diagnostyka

diagnostics
Artykuł przeglądowy review article
DOI: 10.24292/01.OT.310322.2

Myopia differential diagnosis

Katarzyna Perz-Juszczyszyn
Department of Optometry, Sub-Faculty of Eye Disease and Optometry, Medical University in Poznan
Head: prof. Marcin Stopa, PhD, MD

Highlights Abstract
It is important to properly Due to the prevalence and the possibility of myopia progression, myopia is cur-
classify myopia, know its rently of particular interest to many specialists in both the field of optometry
connections with complex and ophthalmology. In the initial diagnosis of the patient, it is important to de-
syndromes, detect it as early as termine whether the refractive error is isolated or if it coexists with other eye
possible, correct it properly. disorders/diseases or general health problems. This refractive error can be di-
vided into axial and refractive myopia. In the latter case, the change in refraction
may result from too great curvature of the cornea in relation to the length of the
eyeball, or an increase in the optical curvatures other than the anterior surface
of the cornea, or an increase in the refractive index of at least one of the optical
structures, or a shallower anterior chamber of the eye. It is also worth distin-
guishing myopia associated with complex syndromes.
Uncorrected myopia can significantly hinder daily functioning. It is therefore
important to detect it as early as possible, correct it properly.

Key words: myopia, differentia diagnosis, axial myopia, refractive myopia

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 Myopia differential diagnosis
K. Perz-Juszczyszyn

Introduction be mentioned that certain patients will show increased

Refractive errors are due to the biological diversity of the axal lengths as they age. Risk factors for onset and progres-
general population while the key factor for refractive state is sion of axial myopia are, among others, genetic (including
the relationship between the optical power of the eye and its ethnicity), environmental (including sustained accommo-
axial length. Moreover, there are several other factors, both dative effort during near work) and retinal defocus due to
external and genetic, potentially contributing to the occur- undercorrected refractive error. A higher risk of myopia
rence and development of refractive errors, including con- progression is related to earlier onset and baseline refrac-
comitant ocular pathologies and systemic diseases [1–4]. tive error [9].
Currently, among other refractive errors, myopia is raising Axial lengths which exceed 26 mm and refractive errors
the highest concern. Due to high incidence, over the last over -6.00 D are considered cases of high myopia which af-
years eye care specialists have been searching for the most fects 2% of Western Europeans and North Americans and
efficient strategy of slowing down myopia progression. Sat- even up to 10% of East Asians. Excessive and progressive
isfactory effect against its progression has been observed axial elongation is termed “degenerative myopia” and may
for ortho-K lenses and 0.01% atropine [5, 6]. A technologi- lead to degenerative changes caused by abnormal stretch-
cal novelty designed to correct and slow down myopia pro- ing of the ocular tissues, such as:
gression is the MiyoSmart spectacle lens. It has prescription • RPE thinning with major choroidal vessels becoming
power distributed all over the surface with a central treat- noticeable
ment zone incorporating the DIMS (defocus incorporated • focal areas of choroido-retinal atrophy
multiple segments) technology [7]. • changes in the optic disc and the peri-papillary region
In each case of myopia, it seems reasonable to establish • lattice degeneration
whether it is as a standalone refractive error or a conse- • lacquer cracks (within the RPE/Bruch’s membrane/
quence of other ocular disorders and/or general diseases. choriocapillaris complex)
Additionally, it should be taken into consideration that cer- • subretinal hemorrhages
tain ocular and general diseases are related to higher inci- • Fuchs spot
dence of myopia. • posterior staphyloma
Myopia is a complex disorder, which is reflected by a wide • rhegmatogenous retinal detachment
variety of classification systems, which include refractive er- • choroidal neovascularization (CNV)
ror, patient’s age at onset, potential progression over time as • macular schisis
well as its relations to biometric and refractive characteris- • peripapillary detachment
tics of the eye [2, 8]. • cataract
In the process of differential diagnostics, it is reasonable to • glaucoma
adopt certain criteria to classify the disorder as: • amblyopia
1. axial myopia • lens subluxation [10].
2. refractive myopia:
a. curvature-related myopia, i.e. resulting from exces- Increased axial length may be secondary and induced by
sive corneal curvature as compared to axial length compression from rings implanted during certain surgical
b. curvature-related myopia, i.e. being a consequence procedures used to treat retinal detachment.
of increased refractive curvatures in the optical sys- Excessive eye growth is also related to congenital connective
tem (other than corneal surface curvature) tissue disorders characterized by genetically conditioned
c. myopia related to increased refractive index of at impairments of structural protein biosynthesis and/or me-
least one refractive structure of the eye tabolism [11]. Therefore, the risk of myopia onset and pro-
d. anterior chamber myopia due to shallowing of the gression affects patients with Ehlers-Danlos syndrome who
anterior chamber. exhibit excessive connective tissue tensility and a molecular
defect of type III collagen synthesis. Mafran syndrome of-
Differential diagnosis should also include the characteristics ten leads to severe ocular symptoms, including high myopia
of myopia: stable, progressive or transient. It should also be resulting in complications such as lattice degeneration and
mentioned that myopia may be related to complex disease retinal detachment. The syndrome is a hereditary connec-
syndromes [2]. tive tissue disease manifested as structural and functional
changes of fibrillin 1, i.e. a glycoprotein essential for the
formation of microfibrils. Due to a significant number of
Axial myopia potential genetic defects of fibrillin-coding gene, Marfan
Based on the Gullstrand eye model, it may be assumed that syndrome is characterized by diverse clinical manifestations
the average axial length of the eye is 24.4 mm. It should [12, 13].

