Yanoff & Duker: Ophthalmology, 3rd ed.

Copyright 2008 Mosby, An Imprint of Elsevier

Chapter 6.28 Degenerative Myopia

Brad J. Baker,
Ronald C. Pruett
Definition: A poorly understood form of excessive axial myopia that can be associated
with potentially blinding complications.
Key features

Progressive global expansion with posterior staphyloma formation and secondary

macular degeneration.
Associated features

Premature cataract formation.

Vitreous synersis.

Rhegmatogenous retinal detachment.

Glaucoma.

Foveal retinoschisis.

INTRODUCTION
Myopia is a common optical aberration. Physiological myopia, by far the most prevalent, is
less than -6D in magnitude and is considered a normal biological variation. Eyes that have
errors greater than -6D are said to have high myopia. A subgroup of high myopes have axial
lengths that fail to stabilize during young adulthood. The pathophysiology of this progressive,
degenerative form of myopia is unknown.

EPIDEMIOLOGY AND PATHOGENESIS

Not all eyes that have myopia greater than -6D progress; nor does every eye that has
progressive myopia develop degenerative complications. The worldwide distribution of those
who have truly degenerative myopia is unknown, but the prevalence of progressive
pathological myopia was surveyed by Fuchs[1] more than 45years ago. Among 15 countries
in the study, progressive myopia was found in 0.3% (Egypt) to 9.6% (Spain) of their
populations. This wide variation implies that there is a genetic influence.
In the multiethnic United States, the prevalence was estimated at 2.1% in a United States
Public Health Service study.[2] Women are affected twice as commonly as men. It is
estimated as the seventh leading cause of blindness in the United States, and its effects
generally occur at an earlier average age than those of diabetic retinopathy and age-related
macular degeneration.

The pathogenesis of myopia in general, and progressive myopia in particular, is unclear, but
both genetics and environment may play a role. [3] [4] The mode of inheritance may be
autosomal dominant, recessive, or X-linked, but it also can appear sporadically. Progressive
myopia occurs commonly in association with Marfans, Ehlers-Danlos, and Sticklers
syndromes.
Sustained accommodation and intraocular pressure (IOP) are suspected to influence axial
elongation in eyes that have decreased scleral resistance, yet no longitudinal studies have
confirmed this.[5] Topical atropine slows the progression of myopia in children, but this may
be via a mechanism independent of accommodation.[6] Further, it appears that at least some
degree of active scleral growth and remodeling appears to be involved in pathological
myopia. Understanding of these and other influences upon development of myopia is still too
fragmentary to permit therapeutic application.

OCULAR MANIFESTATIONS
The more important anatomical and functional abnormalities found in extremely myopic
individuals are listed in Box 6-28-1 .[7]
BOX 6-28-1
OCULAR MANIFESTATIONS OF DEGENERATIVE MYOPIA
ANATOMICAL MANIFESTATIONS
Corneal astigmatism
Deep anterior chamber
Angle iris processes
Zonular dehiscences
Vitreous syneresis
Lattice retinal degeneration
Scleral expansion and thinning
Decreased ocular rigidity
Increased axial length
Posterior staphyloma
Tilted disc
Peripapillary detachment in pathologic myopia
Temporal crescent or halo atrophy
Macular lacquer cracks
Pigment epithelial thinning
Choroidal attenuation
Foveal retinoschisis
FUNCTIONAL MANIFESTATIONS
Image minification

