Retinitis pigmentosa sine pigmento masqueraded as myopia: A case report (CARE)

Retinitis pigmentosa is a major cause of visual disability and blindness. Photopsia is usually presented in patients with retinal traction caused by posterior vitreous detachment in clinic, which would occur more commonly in those suffer from moderate or high myopia. We describe a patient with leopard-like retinopathy initially complaining of photopsia caused not by myopia but by retinitis pigmentosa.

A 39-year-old woman with a history of moderate myopia presented to us complaining of photopsia for several days.

Fundus examination revealed leopard-like retinopathy with normal optic disc and macula appearance in both eyes. The atrophy of retinal pigment epithelium was found in peripheral retina while no bone spicule was present. Retinal multimodal imaging helped in the correct diagnosis of retinitis pigmentosa (sine pigmento), later confirmed by genetic testing.

At current no specific treatment was applied, but the patient was required for follow-up observation every six months.

Follow-up observation.

This case highlights the potential for retinitis pigmentosa sine pigmento to present with photopsia under cover of myopia and the importance of performing multimodal imaging including fundus autofluorescence for fundus disorders. Careful history review and multimodal imaging with genetic testing would help for the correct diagnosis of retinitis pigmentosa sine pigmento.