Long time remodeling during retinal degeneration evaluated by optical coherence tomography, immunocytochemistry and fundus autofluorescence

I Pinilla, L Fernández-Sánchez, FJ Segura… - Experimental eye …, 2016 - Elsevier
Purpose To characterize the relationship between fundus autofluorescence (FAF), Optical
Coherence Tomography (OCT) and immunohistochemistry (IHC) over the course of chronic …

Treatment of cystoid macular edema in retinitis pigmentosa with intravitreal triamcinolone

L Scorolli, M Morara, A Meduri… - Archives of …, 2007 - jamanetwork.com
Objective To evaluate the results of treatment with intravitreal triamcinolone acetonide
injection in patients with cystoid macular edema secondary to retinitis pigmentosa. Methods …

CLRN1 mutations cause nonsyndromic retinitis pigmentosa

MI Khan, FFJ Kersten, M Azam, RWJ Collin, A Hussain… - Ophthalmology, 2011 - Elsevier
OBJECTIVE: To describe the mutations in the CLRN1 gene in patients from 2
consanguineous Pakistani families diagnosed with autosomal recessive retinitis pigmentosa …

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin

YH Jung, JJ Kwak, K Joo, HJ Lee, KH Park… - Frontiers in …, 2023 - frontiersin.org
Purpose: To investigate the clinical features, natural course, and genetic characteristics of
Koreans with rhodopsin-associated retinitis pigmentosa (RHO-associated RP). Design: We …

A nutraceutical strategy to slowing down the progression of cone death in an animal model of retinitis pigmentosa

I Piano, V D'antongiovanni, L Testai… - Frontiers in …, 2019 - frontiersin.org
Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by progressive
degeneration of the visual cells and abnormalities in retinal pigment epithelium, the vision is …

A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance

S Bhatia, S Goyal, IR Singh, D Singh… - Documenta …, 2018 - Springer
Purpose To identify the underlying genetic defect for non-syndromic autosomal dominant
retinitis pigmentosa (adRP) with incomplete penetrance in a North Indian family. Methods …

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

DM Wu, H Khanna, P Atmaca-Sonmez, PA Sieving… - Eye, 2010 - nature.com
Purpose To document the progression of disease in male and female members of a
previously described family with X-linked dominant retinitis pigmentosa (RP) caused by a de …

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family

S Saini, PN Robinson, JR Singh, V Vanita - Experimental eye research, 2012 - Elsevier
To localize and identify the gene linked with non-syndromic autosomal dominant retinitis
pigmentosa (adRP) with high but not complete penetrance in an Indian family. A detailed …

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

W Liu, R Guo, H Hao, J Ji - BMC ophthalmology, 2021 - Springer
Background To explore the molecular genetic cause of a four-generation autosomal
dominant retinitis pigmentosa family in China. Methods Targeted region sequencing was …

A novel mutation in MERTK for rod-cone dystrophy in a North Indian family

S Bhatia, N Kaur, IR Singh, V Vanita - Canadian Journal of Ophthalmology, 2019 - Elsevier
Objective To identify the underlying genetic defect of childhood-onset severe rod-cone
dystrophy (RCD) in a consanguineous family from North India with autosomal recessive …