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Anterior Segment Cornea
Figure 6: Conjunctival Deposits Resembling Pingueculae in a
the macula in Gaucher disease is questionable.
64
Choroidal
Gaucher Patient
neovascularisation has been described in combination with extensive
retinal pigment epithelial alterations.
61
Saccade Initiation Failure
Patients with chronic neuronopathic type 3 disease typically develop
saccade initiation failure characterised by ‘lock-up’ of the eyes at the limit
of gaze due to a paucity of quick phases. It can be difficult to detect
clinically, but is readily revealed as missed quick phases during induced
optokinetic and vestibular nystagmus.
60
Enzyme-replacement Therapy
Therapy with recombinant human β-glucocerebrosidase (Cerezyme
®
,
imiglucerase) is very well tolerated, highly safe, efficacious in ameliorating
symptoms and signs in most disease areas and effective in preventing
further disease deterioration or development of irreversible
manifestations.
55,67–70
Splenectomy can be avoided, debilitating skeletal
complications can be averted in many and the average life expectancy of
Gaucher patients has increased, indicating a positive effect on reducing
Figure 7: Whitish Pre-retinal Deposit in a Non-neuronopathic
morbidity. Reported evidence of ophthalmological responses is limited,
Gaucher Patient
but reversal of loss of vision has been reported.
71
Diagnosis and Genetic Counselling
In a patient with an LSD presenting with early symptoms and signs, it is
likely that the consulted physician will first suspect a common, less serious
disorder. However, regular follow-up visits will bring to light an increasing
number of abnormalities, and may eventually raise the index of suspicion
of a more serious disorder, requiring further diagnostic work-up.
Ophthalmological manifestations are frequent in MPS I, II and VI and
Fabry disease and may even be the presenting signs or symptoms that
lead to clinical diagnosis. Eye manifestations also occur in patients with
Gaucher disease, particularly in the neuronopathic variant.
If a clinical suspicion of LSD exists, the clinician should first request an
enzyme activity assay. The most efficient and reliable method to confirm
the diagnosis is an assay using peripheral blood leukocytes and an
Ocular Features artificial substrate.
Conjunctiva Although knowledge of the specific genetic mutation may be of some
Pingueculae, prominent yellowish lesions of the bulbar conjunctiva, may help in predicting the severity of the disease in a specific case, a more
appear on both the nasal and temporal sides of the corneoscleral limbus important role for genotyping relates to screening and genetic
and often remain unnoticed by the patients, although they may be more counselling of family members of the affected individual. Genetic testing
prevalent than in the general population (see Figure 6). They have been of siblings, parents still at a reproductive age and members of an
shown to contain lipid-engorged macrophages.
61
extended family in case of consanguinity is essential after the diagnosis
has been established. The whole procedure should be accompanied by
Cornea counselling by a qualified and knowledgeable genetic counsellor or
Milky-white opacities, presumably caused by abnormal lysosomal geneticist, before and after testing, using validated techniques. Parents
glucocerebroside deposits, have been reported to occur in the corneal should be informed about the likelihood that siblings, relatives and future
epithelium (posterior stromal keratocytes), anterior chamber angle, ciliary children will inherit the disease. Currently, pre-natal diagnosis can be
body, pupillary margin, vitreous body and choroid.
62,63
Most of the established through enzyme deficiency testing using chorionic villi or
reported cases have been in neuronopathic disease.
64–66
cultured amniocytes, or by molecular analysis.
Retina Screening of Large Populations
Clusters of Gaucher cells on the inner surface and within the inner To identify undiagnosed cases with an LSD, large-scale screening
layers of the retina have been reported (see Figure 7).
66
Whether they programmes have been undertaken.
72
In 2004, 296 German
are a sign of neuronal involvement with reduced electrophysiological ophthalmologists participated in such a screening programme. Out of a
responses is still under investigation. Evidence for cherry-red spots in total of 29,998 patients examined, 20 were identified for further testing
60 EUROPEAN OPHTHALMIC REVIEW
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