Peripapillary atrophy in Stargardt disease.
OBJECTIVE
To demonstrate that Stargardt disease (STGD) can present with peripapillary atrophy.


METHODS
Retrospective case series. The medical records of 150 consecutive patients (300 eyes) were reviewed retrospectively from a STGD database from January 1999 to May 2007 at Columbia University's Harkness Eye Institute. STGD patients demonstrating peripapillary atrophy were identified.


RESULTS
Three of 150 cases of STGD (2.0%) demonstrated peripapillary atrophy. Case 1 revealed peripapillary and central atrophy with heterozygous ABCA4 mutations P1380L and IVS40 + 5G>A. Case 2 demonstrated atrophic fleck lesions involving the peripapillary region and central atrophy with homozygous ABCA4 mutations P1380L and P1380L. Case 3 revealed bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions with ABCA4 mutations P1380L and R2030Q. Overall, ABCA4 mutation P1380L was noted in 13 cases (8.7%), IVS40 + 5G>A in 6 cases (4.0%), and R2030Q in 1 case (0.7%). The remaining cases shared one common STGD mutation with Case 1, 2, and 3 (P1380L or IVS40 + 5G>A) and demonstrated classic STGD findings of central atrophy and varying presence of peripheral flecks without peripapillary lesions.


CONCLUSIONS
STGD can present with peripapillary atrophy. This relatively uncommon phenotype may arise from specific combinations of STGD ABCA4 mutations rather than single mutations.
Hwang
John C
JC
Department of Ophthalmology, Columbia University, New York, New York 10032, USA.
Zernant
Jana
J
Allikmets
Rando
R
Barile
Gaetano R
GR
Chang
Stanley
S
Smith
R Theodore
RT
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009896:Optic Atrophy / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters