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Optical Coherence Tomography of
Bilateral Posterior Microphthalmos
With Papillomacular Fold and Novel
Features of Retinoschisis and Dialysis
Joshua W. Kim, MD, David A. Boes, MD, and
James L. Kinyoun, MD
PURPOSE: To report a case of retinoschisis and dialysis
associated with bilateral posterior microphthalmos and
papillomacular fold.
DESIGN: Observational case series.
METHODS: Complete ophthalmologic examination of three
of five siblings presenting with bilateral posterior microphthalmos and papillomacular fold. Optical coherence
tomography (OCT) data are presented to confirm the
abnormal anatomy.
RESULTS: All subjects have bilateral elevated horizontal
papillomacular retinal fold with cystoid macular edema
and shallow subretinal fluid. Optical coherence tomography was consistent with our examinations. One subject,
a 13-year-old Hispanic, initially presented with retinoschisis in the superotemporal quadrant of the left retina
that developed 9 years later into a retinal dialysis without
subretinal fluid. The right eye of this same patient
developed retinoschisis in the far superotemporal retinal
periphery during 9 years of observation.
CONCLUSION: Retinoschisis and dialysis may occur in
patients with posterior microphthalmos with papillomacular fold. Optical coherence tomography may be
helpful in assessing these patients. (Am J Ophthalmol
2004;138:480 – 481. © 2004 by Elsevier Inc. All rights
reserved.)
M
FIGURE 1. Fundus photography of the left eye of Patient 1
who has bilateral posterior microphthalmos with papillomacular
fold. Note the horizontal papillomacular fold in the center of
the macula and cystoid macular edema.
We present three siblings of a consanguineous relationship with posterior microphthalmos and papillomacular
fold. The first patient is a 13-year-old Hispanic boy that
was referred for decreased vision. Family history reveals an
autosomal recessive mode of inheritance. Best-corrected
visual acuity was 20/200 in both eyes (OU). Ocular
motility was full and orthophoric. Pupils were equally
reactive to light and accommodation and no afferent
pupillary defect was present. Stereo acuity testing (1/3
Animal Test) and color vision [2/14 Ishihara color plates
in the right eye (OD) and 4/14 plates in the left eye (OS)]
were reduced. Examination revealed high hyperopia (cycloplegic refraction ⫹20.75 sphere OD and ⫹14.75 sphere
OS) with reduced TAL (15.35 mm OD and 14.82 mm OS)
and normal corneal diameters (12.5 mm OU). The intraocular pressures (12 mm Hg OU), anterior slit-lamp
examination, and keratometry were also normal.
The posterior segment examination revealed bilateral
elevated horizontal papillomacular retinal fold with cystoid
macular edema and shallow subretinal fluid in the macula
(Figure 1). Optical coherence tomography was consistent
with the clinical examination (Figure 2).
The patient initially presented with retinoschisis in the
superotemporal quadrant OS that had developed 9 years
later into a retinal dialysis without subretinal fluid. The
OD developed retinoschisis in the superotemporal retinal
periphery during the 9 years of observation. Management
of the retinal dialysis presently is patient education for
signs and symptoms of retinal detachment as well as
periodic reexamination. Fluorescein angiography during
follow-up examination showed reduction in size of the
capillary-free zone without leakage into the macular microcystoid spaces.
The two younger siblings had similar presentations of
high hyperopia (⫹13.50 to ⫹16.00 sphere) with reduced
TAL (15.01 to 15.35 mm) and normal corneal diameters.
ICROPHTHALMOS IS A DEVELOPMENTAL ARREST OF
ocular growth, defined as total axial length (TAL) at
least 2 standard deviations below age-similar controls. The
TAL is reduced because of the stunted growth of the
anterior or posterior segment of the eye, or both segments.
Microphthalmos has been classified into simple/pure (absence of major ocular malformations) and complex (with
ocular abnormalities).1 Posterior microphthalmos is a rare
subset of microphthalmos that describes a reduced TAL in
the setting of a normal corneal diameter, resulting in high
hyperopia and a papillomacular retinal fold.1–3 This differs
from nanophthalmos, which is described as eyes with
microphthalmos, microcornea, and a tendency toward
uveal effusions.1,2
Accepted for publication Mar 15, 2004.
From the Department of Ophthalmology, University of Washington,
Seattle, Washington (J.W.K., J.L.K.); and Great Falls Clinic, Great Falls,
Montana (D.A.B.).
Supported in part by an unrestricted grant from Research to Prevent
Blindness, Inc., New York, New York.
Inquiries to James L. Kinyoun, MD, University of Washington,
Ophthalmology, Box 356485, Seattle, WA 98195– 6485.
480
AMERICAN JOURNAL
OF
OPHTHALMOLOGY
SEPTEMBER 2004
intraocular pressure in the development of the chick eye.
Invest Ophthalmol 1963;2:83–89.
