Download Resolution of Mid-Peripheral Intraretinal Fluid in X

Resolution of Mid-Peripheral Intraretinal Fluid in X-Linked Retinoschisis with
Use of Dorzolamide 2%
Frederick T. Collison1, Gerald A. Fishman1,2
1 The Pangere Center for Hereditary Retinal Diseases, The Chicago Lighthouse for People who are Blind or Visually Impaired, Chicago, IL, USA.
2 Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA.
INTRODUCTION
X-linked retinoschisis (XLRS) is an early-onset hereditary retinal
dystrophy caused by mutation(s) of the retinoschisin (RS1) gene1 In
the first few decades of life, the layers of the macula are split and
central visual acuity is decreased. In the fourth or fifth decades, the
macular schisis may be replaced by an atrophic-appearing lesion
accompanied by further visual acuity loss. Clinically detectable
peripheral retinoschisis, most commonly observed bilaterally in the
inferior-temporal retina, is often found in XLRS.
RIGHT EYE
a. Baseline right eye macula
LEFT EYE
a. Baseline left eye macula
Topical carbonic anhydrase inhibitors have been found to reduce the
intraretinal fluid in the majority of XLRS patients with macular cysts.2
In the current case report, we present a patient diagnosed with XLRS
with intraretinal cysts in both the macula and the mid-peripheral retina,
which resolved not only in the macula, but also in the mid-peripheral
retina, with the use of topical dorzolamide 2% ophthalmic suspension.
b. Follow-up right eye macula
CASE REPORT
Figure 1. Vertical SD-OCT line scans of the macula OD at baseline, prior to
treatment (a) and after three months on topical ocular dorzolamide 2% tid OU
(b). Intraretinal cysts/splitting are markedly reduced at follow-up in the fovea
and macula out to the vascular arcades.
b. Follow-up left eye macula
Figure 2. Vertical SD-OCT line scans of the macula OS at baseline, prior to
treatment (a) and after three months on topical ocular dorzolamide 2% tid OU
(b). Intraretinal cysts/splitting are markedly reduced at follow-up in the fovea
and macula out to the vascular arcades.
Initial Visit
 A 34-year-old Caucasian male was referred to our clinic with a chief
complaint of long-standing difficulty with distance and near central
vision.
 Best-corrected visual acuity: 20/40-2 OD, OS.
 Color vision (Ishihara) and confrontation visual fields were normal.
 On dilated fundus exam, cystic-appearing lesions in a honeycomb
pattern and some central hypopigmentation were seen in the
macula of each eye.
 Electroretinogram OD showed selective b-wave reduction to a
white single-flash stimulus, under both dark-adapted and lightadapted conditions
 SD-OCT (Heidelberg Spectralis HRA+OCT, Heidelberg, Germany)
showed splitting of retinal layers in both eyes (Figures 1a and 2a),
with a large cyst centrally in the right eye.
 Mid-peripheral SD-OCT line scan of the superior retina
demonstrated intraretinal cysts in both eyes (Figures 3a and 4a).
 The patient was diagnosed with XLRS and prescribed topical
dorzolamide 2% eye drops in both eyes three times a day as a
treatment for the cysts in the macula.
3 Month Follow-up Visit
 The patient was uncertain of any definite visual change.
 Best-corrected visual acuity: 20/40+2 OD, OS.
 Dilated fundus exam still showed slight mottling in the macula, but
no cysts.
 SD-OCT showed a marked reduction in the intraretinal macular
cysts (Figures 1b and 2b) and superior retinal mid-periphery
(Figures 3b and 4b) of each eye.
DISCUSSION
 To our knowledge this is the first report of
a reduction of intraretinal cysts outside the
macula in XLRS with a pharmacologic
treatment. This likely occurs in other
patients with XLRS who have been
treated with carbonic anhydrase inhibitors,
but it remains unappreciated if the midperipheral region is not scanned with SDOCT.
 Treatment with topical dorzolamide can
both reduce macular cysts and improve
visual acuity in patients with XLRS.2
Some patients with XLRS have reduced
sensitivity in the mid-periphery even in the
absence of ophthalmoscopically
detectable peripheral retinoschisis.3 It
remains to be demonstrated whether the
reduction of retinal cysts observed in the
mid-peripheral retina results in a
corresponding improvement in retinal
function.
• Carbonic anhydrase inhibitors may have a
complementary role to gene therapy in
XLRS and other retinal degenerations.
REFERENCES
a. Baseline right eye mid-periphery
b. Follow-up right eye mid-periphery
Figure 3. Vertical SD-OCT line scans of the superior mid-peripheral
retina (about 10° to 40° from foveal center) OD at baseline (a), and after three
months on topical dorzolamide (b). At baseline (a), note splitting of the retina
in the outer nuclear layer (open arrow), inner nuclear layer (red line), and
retinal nerve fiber layer (closed arrow). At follow-up, the splitting is markedly
reduced in both the outer nuclear layer and the inner nuclear layer. The retinal
thickness at the location on the marked by the red bar in the SD-OCT images
is 233 microns at baseline (a) and 207 microns at follow-up (b).
a. Baseline left eye mid-periphery
b. Follow-up left eye mid-periphery
Figure 4. Vertical SD-OCT line scans of the superior mid-peripheral retina
OS at baseline (a), and after three months on topical dorzolamide (b). At
baseline (a), note splitting of retinal layers primarily in the inner nuclear layer.
Braces mark the same retinal location at both visits based on vessel location,
demonstrating resolution of inner nuclear layer splitting. Retinal thicknesses at
the center of the braces measure 232 microns at baseline (a) and 217
microns at follow-up (b).
1. Molday RS, et. al. X-linked juvenile retinoschisis:
Clinical diagnosis, genetic analysis, and
molecular mechanisms. Prog Retin Eye Res.
2012 May;31(3):195-212. Epub 2012 Jan 3.
2. Genead MA, et. al. Efficacy of Sustained Topical
Dorzolamide Therapy for Cystic Macular Lesions
in Patients With X-Linked Retinoschisis. Arch
Ophthalmol. 2010;128(2):190-197
3. Peachey NS, et. al. Psychophysical and
Electroretinographic Findings in X-linked Juvenile
Retinoschisis. Arch Ophthalmol. 1987
Apr;105(4):513-516
SUPPORT
Pangere
Corporation;
Grousbeck
Foundation; Wynn-Gund Foundation;