Structural and Functional Retinal Changes in Patients with Mild Cognitive Impairment with and without Diabetes.

Our objective is to analyze retinal changes using optical coherence tomography angiography (OCT-A) in patients with mild cognitive impairment (MCI) to characterize structural and vascular alterations. This cross-sectional study involved 117 eyes: 39 eyes from patients with MCI plus diabetes (DM-MCI), 39 eyes from patients with MCI but no diabetes (MCI); and 39 healthy control eyes (C). All patients underwent a visual acuity measurement, a structural OCT, an OCT-A, and a neuropsychological examination.

A new mutation in the gene in achromatopsia.

Purpose: To report a case of achromatopsia with a new mutation in the gene which has not been previously described.

Methods: Case report.

Patients: A single patient.

A new mutation in the PAX2 gene in a Papillorenal Syndrome patient.

Purpose: To present a new mutation in a patient with Papillorenal Syndrome (PAPRS).

Observations: PAPRS is an autosomal dominant disease that involves ocular and renal abnormalities. We present a patient with PAPRS with a genetically diagnosed PAX2 and new pathogenic mutation.