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Stargardt's is an autosomal recessive inherited macular dystrophy (although no family members are known to have the condition in this case) and used to be called juvenile macular degeneration. The loss of central vision concomitant with the central dystrophic changes generally occurs during teenage years but can, as in this case, be earlier.
During the early stages of the disease ophthalmoscopic appearance may be unremarkable, so very occasionally the reported loss of vision may be wrongly assumed to be due to malingering. Over time the macula may assume a 'beaten copper' appearance, like the surface of those old bed warmers in country pub hearths. Eventually a stage of geographic atrophy is reached as can be seen in the fundus photo of our patient (Figure 1).
Along with the central acuity loss there is often found significant photophobia which may not develop until the third or fourth decade, though again is reported by our patient.
There are two points of interest in this case. Firstly, the macular scan allows an accurate assessment of the central retinal thinning (Figure 2). This would have proved particularly useful in the early phase where ophthalmoscopy might not have yielded adequate information and would also have helped in the monitoring of change over time. Electrodiagnostic testing, often essential for diagnosis, is not always readily available, so OCT here would prove a boon.
Furthermore, the accurate mapping of the area of atrophy may prove useful in helping the patient adapt to eccentric viewing and decide upon the most appropriate preferred retinal locus. This is not always the position chosen initially by the patient and careful placement of targets in the visual environment to correlate with the measured area of residually healthy retina proves helpful. Figure 3 shows the retinal analysis map for the left eye.
The second point of interest concerning the patient relates to his earlier appointments when still at school. He had already been through the statementing process (as required by law for any child with a recognised special educational need). This had resulted in him receiving a laptop and a tinted visor (not dissimilar to the sort given out after cataract operations). He was unable to use the laptop usefully, did not wear the 'ugly' shades and had trouble using text on his mobile.
We showed him how to modify his mobile, dispensed tinted lenses and side shields in a 'fashionable' frame and recommended to his school that the statement be reviewed particularly concerning his laptop. The statement includes five processes, the last of which concerns ongoing review of a management plan.
It might sometimes be the optometrist that recognises a statement is not delivering the appropriate help and it is useful to remember that we may play a useful role here.
? A 3D animation of the patient's retina is viewable in the clinical gallery of Optician Space