Ocular abnormalities in sialidosis type I

A 33-year-old man had experienced gradual vision decline, episodic tremors in all four limbs, and hearing decline for 4 years. The best-corrected visual acuities were 20/100 OU. Slit-lamp examination showed punctate perinuclear lens opacities [Fig. 1a], and funduscopic examination revealed macular bilateral cherry-red spots [Fig. 1b]. Optical coherence tomography showed hyperreflectivity of the nerve fiber layer and ganglion cell layer without a clear boundary between the two layers [Fig. 1c]. The whole-exome sequencing showed two compound heterozygous mutations in the NEU1 gene. A diagnosis of sialidosis type I was confirmed. (The same findings were also detected in the left eye.)Figure 1: Multimodal imagings of ocular abnormalities in sialidosis type I. (a) slit-lamp examination showed punctate perinuclear lens opacities.(b) macular cherry-red spot had obsrved in funduscopic examination. (c) OCT showed hyperreflectivity of the nerve fiber layer and ganglion cell layer without a clear boundary between the two layersDeclaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.