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Refractive myopia Myopia resulting from increased refractive index of the

This type of myopia occurs as a result of excessive power crystalline lens
of the optical system, as compared to the eye’s axial length. An crucial factor for the eye’s refractive state are the re-
The causes of this condition may vary. fractive indexes of individual structures forming its optical
system which, in turn, depends on their curvatures and in-
Myopia resulting from excessive corneal curvature dexes of the optical media.
Curvature-related myopia occurs due to excessive corneal Due to the aging process, the nucleus of the crystalline
curvature while the axial length remains at physiologically lens becomes stiffer but also accumulates larger quantities
normal levels. It may constitute a variation of refractive er- of urochromatic pigment, which causes lens discoloration
ror without any other concomitant abnormalities. (initially to amber and subsequently to brown). The process
Its incidence is particularly high among preterm infants. In influences the refractive index of the lens, causes a myopic
prematurity, the causes of myopia include a combination of refractive shift and increases spherical aberrations. Con-
steep corneal curvature and low axial length [14]. What is sequentially, certain senior patients become able to read
more, in this population cases of severe retinopathy of pre- at near without spectacle prescription. Nuclear cataract,
maturity may lead to fibrosis retrolentalis i.e. the growth which has a similar manifestation, may also be secondary
of a fibrotic masses posterior to the crystalline lens which to hypoactivity of parathyroid glands [13].
start pushing the lens-iris diaphragm in the anterior direc- The underlying causes of altered refractive index of the
tion. Consequently, an exacerbated myopic refractive shift crystalline lens also include systemic diseases. The most
will occur with potential risk of glaucoma. prevalent problem in the ageing population is diabetes. It
is a chronic metabolic disease characterized by hyperglyce-
Myopia caused by ciliary muscle contracture mia, resulting from impaired insulin production and/or cell
The optical power of the eye may also increase as a con- resistance to insulin, with characteristic long-term compli-
sequence of ciliary muscle contracture which is usually cations such as micro and macroangiopathy. Uncontrolled
secondary to permanent and excessive stimulation of the diabetes and fluctuating blood glucose levels are associated
parasympathetic system. In such cases, underlying severe with unstable and transient refractive changes. Myopic re-
systemic pathologies are rare and the causes of accommo- fractive fluctuations are related to hypoglycemia which re-
dative effort include the following: sults in transitional increase in hydration of the crystalline
• excessive stimulation of accommodation, which is usu- lens and consequently causes an increment of its refractive
ally associated with prolonged near work, systemic in- index. The refractive changes, amounting to several diop-
fections, or psychogenic factors ters, may be the initial symptoms of undiagnosed diabetes.
• empty space myopia/nocturnal myopia (noticeable in Subsequently, refraction stabilizes within approximately
certain cases) due to sustained accommodative effort in one week from the initiation of treatment since a normal
dim light or when no accommodative stimulus is pres- blood glucose level is reached [17, 18].
ent, which amounts to approx. -1.00 D Increased refractive index of the crystalline lens may also
• excessive accommodative convergence which may be be observed in the following cases:
induce in order to maintain fusion in cases of exophoria • pregnancy induced hypertension manifested as blood
with fusional convergence insufficiency hypertension, proteinuria, and generalized oedema
• spasm of the near reflex (SNR) co-occurring with a dif- • dysentery, with etiology including bacterial (Shigella)
fused reflex involving accommodative effort, conver- infection, which causes fever co-occuring with abdomi-
gence excess, and pupil constriction nal pain, vomiting, and bloody diarrhea
• sympathetic paresis resulting in non-physiological dom- • malaria, a common contagious disease caused by Plas-
inance of the parasympathetic system at distance, e.g. in modium infection, typically characterized by fever, ane-
patients with Horner’s syndrome and in certain cases of mia and headaches but also severe water and electrolyte
migraine imbalance [13, 15].
• brain tumors
• Myasthenia gravis Anterior chamber myopia
• myotic medication intake (carbachol, physostigmine, In certain cases, both the axial length and the optical power
neostigmine, demecarium) of the eye, being the sum of individual contributors in the
• fly agaric (Amanita muscaria) poisoning which causes optical system, remain within normal physiological limits.
the so-called mykoatropine syndrome manifested as pu- However, the mutual relations between the optical struc-
pil dilation, inhibition of exocrine gland secretion, im- tures may reduce the depth of the anterior chamber and,
paired body temperature regulation, erethism, anxiety, consequently, cause a myopic refractive shift. The above
hallucinations, and other psychotic symptoms [15, 16]. condition may occur in cases of ocular trauma with ante-

