A 38-year-old male, hypertensive, with sensorineural hearing loss, referred for low visual acuity (VA). The family history recorded three deaf-mute male siblings and another with low vision.
Uncorrected visual acuity (VA) was 0.3 in the right eye (RA) and 0.2 in the left eye (LA). An anterior lenticonus was detected and fundus examination revealed an AM in both eyes, surrounded by a perimacular ring of whitish dots. Optical coherence tomography (OCT) was performed with Stratus OCT-3 (Carl Zeiss Meditec, Dublin, CA), which verified the presence of AM, stage IV, with a basal diameter of 1,347μm in OD and 1,409μm in OI, with hyperreflectivity in inner retinal layers and cystic changes in adjacent tissues. After a systemic study (including renal biopsy), a diagnosis of SA was made, and the patient is currently on haemodialysis due to severe renal failure, maintaining the characteristics of AM.