Prevalence of Factor XIII Val34Leu
Polymorphism in Patients Affected by
Spontaneous Subconjunctival
Hemorrhage
FIGURE 2. Vertical optical coherence tomography scan of the
right macula of Patient 3 with bilateral posterior microphthalmos and papillomacular fold. Note the fold where only the
neurosensory retina is redundant, cystoid macular edema, and
subretinal fluid.
Posterior segment examination and OCT data were similar
to that of the older brother. The peripheral examinations
of the two siblings were normal except for bilateral
peripheral cystoid retinal degeneration in one of the
siblings.
The retinoschisis that progressed to dialysis may elucidate another mechanism of dialysis formation other than
blunt trauma because of avulsion of the vitreous base. Most
dialyses are unlikely related to retinoschisis; however, some
dialyses result from breaks that develop at the ora serrata in
both layers of the schisis.4 Further examinations of the OD
in Patient 1 to determine whether a dialysis develops in
the peripheral retinoschisis may help support this theory.
The OCT data showing only neurosensory folding
solidify present knowledge that only this layer is redundant.2,3 Experimentally, when a drainage tube is introduced through the chick eye wall (reducing tensile forces
created by the expanding vitreous body), the neural retina
grows independently and is thrown into folds whereas the
retinal pigment epithelium remains unfolded and has an
area appropriate to the size of the microphthalmic eye.5 It
is conceivable that the retinal folds could be “ironed out”
with a liquid heavier than water such as perfluorocarbon,
because only the neurosensory retina is affected.
REFERENCES
1. Weiss AH, Kousseff BG, Ross EA, Longbottom J. Simple
microphthalmos. Arch Ophthalmol 1989;107:1625–1630.
2. Khairallah M, Messaoud R, Zaouali S, Yahia SB, Ladjimi A,
Jenzri S. Posterior segment changes associated with posterior
microphthalmos. Ophthalmology 2002;109:569 –574.
3. Spitznas M, Gerke E, Bateman JB. Hereditary posterior microphthalmos with papillomacular fold and high hyperopia.
Arch Ophthalmol 1983;101:413–417.
4. Hirose T. Retinoschisis. In: Albert DM, Jakobiec FA, editors.
Principles and practice of ophthalmology. Philadelphia: W. B.
Saunders Company, 2000:2335–2342.
5. Coulombre AJ, Steinberg SN, Coulombre JL. The role of
VOL. 138, NO. 3
Francesco Parmeggiani, MD,
Ciro Costagliola, MD, Carlo Incorvaia, MD,
Donato Gemmati, BS, Sergio D’Angelo, MD,
Silvia Tognazzo, BS, Gian Luigi Scapoli, MD, and
Adolfo Sebastiani, MD
PURPOSE: To verify the prevalence of Val34Leu polymorphism in factor XIII A-chain gene (FXIII Val34Leu) in
patients with spontaneous subconjunctival hemorrhage
(SCH).
DESIGN: Nonrandomized case-control study.
METHODS: One hundred seven white patients suffering
from one or more episodes of idiopathic SCH and 107
healthy subjects were matched for age and gender, and
genotyped for FXIII Val34Leu. Anamnestic, ophthalmologic, cardiovascular, and serologic examinations were
performed.
RESULTS: Frequency of FXIII mutated allele (Leu34) was
significantly higher in SCH patients than in controls.
Computing together heterozygotes (Val/Leu) and homozygotes (Leu/Leu), genotype distribution was statistically different. In a conditional logistic regression model,
the comparison of the three separated genotypes, performed among 25 patients with recurrent idiopathic
SCHs and controls, gave significant differences for both
Val/Leu and Leu/Leu variables.
CONCLUSION: Both homozygosity and heterozygosity for
FXIII Val34Leu predispose to idiopathic SCH, emphasizing the role of Leu34 allele as inherited risk factor for
spontaneous, especially recurrent, SCHs. (Am J Ophthalmol 2004;138:481– 484. © 2004 by Elsevier Inc.
All rights reserved.)
B
LOOD COAGULATION FACTOR XIII (FXIII) IS CRUCIALLY
involved in the final steps of coagulation and in
fibrinolysis.1 In 1994, a G to T point mutation in codon 34
of exon 2 in the FXIIIA-subunit gene was described.2 FXIII
Accepted for publication Mar 17, 2004.
From the Department of Ophthalmology, University of Ferrara, Ferrara, Italy (F.P., C.C., C.I., S.D.A., A.S.); and Department of Biomedical
Sciences and Advanced Therapies, Center for the Study of Hemostasis
and Thrombosis, University of Ferrara, Ferrara, Italy (D.G., S.T., G.L.S.).
Inquiries to Francesco Parmeggiani, MD, Sezione di Clinica Oculistica,
Dipartimento di Discipline Medico-Chirurgiche della Comunicazione e
del Comportamento, Università Studi di Ferrara, Corso Giovecca 203,
44100 Ferrara, Italy; fax: (⫹39) 532 247365; e-mail: f.parmeggiani@
tiscali.it or [email protected]
BRIEF REPORTS
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