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K. Perz-Juszczyszyn

rior dislocation of the crystalline lens as well as primary pigmentation, pigment depletion in the fundus with visible
congenital glaucoma (often associated with developmental choroidal vessels, decreased number of cross-linked fibers
disorders affecting the filtration angle), childhood glauco- in the chiasm, strabismus, and refractive errors including
ma and juvenile glaucoma. myopia [10, 13].
Some authors also reported cases of myopia onset in- Gyrate atrophy of the retina and choroid is a metabolic
duced by intake of certain medications, which was proba- disease caused by mutation of the OAT gene which encodes
bly caused by increased curvature of the refractive surface ornithine aminotransferase, i.e. the enzyme necessary to
of the lens due to ciliary body oedema. Thus, the relation metabolize ornithine. The mutation leads to increased lev-
between the axial length and the optical power of the eye els of ornithine in plasma, urine, cerebro-spinal fluid, and
became abnormal [15]. aqueous humor. The clinical manifestation includes round
Some children may manifest myopia due to underlying areas of choroid atrophy which gradually become conflu-
contagious childhood diseases such as rubella, varicella, ent and progress from the periphery towards the posterior
measles and pertussis. However, the etiology of refractive pole. However, the foveal area remains unaffected for a rel-
error in such cases remains unclear [19]. atively long time. It is associated with myopia, nyctalopia
and, in the long term, a significant decrease of visual acuity
to the level of legal blindness between the 4th and 6th decade
Hereditary myopia of life, which is due to geographical atrophy of the retina
Certain cases of myopia may have hereditary etiology but and choroid [10].
the models of inheritance may vary. Hereditary myopia is Down’s syndrome is a genetic disorder caused by the pres-
often associated with impaired development of the ocular ence of a third copy of chromosome 21 and associated with
structures such as microphthalmia, microcornea, pupil- several characteristic morphological features and mental
lary displacement, nyctalopia, and achromatopsia. It may retardation. Also, it is commonly associated with ocular
be potentially related to underlying systemic diseases such abnormalities such as upslanting palpebral fissures, chronic
as cochlear deafness or epiphysis dysplasia. Genetically he- blepharitis, ectropion, epicanthal folds, strabismus, nystag-
reditary myopias include: mus, and lens opacification (blue spots). Patients also show
• autosomal recessive (AR) cochlear deafness with myo- predispositions to keratoconus, iris hypoplasia and refrac-
pia and mental impairment; tive errors, including myopia [10, 12].
• AR dysplasia of femur head epiphysis with myopia and Fetal alcohol syndrome (FAS) affects children who, dur-
deafness ing the fetal growth, were exposed to large doses of alcohol
• autosomal dominant (AD) multifocal epiphysis dyspla- consumed by the mother. Several developmental disorders
sia with myopia and conductive deafness occur due to the toxic effect of alcohol and become notice-
