NEW - log your activity. Print and export a summary to use in your appraisal. Diagnosis of many of these conditions is made on clinical examination and subjective testing but has to be confirmed with electrodiagnostic tests. This is essential given the genetic implications and helps differentiate retinal disease from choroidal disease. Subjective retinal tests.
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Colour vision tests: the best known of these are the Ishihara's test plates which distinguish between red/green colour blindness. There are more sophisticated tests that can assess for yellow colour blindness, as well as help diagnose complex and subtle degrees of colour blindness. Dark adaptometry is useful in patients complaining of night blindness (nyctalopia ) - a common complaint in these disorders. Objective retinal assessment [2 ]. Fluorescein angiography provides a visual representation of changes in the retina and may help differentiate retinal from choroidal disease.
Electroretinograms (ERGs) record the action potential produced by the retina in response to light and show typical patterns in dark (scotopic) and light (photopic) conditions. Deviations from normal waves assist diagnosis in a similar manner to an ECG. Electro-oculograms (EOGs) complement ERG measurements.
They measure the standing potential between the electrically positive cornea and the electrically negative back of the eye. An abnormal EOG arises as a result of problems in the retinal pigment epithelium.
In describing inheritance patterns in this article, the following abbreviations are used:. AD - autosomal dominant.
AR - autosomal recessive. Management [1 ]. Management of these patients revolves around early diagnosis and specialised genetic counselling in order to decrease morbidity through optimal preventative care. Treatment options for these conditions are limited and tend to be focused around optometric visual rehabilitation where possible (eg use of low vision aids, orientation and mobility training).
However, as the responsible genes are being progressively identified, work is underway in the field of molecular and gene therapy. Currently, the highly specialised multidisciplinary services required to manage these patients have various availability throughout the UK with some areas having no access at all. Addressing this has been identified as one of a number of strategies that have been recommended in a recent report in order to improve the management and outcome of these patients.
Stargardt's disease [3 ]. Description - also known as juvenile macular dystrophy, this is the most common form of inherited macular degeneration along with fundus flavimaculatus (see below) and accounts for 7% of all retinal dystrophies. [4 ]. Inheritance - mainly AR [2 ] but there is a rare AD variant. [4 ].
Presentation [5 ] - childhood (about six years old) to early adulthood: bilateral (usually) decreased central vision. This is often out of proportion to the clinical picture and these children may initially be labelled as malingerers. [6 ] There is also progressive colour blindness. Prognosis - generally poor.
Once vision drops below 6/12, progression is rapid and the visual prognosis is poor. However, active steps in visual rehabilitation can achieve and maintain some degree of independence. [7 ].