A 20-year-old White man was diagnosed with Alport syndrome during childhood in the context of a positive family history, sensorineural deafness, and progressive kidney dysfunction. The patient had been undergoing dialysis treatment for end-stage renal failure for 2 years when he presented to our clinic for his first routine ocular evaluation.

On examination, BCVA was 20/25 OU. Anterior segment examination was normal in each eye. The fundus examination of each eye revealed fovea-sparing retinal flecks, associated with the typical retinal ‘lozenge’ or ‘dull macular reflex’ (Figure 1). OCT showed symmetrical temporal macular thinning, which is also consistent with Alport syndrome (Figure 2).

<p>Figure 1.</p>

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Figure 1.

<p>Figure 2.</p>

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Figure 2.

DISCUSSION

Alport syndrome is a rare genetic disorder caused by abnormalities in the synthesis of type IV collagen. The typical presentation includes early-onset renal failure, hearing loss, and ocular abnormalities in up to 70% of patients. These abnormalities can involve the lens and cornea, but retinal changes are the most common ocular finding, particularly perimacular dot-and-fleck retinopathy. The dots and flecks can produce an abnormal tapetal-like reflex, and their demarcation from the perifoveal area results in a dull macular reflex or ‘lozenge.’1-4

The macular flecks do not cause visual dysfunction, but they provide important information for the nephrologist because they indicate a more severe effect of the disease on the kidneys. Temporal retinal thinning is also very common with Alport syndrome.

Overall, the visual prognosis of these patients is favorable; however, ophthalmic examination may play an important role in the diagnosis and in determining the severity of Alport syndrome,5 especially in male patients with early-onset renal failure.

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1. Savige J, Colville D. Ocular features aid the diagnosis of Alport syndrome. Nat Rev Nephrol. 2009;5(6):356-360.

2. Xu JM, Zhang SS, Zhang Q. Ocular manifestations of Alport syndrome. Int J Ophthalmol. 2010;3(2):149-151.

3. Cho IH, Kim HD, Jung SJ, Park TK. En face optical coherence tomography findings in a case of Alport syndrome. Indian J Ophthalmol. 2017;65(9):877-879.

4. Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Ocular features in Alport syndrome: pathogenesis and clinical significance. Clinical J Am Soc Nephrol. 2015;10(4):703-709.

5. Colville D, Wang YY, Tan R, Savige J. The retinal “lozenge” or “dull macular reflex” in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure. Br J Ophthalmol. 2009;93(3):383-386.