Bergmeister’s papilla in a young patient with type 1 sialido
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Sialidosis is a rare genetic lysosomal storage disorder caused by a deficit of neuraminidase enzyme activity. Patients with sialidosis present various neurological disorders such as: myoclonic epilepsy and hypotonia, often associated with visual impairment. A typical aspect of sialidosis is the finding of a macular cherry-red spot on an ocular fundus examination.

A 28-year-old young woman suffering from type 1 sialidosis, underwent a complete ophthalmological assessment, complaining of a progressive decline of visual acuity in recent months. Polymerase chain reaction (PCR) and Sanger sequencing analysis of NEU1 gene disclosed an already described compound heterozygosity. The patient suffered from myoclonic epilepsy with hypotonia and severe motor disability, from approximately the age of 13?years. The best-corrected visual acuity (BCVA) measured with the Early Treatment Diabetic Retinopathy Study (ETDRS) chart at 2?m was: 45 letters (20/63) in the right eye (OD) and 33 letters (20/100) in the left eye (OS). Slit-lamp examination showed a slight diffuse opacity of the corneal endothelium in both eyes, with incipient lens cortical opacities. There was no nystagmus. Examination of the ocular fundus and retinography performed with True Color confocal ophthalmoscope EIDON, showed a macular cherry-red spot bilaterally, with diffuse dystrophy of the retinal pigment epithelium in the middle periphery. In the right eye the optic disc was normal, while in the left eye, on the nasal portion of the optic disc, there was a whitish area of vitreous thickening, residual from the fetal vascularization on the optic disc (Bergmeister’s papilla) (Fig. 1).

This case underlines the importance of performing SD-OCT in neurological pathologies characterized by cherry-red macular spots such as sialidosis, allowing to better visualize a congenital anomaly of the optic disc, not clearly visible with ocular fundus examination alone. Similar cases presenting the remnant hyaloid artery should be monitored over time being a possible cause of future visual deterioration.

Source: https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12886-020-01628-1
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