Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.

Purpose: We report a special case of a patient who presented with two rare genetic diseases, Turner syndrome and cone-rod dystrophy (CRD), caused by mutation in the ABCA4 gene.

Methods: We present a case of a 12-year-old female with a progressive visual loss, poor night vision and short stature. We performed a clinical, karyotype of peripheral blood and molecular genetic study.

Spontaneous reattachment of rhegmatogenous retinal detachment:about 5 cases.

Introduction: Spontaneous retinal reattachment is very rare in the natural evolution of rhegmatogenous retinal detachment and it is often undervalued.

Aim: To report some cases of this affection.

Methods: A retrospective study was conducted reporting five eyes of five patients who presented for acute visual loss in relation with a confirmed rhegmatogenous retinal detachment.

Multimodal Imaging in Retinitis Pigmentosa: Correlations among Microvascular Changes, Macular Function and Retinal Structure.

Purpose: To analyze microvascular changes in patients with retinitis pigmentosa (RP) with relatively preserved visual acuity (VA), using swept source optical coherence tomography (SS-OCT) angiography to correlate results to macular function and structure.

Methods: This was a case-control study conducted over 70 eyes of 35 RP patients with relatively preserved VA. All patients underwent a complete ophthalmic examination, including SS-OCT, OCT angiography (OCT-A), fundus autofluorescence (FAF), and multifocal electroretinogram (mfERG).