven treatment for AZOOR exists although Imuran has been shown to be
somewhat affective in one published case.
VIII. Conclusion
a. AZOOR, although invisible to ophthalmoscpy in the early stage of vision loss, may exhibit
dramatic progression of retinal involvement and appear like RP decades later.