• AD microcornea with myopia and cataract able in the facial morphology. These include flattened face,
• AD microphthalmos with myopia and pupillary dis- small head circumference, short nose with low nasal bridge,
placement ear lobe malformations with low position of the ears, and
• AR or AD, or X-linked myopia micrognathia. The negative impact of alcohol is particu-
• X-linked nyctalopia and myopia larly noticeable in the nervous system leading to a signifi-
• AR nyctalopia with high myopia cantly reduced intellectual potential in children with FAS.
• AR achromatopsia with myopia (Pingelopese blind- Moreover, common visual system abnormalities include
ness) [15]. short palpebral fissures, epicanthal folds, hypertelorism,
iris coloboma, strabismus, ptosis microphthalmia, struc-
tural abnormalities of the fundus, and increased risk of my-
Disease syndromes related to myopia opia [20].
There is a long list of various disease syndromes in which Marfan syndrome and Ehlers-Danlos syndrome mentioned
myopia is an element of the clinical manifestation. above also show characteristic relations to myopia. Howev-
Albinism is a genetically conditioned heterogenous group er, myopia is described as a component of several less com-
of disorders affecting melanin synthesis and caused by de- mon complex disease syndromes and disease, including:
ficiency or depletion of tyrosinase, which serves as a cata- • Aberfeld syndrome
lyzer in tyrosine to melanin conversion. Ocular symptoms • Alport syndrome
are present only in cases of ocular albinism while oculocu- • Bloch-Sulzberg syndrome
taneous albinism causes ocular and skin symptoms. Tyrosi- • Cri du Chat syndrome
nase-negative albinism is manifested by particularly poor • Cornelia de Lange syndrome
visual acuity due to hypoplasia of the fovea, horizontal pen- • Cohen syndrome
dular nystagmus, iris transillumination caused by lack of • Aland syndrome

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K. Perz-Juszczyszyn

• Kartagener syndrome Conclusion

• Ito syndrome Nowadays, myopia is a common refractive error which, if
• Kniest syndrome uncorrected, may lead to significant impairment of everyday
• Marshall-Smith syndrome functioning. Therefore, it is important to diagnose myopia
• Noonan syndrome as early as possible, prescribe appropriate vision correction
• Pierre Robin syndrome. and plan patient management based on methods which help
slow down its progression A wider perspective on myopia
and its potential relations with other visual system disorders
and/or general diseases may be helpful in practice and con-
tribute to a more efficient workflow thus bringing addition-
al benefits to patients.

Correspondence
Katarzyna Perz-Juszczyszyn
Department of Optometry, Sub-Faculty of Eye Disease and
Optometry, Medical University in Poznan
60-806 Poznań, ul. Rokietnicka 5D ORCID
e-mail: [email protected] Katarzyna Perz-Juszczyszyn – ID – https://orcid.org/0000-0001-7877-0871

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Conflict of interest:
None.
Financial support:
None.
Ethics:
The content presented in the article complies with the principles of the Helsinki
Declaration, EU directives and harmonized requirements for biomedical journals.

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