Anisometropic amblyopia
Subnormal visual acuity
Visual field defects
Impaired dark adaptation
Abnormal color discrimination
Patients who have excessive myopia often have strabismus, especially exophoria and
exotropia, and are more likely to develop premature lens opacities. The prevalence of
glaucoma is related to the degree of myopia. Curtin[8] found glaucoma in 3% of eyes with
axial lengths less than 26.5mm, in 11% that had axial lengths in the range 26.533.5mm, and
in 28% of eyes with axial lengths over 33.5mm. Determination of glaucomatous changes are
especially difficult in highly tilted optic discs, with adjacent posterior staphyloma or
peripapillary intrachoroidal cavitation complicating the evaluation of visual field defects.[9]
Also, pigmentary and normal-tension glaucoma occur more frequently in myopes.
Among the other serious complications of progressive myopia are vitreous syneresis and
rhegmatogenous retinal detachment that results from peripheral tears. Such detachments
usually are spontaneous, but they may occur after blunt ocular trauma or subsequent to
cataract surgery, especially when complicated by capsular rupture and vitreous loss.
The abnormality seen in the myope that justifies use of the term degenerative is posterior
staphyloma (ectasia). The progressively myopic eye expands in all its posterior dimensions,
and the formation of an equatorial staphyloma with scleral dehiscence is not uncommon,
especially in the superotemporal quadrant.[10] As the scleral shell expands, the neural retina,
pigment epithelium, and choroid stretch and thin to accommodate the area they cover.[11]
Tissue attenuation causes the fundus to have a pale, tessellated appearance. The pigment
epithelial cells are flattened, and a reduction occurs in the thickness of the choriocapillaris
and in the larger vessel layers and pigment of the choroid. This is evident especially within
the staphyloma itself, where the fundus pallor is exaggerated by the increased visibility of the
underlying sclera.
With time and progression, traction and tension phenomena are observed. The first is a pale,
temporal crescent at the disc as the pigment epithelium and choriocapillaris are retracted from
the discs margin toward the deepest area of the staphyloma. Bruchs membrane is
noncellular and elastic but has a limited capacity to stretch. If its elastic limit is exceeded, the
internal tension is relieved by formation of microdehiscences called lacquer cracks. Acute
lacquer crack formation near the fovea occasionally is signaled by photopsias and
metamorphopsia ( Fig. 6-28-1 ). Defects in the overlying pigment epithelium may appear
punctate, but eventually a linear pattern develops that coincides with the breaks in Bruchs
membrane. Continued break formation results in a reticular pattern that usually is most
obvious in the deepest recess of the staphyloma and portends a guarded prognosis for central
vision.

Fig. 6-28-1 A 28-year-old Caucasian woman experienced a central light flash followed by blurred vision in
her -23.50 D right eye. (A) A subretinal hemorrhage is present in the fovea. (B) A small wishbone-shaped lacquer
crack was observed 13 months later. (C) At 27 months from the original bleed, another such crack was noted along
a temporal extension of the growing lacquer crack pattern. This was asymptomatic and the corrected acuity was
20/60 (6/18).

The lacquer crack defects usually slowly increase in width and grow in number. Other
isolated, round, or irregular pigment epithelial and choriocapillaris defects may develop along
the margin or within the staphyloma. If a choroidal neovascular membrane invades a crack,
an abrupt macular hemorrhage may be produced. Although usually self-limited, the
hyperpigmented fibrovascular scar that evolves (Frster-Fuchs spot) causes a central or
paracentral scotoma. An area of choroidal and pigment epithelial atrophy develops and
surrounds the scar. This extends and coalesces with areas of atrophy that advance from other
lacquer cracks, eventually to produce large geographical areas in which sclera can be seen
through the transparent neural retina. The process is usually bilateral and insidious.
Macular hole formation in extreme myopes may occur, but the exact mechanism is unknown.
Vitreous syneresis and posterior vitreous detachment are more common and occur at an
earlier age among high myopes than among others;[12] usually they are not accompanied by
vitreomacular traction or an epiretinal membrane.

