Abstract
Optic disc drusen are eye abnormalities characterised by calcific degeneration affecting some axons of the optic nerve. Alport syndrome is a collagen IV related nephropathy with well-described pathognomonic ocular features. We present the case of a child who following series of investigations was found to have bilateral optic disc drusen, and eventually a further diagnosis of Alport syndrome confirmed. Literature is clear on the underlined aetiology responsible for both renal and extra renal abnormalities of Alport syndrome, which is not related to development of optic disc drusen. The case described makes it pertinent that not only the associated eye signs of Alport syndrome are monitored, but also early detection of other possible co-existing diseases that may influence outcomes.
Highlights
Alport syndrome is a nephropathy resulting from abnormalities affecting α3, 4 and 5 chains of type IV collagen [1]; and is characterised by renal and eye symptoms, sensorineural deafness and a positive family history of renal impairment
How to cite this paper: Sambo, A., Aslam, M. and Padmanabha, S. (2014) Optic Disc Drusen in a Child Diagnosed with Alport Syndrome—Case Report
The current available evidence shows anterior lenticonus to be pathognomonic of Alport syndrome [4], the presence of two other ocular abnormalities is strongly suggestive of the condition; these are dot and fleck retinopathy, and posterior polymorphous corneal dystrophy [10] [11]
Summary
Alport syndrome is a nephropathy resulting from abnormalities affecting α3, 4 and 5 chains of type IV collagen [1]; and is characterised by renal and eye symptoms, sensorineural deafness and a positive family history of renal impairment. Anterior lenticonus is pathognomonic of Alport Syndrome [4] It is a rare condition in which the lens has a conical protrusion of its anterior cortex [5] as a result of defective type IV collagen and is seen in 15% - 20% of those with X-linked pattern of the condition [4]. Optic disc drusen are acellular calcific deposits occurring in small and crowded optic discs with abnormal vasculature, and evidence suggests axoplasmic transport alteration and axonal degeneration are involved in its formation [6] [7] This is a case report of Alport syndrome that was confirmed following a protracted period where investigations for papilloedema initially lead to a diagnosis of optic disc drusen in a child. Optic disc drusen is not an uncommon eye problem [8], and though difficult to diagnose in childhood, towards end of adolescence it becomes more identifiable with one of the clinical presentations being visual field loss [9]
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