Stargardt's pigmentosa: A novel combination of two inherited retinal dystrophies.

60-year-old woman referring visual disability. She presented bone spicule pigmentation and retinal atrophy in all peripheral retina, as well as macular retinal flecks. Multimodal imaging showed typical findings of both inherited retinal dystrophies (IRD). Electroretinogram confirmed rod dysfunction. Biallelic mutations were found in ABCA4 and CNGA1 genes. Although not common, different IRDs may be present in a same patient at the same time. This is the first reported case of the combination of RP with late-onset Stargardt's disease. We propose the name 'Stargardt's pigmentosa' for this novel clinical entity.

Relación entre grosor coroideo y densidad vascular en población joven sana / Relationship between choroidal thickness and vascular density in young healthy population

Antecedentes y objetivo El objetivo es analizar la densidad vascular (DV) coroidea en individuos sanos y compararla con el grosor coroideo (GC). Materiales y métodos Estudio transversal incluyendo individuos entre 18 y 35 años, caucásicos y con longitud axial (LA) 21-26 mm. Se estudió la coroides con tomografía de coherencia óptica-angiografía (OCTA) Triton DRI (Topcon) y se obtuvo un cubo macular de 6x6 mm. El software dio los valores de GC automáticamente. Los valores de DV se obtuvieron mediante codificación en números de los colores de los mapas de DV. Resultados Se analizaron 102 ojos (51 pacientes). La edad media fue 27,32 ± 3,94 años, la presión intraocular media fue 18,07 ± 2,38 mmHg, y la LA media fue 23,71 ± 0,66 mm. El GC fue mayor en el eje vertical y menor al acercarse a los lados nasal y temporal. El mayor GC se encontró en la mácula superior. La mayor DV coroidea fue en la fóvea y en la región yuxtapapilar. La menor DV coroidea se halló en la mácula superior e inferior. Se encontraron correlaciones moderadas inversas entre GC y DV coroidea en las regiones yuxtapapilar e inferior. Conclusiones La coroides tiene un patrón de grosor diferente del de la retina. Los vasos coroideos representan un porcentaje muy alto de la coroides en las regiones peripapilar y fóvea. Por el contrario, la mácula superior e inferior muestra valores bajos de DV (AU)

Background and purpose The purpose is to analyze choroidal vascular density (VD) in healthy individuals and to compare it with choroidal thickness (CT). Materials and methods Cross-sectional study enrolling healthy individuals between 18 and 35 years old of Caucasian race and with an axial length (AL) 21–26 mm. Choroid was imaged with swept-source optical coherence tomography angiography (OCTA) Triton DRI (Topcon) and a macular cube of 6 mm × 6 mm was obtained. CT values were automatically given by the software. VD values were obtained through codifying colors of the VD map into numbers. Results One hundred and two (51 patients) were analyzed. Mean age was 27.32 ± 3.94 years old, mean intraocular pressure was 18.07 ± 2.38 mmHg, and mean AL was 23.71 ± 0.66 mm. CT was higher in the vertical axis and lower when approaching nasal and temporal sides. The highest CT was in superior macula. The highest choroidal VD were in the fovea and in the juxtapapillary region. The lowest choroidal VD were found in superior and inferior macular areas. Moderate inverse correlations between CT and choroidal VD were found in the juxtapapillary and inferior regions. Conclusions The choroid has a thickness pattern that differs from retina. Choroidal vessels represent a very high percentage of choroid in the peripapillary region and in the fovea. On the contrary, superior and inferior macula reveals low values of VD (AU)