DIAGNOSIS AND ANCILLARY TESTING

Myopes are recognized easily by their poor distance visual acuity that is improved by
negative-power lenses. Degenerative myopia is a diagnosis made when clinical findings and
extreme axial length occur together, as cause and effect.
The need for ancillary diagnostic testing is dictated by the preliminary findings. If a posterior
staphyloma is detected or questioned, A- and B-scan ultrasonography can confirm its
presence. Optical coherence tomography (OCT) can identify peripapillary detachment, also
termed peripapillary intrachoroidal cavitation.[9] OCT also reveals foveal retinoschisis, inner
retinal breaks, and full-thickness macular holes in some eyes with degenerative myopia.
Fluorescein angiography and, in some cases, indocyanine green angiography may
demonstrate more extensive lacquer crack formation than is detected by ophthalmoscopy and
can be used to rule out choroidal neovascularization.

DIFFERENTIAL DIAGNOSIS

The clinician who has taken a careful history and performed a meticulous examination will
have no difficulty in diagnosing progressive myopia. Although patients who have retinitis
pigmentosa are frequently myopic, show secondary cataract and vitreous liquefaction, can
develop macular degeneration, and have peripheral visual field defects, these are easily
distinguished by other findings in most cases. Peripapillary atrophic changes, punched-out
defects in the pigment epithelium, and macular neovascular lesions are seen in ocular
histoplasmosis syndrome, but posterior staphyloma formation does not occur.

SYSTEMIC ASSOCIATIONS
Myopia of different degrees and incidence may be associated with a wide variety of
disorders. Many of these are hereditary and all forms of inheritance are represented. [10] [13] A
selected listing is presented in Box 6-28-2.
BOX 6-28-2
SYSTEMIC ASSOCIATIONS OF DEGENERATIVE MYOPIA
Albinism
Congenital rubella
de Langes syndrome
Downs syndrome
Ehlers-Danlos syndrome
Fetal alcohol syndrome
Gyrate atrophy - hyperornithinemia
Laurence-Moon-Bardet-Biedl syndrome
Marfans syndrome
Pierre Robins syndrome
Sticklers syndrome
Some systemic disorders are diagnosed easily, conditions such as albinism and trisomy 21;
others are subtler. Because the cardiovascular complications of Marfans syndrome and
congenital rubella and the disabilities associated with Ehlers-Danlos and Sticklers
syndromes may produce morbidity and even mortality, prompt referral to medical and
surgical colleagues is indicated.

PATHOLOGY
Typically, the extremely myopic eye is enlarged in all its posterior dimensions, but
particularly in its axial length. Anteriorly, the cornea may be slightly thinner and flatter than
normal, with a deeper anterior chamber, and the angle recess shows iris processes attached to
the trabeculum. The lens has a tendency to show early nuclear sclerosis. Defects in the
zonular membrane are common and may present a challenge during cataract surgery.
Generalized scleral thinning is associated with increased scleral elasticity, or decreased ocular
rigidity. Especially when combined with zonular dehiscence, this results in rapid vitreous

fluid egress and global collapse when the eye is opened to atmospheric pressure. Sudden
hypotony can result in a serous or hemorrhagic choroidal detachment during intraocular
surgery. Anatomically, the sclera is not only thin but also has an abnormal constitution. The
electron microscopic findings of Garzino[14] demonstrate that the collagen fibers are of
smaller average diameter, and the fibrils show greater interfibrillar separation.[15]

