Clinical and multimodal imaging findings in a case of serous maculopathy with absence of retinal pigment epithelium (SMARPE).

Introduction: The differential diagnosis for serous SRF can involve diseases with widely different pathogenic mechanisms that can range from vascular ocular diseases to ocular tumours and paraneoplastic syndromes. Recently, van Dijk et al. have described in three patients a new entity which they have called serous maculopathy with an absence of retinal pigment epithelium (SMARPE).

Alström syndrome: Two clinical cases with two novel pathogenic variants.

Purpose: To report two clinical cases of Alström syndrome (AS) with novel pathogenic variant of the ALMS1 gene not previously reported.

Case Description: Patient 1 was a 6-year-old female presenting with poor vision. Ophthalmic examination only showed a visual field (VF) with diffusely decreased sensitivity in both eyes.