Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases

F Ruggeri, C Ciancimino, A Guillot, D Fumi… - Current Issues in …, 2024 - mdpi.com
Posterior polar annular choroidal dystrophy (PPACD) is a rare ocular disorder and presents
as symmetric degeneration of the retinal pigment epithelium (RPE) and the underlying …

Special Issue “The Molecular and Cellular Pathophysiologic Mechanisms Underlying Ocular Diseases and Emerging Therapies”

S Kaštelan - International Journal of Molecular Sciences, 2024 - mdpi.com
Visual impairment and ophthalmic diseases represent significant global public health
concerns, and their prevalence continues to rise [1–3]. It is important for researchers and …

Mutational Profile and Retinal Phenotypes of PCARE‐Related Cone‐Rod Dystrophies in a Mexican Cohort

VR López-Rodríguez, R Arce-González… - Journal of …, 2024 - Wiley Online Library
Purpose. The aim of the study is to describe the genotype and phenotype of a Mexican
cohort with PCARE‐related retinal disease. Methods. The study included 14 patients from 11 …

[HTML][HTML] Early Macular Involvement in Non-syndromic Retinitis Pigmentosa

A Amato, N Wongchaisuwat, A Lamborn, L Everett… - 2023 - intechopen.com
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD), with a
worldwide prevalence of about 1: 4000. Functionally, RP is a rod-cone dystrophy (RCD) …

Early Macular Involvement in Non-syndromic Retinitis Pigmentosa

L Everett, P Yang, ME Pennesi - Macular Diseases-An Update …, 2024 - books.google.com
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD), with a
worldwide prevalence of about 1: 4000. Functionally, RP is a rod-cone dystrophy (RCD) …