TREATMENT
The ultimate goal is to prevent myopia progression and posterior staphyloma with its
associated visual loss, but currently no proven method exists by which to accomplish this.
In children, topical atropine can effectively slow enlargement of the myopic eye and the
effect is sustained even after the drug has been withdrawn.[6] If this method is chosen, a
thorough informed consent is required, and sun shielding and filters are advised. The
effectiveness of atropine in eyes genomically destined to become pathologically myopic is
unknown. Other approaches presumed to act via modification of accommodation include the
use of bifocals or progressive lenses, undercorrection of myopia, and part-time spectacle
wear. Clinical trials report contradictory results.[16]
Because highly myopic eyes may have reduced scleral resistance plus a tendency to develop
glaucoma, investigators have postulated that scleral expansion is caused by elevated IOP.[5]
Prssinen[17] found a significant correlation between raised IOP and myopic progression
among boys, but not among girls, while Quinn et al.[5] noted that ocular tension is higher in
children who have myopia than in nonmyopes. Controlled trials of IOP reduction have been
reported. Timolol maleate was employed, all the subjects were children, and the focus was
not on progressive degenerative myopia. Goldschmidts pilot study[18] of 10 children showed
a tendency for the children who had a reduction in IOP to slow in their progression of
myopia, but Jensens 2-year study[19] of 94 children did not prove timolol to be effective.
Additional authors have disputed the cause and effect of IOP on myopia.[20] The possibility
remains that optical and pharmacologic methods, alone or in concert, may be devised to
retard axial elongation.
If advancing myopia in children continues beyond pubertal years, follow-up at least yearly is
indicated. Some of these eyes eventually stabilize as highly myopic but with no posterior
complications. The ongoing evaluation of any peripheral lattice degeneration lesions,
especially in the event of blunt trauma or an acute posterior vitreous separation, is critical.
If staphyloma formation is detected, further caution is warranted. Examinations may reveal
lacquer crack development that is not heralded by a photopsia or blurred central vision. Once
lacquer crack formation or areas of choriocapillary and pigment epithelial atrophy are present
in a young adult, it becomes likely that the central vision will be threatened in time by
advancing atrophy, choroidal neovascularization, or both. The traditional option in the United
States at this stage has been to continue observation, while other ophthalmologists advocate
the use of various tissue extract injections, vasodilators, and scleral reinforcement. Although
the value of reinforcement surgery is unproved, it may have application in selected eyes in
which the disease continues to advance. [21] [22] [23]
Other conservative measures include avoidance of eye rubbing, trauma, Valsalva exertion,
and regular use of anticoagulants such as aspirin (unless required for systemic disease).

Because topical corticosteroids frequently provoke a rise in IOP in the highly myopic eye,
these also should be used with caution and with frequent tension checks.
Myopia-related choroidal neovascularization is a major cause of visual loss, especially when
located in a subfoveal location. Photodynamic therapy (PDT) has shown a statistically
significant reduction in visual loss when compared with a placebo group after 1 year for
subfoveal choroidal neovascularization associated with pathological myopia.[24] The lesion
could be classic or occult on fluorescein angiography if either was at least 50% of the total
area. The median visual acuity following treatment was 20/64+2 in the treatment group and
20/80-2 in the control group, with 77% of treated patients losing fewer than 8 letters
compared with 44% of the placebo group at 12months. The average patient received 3.4
treatments during the study. The 2-year results continued to show a visual benefit, but they
were not statistically significant.[25] Retrospective studies suggest that intravitreal injections
of bevacizumab may provide superior visual outcomes in the short term compared to PDT.
Extrafoveal choroidal neovascularization may also be treated with argon laser
photocoagulation. Confluent argon laser burns of diameter 100200m delivered over 0.2
0.4seconds are most effective. Whether laser treated or allowed to involute spontaneously,
the cicatricial lesion eventually becomes surrounded by a zone of atrophy that slowly
enlarges with time. This atrophy typically is relentless and may progress to compromise the
central vision.
Macular hole formation and the less frequently encountered detachment of the posterior
retina are problems that confront those who care for patients who have degenerative myopia.
Longer axial lengths and the need to modify surgical techniques should be anticipated.
Silicone oil may be required for long-term tamponade and closure, although visual outcomes
may be limited.

COURSE AND OUTCOME

Because the degenerative form of progressive myopia is among the leading causes of legal
blindness is testimony that todays treatment methods do not offer a cure. Affected
individuals cannot share in the optimism of the more numerous patients with low myopia that
the development of keratorefractive techniques will help them, because the fundamental
nature of their disease, axial elongation and posterior staphyloma, is not altered by such
techniques. Hopefully, laboratory and clinical evidence will provide practical methods by
which to reduce the risk of progressive myopia. Meanwhile, the management of degenerative
myopia is that of its complications and the prognosis for patients is guarded.

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