A 42-year-old female patient with vision loss in both eyes was examined in our clinic. She had a history of hearing loss for 30 years and kidney failure for 5 years.
Diabetes mellitus (-)
Systemic hypertension (-)
Family history (+)
Best corrected visual acuity was 3/10 in the right eye and 3/10 in the left eye. Intraocular pressure was 10 mmHg in the right eye and 11 mmHg in the left eye. Anterior segment examination revealed lenticonus and endothelial opacities in both eyes. Fundus examination revealed perimacular flecks in both eyes.
Multicolor imaging shows white-yellow flecks at the perimacular area (Figure 1).
Fundus autofluorescence imaging shows no abnormality (Figure 2)
Infrared reflectance imaging shows hyperreflective flecks at the perimacular area and SD-OCT imaging shows retinal thinning at the temporal retina (Figure 3)
Alport syndrome (AS) is a basement membrane disease caused by type 4 collagen defect. It shows X-linked inheritance. Systemic findings include hematuria, proteinuria, progressive renal failure, and sensorineural hearing loss. Lenticonus is diagnostic for the disease. Perimacular flecks, peripheral retinal flecks, temporal retinal thinning, and foveal reflex loss are features of retinal findings. The disease usually begins with hematuria in the 1st decade.
- Fawzi AA, Lee NG, Eliott D, Song J, Stewart JM. Retinal findings in patients with Alport
syndrome: expanding the clinical spectrum. Br J Ophthalmol. 2009; 93:1606–1611. https://pubmed.ncbi.nlm.nih.gov/19635720/