Genetic variant of Stickler's syndrome.

Cases Reports: Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment epithelium hyperplasia, vascular sheathed and sclerosis of peripheral predominance. A genetic study confirmed the diagnosis of Stickler syndrome with a variant in the mutation of the COL2A1 gene.

Discussion: Stickler's syndrome should be suspected in families with a characteristic phenotype with vitreous syneresis and alterations in the retina, but there may be genetic variants that do not express the classic phenotype.

Dome shaped macula associated with myopic retinochoroidosis. Use of spironolactone.

Cases Reports: The cases are presented of three women of 22, 36 and 55 years old with bilateral myopic retinochoroidosis. They had unilateral decreased visual acuity, normal bilateral tonometry, and biomicroscopy. Funduscopy showed bilateral and unilateral myopic maculopathy, and Optical Coherence Tomography (OCT) showed a dome shaped macula with neurosensory detachment.

Spironolactone, a therapeutic alternative in the treatment of diffuse retinal pigment epitheliopathy.

Case Report: Two cases are presented of patients with chronic diffuse epitheliopathy (CDE) that showed a favourable response when treated with spironolactone. The first patient had regions of neurosensory detachment (DNS) and the second, multiple DNS, secondary intra-retinal cysts and retinal pigment epithelium detachment.

Discussion: After treatment with spironolactone, both patients showed a visual acuity improvement and structural changes (reduced neurosensory retinal detachment and cystoid degeneration).