Stargardt pigmentaria: una nueva combinación de 2 distrofias hereditarias de la retina

FA Bartol-Puyal, S Méndez-Martínez, NP Barón… - Archivos de la Sociedad …, 2023 - Elsevier
Mujer de 60 años que refería dificultad visual. Presentaba pigmentación en espículas óseas
y atrofia retiniana en toda la retina periférica, así como flecks retinianos en la mácula. La …

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

FA Bartol-Puyal, S Méndez-Martínez, NP Barón… - Archivos de la Sociedad …, 2023 - Elsevier
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 …

[PDF][PDF] Enfermedad de Stargardt presentación clínica de cuatro casos familiares

JPM López, RHP Vázquez, JAR Gómez… - Oftalmol Clin …, 2016 - oftalmologos.org.ar
Objetivo: Presentar cuatro casos de una familia con enfermedad de Stargardt, sus
manifestaciones clínicas y pruebas de imágenes complementarias. Material y métodos: La …

Stargardt disease: A clinical case report of two sisters with different clinical development

S Peñarrocha-Oltra, Á Rallo-López… - Archivos de la Sociedad …, 2021 - Elsevier
The purpose of this article is to describe the clinical manifestations and complementary
diagnostic tests of two sisters aged 26 and 31 with a diagnosis of Stargardt's disease. One of …

[PDF][PDF] A Rare Case of Stargardt's Disease

I Mermeklieva, K Kamenarova - Acta Medica Bulgarica, 2021 - sciendo.com
Objective: To describe a clinical case of rare eye diseases-–Stargardt's disease. Material
and methods: A detailed clinical examination, fundus autofluorescence, optical coherence …

Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness

N Huynh, BG Jeffrey, A Turriff, PA Sieving… - Ophthalmic …, 2014 - Taylor & Francis
Background: Inherited retinal diseases are uncommon, and the likelihood of having more
than one hereditary disorder is rare. Here, we report a case of Stargardt disease and …

A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings

M Descartes, SA Royal, J Franklin, K Goodin… - Clinical …, 2009 - journals.lww.com
Stargardt macular degeneration (STGD) is the most common form of inherited early/juvenile
onset maculopathy in which the peripheral region usually remains free of lesions. STGD has …

Stargardt disease caused by a rare combination of double homozygous mutations

D Serapinas, V Obrikytė, R Sakalauskas - Medicina, 2013 - mdpi.com
Stargardt disease is a juvenile macular degeneration most often inherited in an autosomal
recessive pattern, characterized by decreased vision in the first 2 decades of life. This report …

Peripheral pigmented retinal lesions in Stargardt disease

PY Zhao, MF Abalem, D Nadelman, CX Qian… - American journal of …, 2018 - Elsevier
Purpose To investigate the prevalence of peripheral pigmented retinal lesions and
associated clinical findings in patients with Stargardt disease. Design Retrospective case …

[PDF][PDF] Longitudinal follow‐up of siblings with a discordant Stargardt disease phenotype

R Singh, K Fujinami, LL Chen, M Michaelides… - Acta …, 2014 - academia.edu
Editor Clinical variability in Stargardt disease (STGD)/ABCA4-related disease is well
established (Michaelides et al. 2003). Concordance of the phenotype within families is well …