what-when-how
In Depth Tutorials and Information
Al Gazali reported on OI, optic atrophy, retinopathy and
developmental delay in two siblings of consanguine-
ous parents in 1994; these patients had overlapping fea-
tures with osteoporosis pseudoglioma and had optic
nerve pallor with normal sized nerve heads within 1
year of birth.
58
Chan et al. also reported on one stillborn
male with blue sclerae, numerous fractures and mul-
tiple other systemic problems along with optic nerve
hypoplasia.
11
Optic neuropathies and other neuro-
ophthalmologic disorders including eyelid ptosis, eye
motility disorders or pupil disorders are best evalu-
ated by a neuro-ophthalmologist who can determine
if the condition may be related to OI or other causes.
Nystagmus, the rapid and unconscious movement of
eyes in rhythmic, oscillating or other patterns, has also
been described in some patients with OI and other dis-
orders and is best evaluated by a pediatric or neuro-
ophthalmologist.
detachment (0.2%), retinal or vitreous hemorrhages (0.5%),
“ocular occlusion” (0.2%) and macular degeneration
(0.7%). Those conditions with refractive errors - myopia,
hyperopia, astigmatism and presbyopia - can be treated
by prescribing glasses or contact lenses. Visually signifi-
cant cataracts require surgical treatment for visual reha-
bilitation. Keratoconus can be treated with contact lenses
if mild but may require incisional surgery - including
corneal transplantation - if more severe. Amblyopia (lazy
eye) represents poor development of the neurologic com-
munication between one or both eyes and the brain due
to refractive error, strabismus (poor eye alignment) or
some other condition and requires intervention at an early
age to improve visual development. Amblyopia is typi-
cally treated with some form of eye patching and is best
started before age 10 for successful visual improvement.
Glaucoma, as described previously in OI, requires peri-
odic follow-up with intraocular pressure testing, visual
field testing, optic nerve examinations and possible treat-
ment with pressure lowering drops, laser or incisional
surgery. Floaters may be observed if from vitreous separa-
tion but may require laser, pneumatic retinopexy or inci-
sional surgery if due to retinal tear or retinal detachment.
Retinal venous or arterial occlusion, retinal tears and
detachment, retinal and vitreous hemorrhages and cho-
rioretinitis require periodic evaluations and possibly treat-
ment including intraocular injections, laser or incisional
surgery. In age-related macular degeneration, the interme-
diate to advanced non-neovascular forms may be treated
with Age-Related Eye Disease Study (AREDS) vitamins to
reduce risk of progression and the neovascular forms may
often be treated with anti-VEGF antibodies and photody-
namic therapy. Ptosis, paralysis of the eye and oculomotor
nerve palsy are conditions that require evaluation, often
by a physician with training in neuro-ophthalmology, ocu-
loplastic surgery or strabismus. The differential diagno-
sis for these conditions may be benign or part of various
underlying diseases such as diabetic ischemia, myasthenia
gravis or from a compressive lesion such as a tumor or
aneurysm.
Also concerning in the survey is that 40 patients (10%)
responded with having nonspecific “loss of vision” that
may require further evaluation by an ophthalmologist
or other physician for a more precise diagnosis and for
treatment to prevent further vision loss. If such “loss of
vision” is due to glaucoma, retinal detachment, macular
degeneration or other severe eye disease without proper
understanding by the patient or proper treatment, more
permanent and severe visual loss may result. “Loss of
vision” from serious systemic disease such as stroke,
diabetes, aneurysm, multiple sclerosis, giant cell arteritis
or a wide range of other problems not related to OI may
also increase mortality. Any cause of lost vision should
be evaluated by an ophthalmologist or physician for
proper diagnosis and treatment.
Oculoplastic Findings in OI
Cole reported on bone fragility, craniosynostosis, ocu-
lar proptosis, hydrocephalus and distinctive facial fea-
tures as one type of OI.
61
Ocular proptosis may simply
be observed if there is no exposure keratopathy - drying
and erosion of the cornea from poor eyelid protection.
However, if exposure keratopathy occurs, oculoplastic
procedures to improve eye protection from the eyelids
may be required.
SURVEY OF EYE PROBLEMS IN OI
PATIENTS FROM THE KENNEDY
KRIEGER INSTITUTE 2013
An open survey of OI patients for eye diseases
was conducted at the Kennedy Krieger Institute in
Baltimore, Maryland. Four hundred and nine patients
responded to the survey with the listed ocular reported
findings as shown in
Table 31.2
. This group included
290 (71%) females and 119 (29%) males with an aver-
age age of 35.2 years (standard deviation 19.6 years).
Of the 409 patients by OI type, there were 203 (50%)
type I patients, 35 (9%) type III patients, 50 (12%)
type IV patients, six (2%) type V patients, two (1%)
type VI patients and 111 (27%) patients with unknown
type or without patient response to type.
While the responses were self-reported by patients and
not precise diagnoses provided by ophthalmologists or
other physicians, the results of the survey do suggest that
eye and vision-related problems do occur in a significant
number of OI patients. These conditions included myo-
pia (4.2%), hyperopia (1%), astigmatism (3%), cataract
(2.2%), keratoconus (1.7%), amblyopia or lazy eye (0.5%),
glaucoma (2.4%), chorioretinitis (0.2%), retinal tear or
