The Development of Suspended Scattering Particles in Motion in a Patient with Exudative Reticular Pseudodrusen.

The development and characteristics of suspended scattering particles in motion (SSPiMs) in a patient with exudative reticular pseudodrusen (ERPD) are reported using multimodal imaging modalities. An 82-year-old woman was referred because of persistent macular edema during intravitreal injections of bevacizumab. ERPD associated with types I and II (mixed type) macular neovascularization in both eyes was diagnosed.

Response to treatment with intravitreal anti-vascular endothelial growth factors in bilateral exudative cuticular drusen.

Purpose: To present the response to treatment with anti-vascular endothelial growth factor (VEGF) agents of exudative cuticular drusen (CD) in a patient who developed temporary suspended scattering particles in motion (SSPiM) after injection in the symptomatic eye and full recovery of subretinal hyperreflective exudation (SHE) in the fellow eye by multimodal imaging modalities.

Observations: A 46-year-old patient was diagnosed with exudative CD associated with type I and II (mixed type) macular neovascularization (MNV) in the right eye, and quiescent type I MNV was detected in the left eye by en face optical coherence tomography angiography (OCTA). Bilateral flat irregular pigment epithelial detachments were found in both eyes by optical coherence tomography (OCT).

Novel recessive cone-rod dystrophy caused by POC1B mutation.

Importance: A new form of cone-rod dystrophy (CORD) is described and the gene responsible for the disease is identified.

Objective: To clinically evaluate 4 patients and 5 control relatives, perform disease gene mapping, and identify the gene defect responsible for CORD.

Design, Setting, And Participants: Prospective observational case series of 13 members of a consanguineous family and 113 unrelated control individuals.

A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Cone-rod dystrophies are inherited retinal dystrophies that are characterized by progressive degeneration of cones and rods, causing an early decrease in central visual acuity and colour vision defects, followed by loss of peripheral vision in adolescence or early adult life. Both genetic and clinical heterogeneity are well known. In a family with autosomal recessive cone-rod dystrophy, genetic analyses comprising genome scan with microsatellite markers, fine mapping and candidate gene approach resulted in the identification of a homozygous missense GUCY2D mutation.