Clinical characteristics and genetic variants of a large cohort of patients with retinitis pigmentosa using multimodal imaging and next generation sequencing
R Sather III, J Ihinger, M Simmons, T Khundkar… - International journal of …, 2023 - mdpi.com
This retrospective study identifies patients with RP at the Inherited Retinal Disease Clinic at
the University of Minnesota (UMN)/M Health System who had genetic testing via next …
the University of Minnesota (UMN)/M Health System who had genetic testing via next …
[HTML][HTML] Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
R Riveiro-Alvarez, E Vallespin, R Wilke… - Molecular …, 2008 - ncbi.nlm.nih.gov
Purpose Stargardt disease (STGD), characterized by central visual impairment, is the most
common juvenile macular dystrophy. All recessively inherited cases are thought to be due to …
common juvenile macular dystrophy. All recessively inherited cases are thought to be due to …
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy
D Ducroq, S Shalev, A Habib, A Munnich… - European journal of …, 2006 - nature.com
A large multiplex family presumably affected with autosomal recessive cone–rod dystrophy
(CRD) was ascertained from Israel. In this family of Christian Arab ancestry with six …
(CRD) was ascertained from Israel. In this family of Christian Arab ancestry with six …
[HTML][HTML] Clinical Observation and Genotype-Phenotype Analysis of ABCA4-Related Hereditary Retinal Degeneration before Gene Therapy
X Xiao, L Ye, C Chen, H Zheng, J Yuan - Current Gene Therapy, 2022 - ncbi.nlm.nih.gov
Background: Hereditary retinal degeneration (HRD) is an irreversible eye disease that
results in blindness in severe cases. It is most commonly caused by variants in the ABCA4 …
results in blindness in severe cases. It is most commonly caused by variants in the ABCA4 …
[PDF][PDF] An uncommon case of retinitis pigmentosa patients based on clinical and genetic study
ABBI Perdamaian - Med J Malaysia, 2024 - e-mjm.org
Inherited retinal dystrophy (IRD) is a group of phenotypes caused by mutations in visual
pathways-related genes, mostly occurring at photoreceptors. This heterogeneous group …
pathways-related genes, mostly occurring at photoreceptors. This heterogeneous group …
Stargardt Hastalığının Elektrofizyolojik Özellikleri ve Bir Olguda Progresyonun Optik Koherens Tomografi, Elektroretinografi ve Elektrookülografi ile Araştırılması
MK Gündüz, K Hürkan, R Oltulu, G Şatırtav Akdeniz - 2015 - acikerisim.erbakan.edu.tr
Özet Bu çalışmada Stargardt hastalığının özelliklerinin ve progresyonunun incelenmesi
amaçlanmıştır. Gereç ve Yöntem: Fundus flavimakülatuslu (FFM) 18 olgu ve fundus …
amaçlanmıştır. Gereç ve Yöntem: Fundus flavimakülatuslu (FFM) 18 olgu ve fundus …
Stargardt hastalığı ve retinitis pigmentosa birlikteliği: ortak genetik mutasyon mu sorumlu?
Ö Artunay, E YÜZBAŞIOĞLU… - Journal of Retina …, 2011 - retinavitreousjournal.com
Bu çalışmada ABCA4 gen mutasyonlu bir olguda görülen Stargart hastalığı (STGH) ve
Retinitis Pigmentosa (RP) birlikteliği tartışılmaktadır. Gece görmesi ileri derecede bozuk olan …
Retinitis Pigmentosa (RP) birlikteliği tartışılmaktadır. Gece görmesi ileri derecede bozuk olan …
Macular dystrophy in a young male with corneal dystrophy among sisters
G Zachariah, T Idiculla, BR Keshav… - Oman Journal of …, 2011 - journals.lww.com
Discussion Stargardts disease is usually diagnosed in individuals under the age of 20. It is
symptomatically similar to age-related macular degeneration. Juvenile macular …
symptomatically similar to age-related macular degeneration. Juvenile macular …