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TitleAlport syndrome: The ophtalmologists’ role
PurposeAlport syndrome (AS) is an oculorenal disease caused by mutations in COL4A3 and COL4A4 (autosomal recessive), or COL4A5 (X-linked). Here we report some of our clinical cases of Alport syndrome, to reflect on the ophthalmologists’ role.
MethodsThree patients who were referred to our department are presented here. They all underwent opthalmological examination. A research of literature was done to be able to give a clear summary of the ophtalmological manifestations and their aid in diagnosis, prognosis and treatment.
ResultsAnterior Lenticonus, peripheral fleck retinopathy, central fleck retinopathy and dull macular reflex are highly specific for AS. In addition to the diagnostic value of these ocular manifestations, they are also usefull in predicting the genetic subtype (XLAS vs. ARAS) and prognosis. Anterior lenticonus, central and peripheral fleck retinopathie, dull macular reflex and eye symptoms in itself are associated with early renal failure. Most ocular manifestations in AS are asymptomatic and do not need treatment. Caution should be taken in treating anterior lenticonus and macular holes since there are difficulties in the capsulorhexis of cataract surgery and macular holes respond badly to surgical closure. Some studies have described ocular manifestations before the onset of renal failure. Screening kids at risk for developing AS might be usefull for early treatment.
ConclusionDue to the typical presentation of opthalmological manifestations, every patient suspected of AS should be referred for a thorough ophtalmological examination. The ophtalmologist can play a great role in diagnosis, prognosis and treatment of these patients.
Conflict of interestNo
Authors 1
DepartmentFaculty of Medicine, KUL
Authors 2
Last nameJACOB
DepartmentDept Ophtalmology, KUL
Authors 3
Last nameLEYS
DepartmentDept Ophtalmology, KUL
Authors 4
DepartmentDept Ophtalmology, KUL
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