Temporal retinal thinning, a clue to Alport syndrome
Yousef Alizadeh1 , Maryam Dourandeesh1 *
- Eye Research Center, Department of Eye, Amiralmomenin Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
Abstract: Retina thinning or atrophy can be seen in different diseases including dense deposit disease, proliferative sickle cell retinopathy, macular telangiectasia, nephronophthisis, MELAS, and some cases of focal and segmental glomerulosclerosis. Generalized retinal thinning also occurs with poorly-controlled hypertension and retinal ischemia. (1,2) It can be easily detected by Spectral-domain optical coherence tomography (SD-OCT). (3) Retinal thinning, along with other ocular findings, can help differentiate some of the abovementioned diseases. Some of these ocular findings are subtle and only can be noticed when there is high clinical suspicion.
Here, we present a case with temporal retinal thinning in Spectral-domain optical coherence tomography (SD-OCT) with the final diagnosis of Alport syndrome.
Methods: A 20-year-old man attended our clinic for refractive surgery. He mentioned mild hearing loss and a history of kidney transplantation about three years ago. The manifest refraction was -3.00 D (D: diopter) sph=-6.00 D cyl ×160°A in the right eye and -2.00 D sph=-5.00 D cyl ×150°A in the left eye. The corrected visual acuity of the right eye was 0.5 and the left eye 0.6. corneal astigmatism was 2 D. Slit-lamp examination of both eyes was unremarkable. Fundus examination of the left eye revealed mild reduced foveal reflex. Spectral-domain optical coherence tomography (SD-OCT) of both eyes showed temporal macular thinning especially affecting the inner retinal layers (Figure 1). According to OCT findings and the type of astigmatism, the anterior segment was re-evaluated and revealed the presence of a mild anterior lenticonus. The patient was referred to an audiologist, who confirmed a sensorineural hearing loss The findings were in keeping with the diagnosis of X-linked Alport syndrome.
Results: Figure 1
Conclusion: Alport syndrome is a hereditary multisystem disease characterized by hematuria, progressive renal failure, hearing loss, anterior lenticonus, and retinopathy. (3) Retinal findings of this syndrome include dot and-fleck retinopathy, temporal macular thinning, vitelliform maculopathy, foveal pigment disruption, and macular hole. (2) Temporal macular thinning has been highlighted as the commonest ocular finding in X-linked and recessive Alport syndrome. (3)
Since ocular findings in Alport syndrome can be subtle and easily overlooked, findings such as temporal macular thinning can provide a hint to clinicians to investigate further for this syndrome.
