Retinitis Pigmentosa

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

“…In agreement with the first published series from the United States (a 1978 study of 173 RP patients), the percent of our cohort with X-linked RP is relatively high. This higher percentage of X-linked RP was corroborated in the Denmark study [28] but was higher than other RP studies [30][31][32][33]. It should be noted that some our X-linked RP patients consisted of members of the same family.…”

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

“…In agreement with the first published series from the United States (a 1978 study of 173 RP patients), the percent of our cohort with X-linked RP is relatively high. This higher percentage of X-linked RP was corroborated in the Denmark study [28] but was higher than other RP studies [30][31][32][33]. It should be noted that some our X-linked RP patients consisted of members of the same family.…”

RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins

“…RP3 is the major subtype of XLRP accounting for over 70% of affected families (1,2). The RP3 gene, called retinitis pigmentosa GTPase regulator (RPGR), encodes several distinct alternatively spliced transcripts that are widely expressed (3)(4)(5).…”

¹⁶⁰Thr Mutation in the Rhodopsin Gene Associated withRet initis pigmentosa

“…The clinical variation is paralleled by genetic heterogeneity. RP can be inherited as an autosomal dominant, autosomal recessive or X-linked disease [1]. Mitochondrial and digenic inheritance are well documented also [2, 3].…”

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

“…In agreement with the first published series from the United States (a 1978 study of 173 RP patients), the percent of our cohort with X-linked RP is relatively high. This higher percentage of X-linked RP was corroborated in the Denmark study [28] but was higher than other RP studies [30][31][32][33]. It should be noted that some our X-linked RP patients consisted of members of the same family.…”

RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins

“…RP3 is the major subtype of XLRP accounting for over 70% of affected families (1,2). The RP3 gene, called retinitis pigmentosa GTPase regulator (RPGR), encodes several distinct alternatively spliced transcripts that are widely expressed (3)(4)(5).…”

¹⁶⁰Thr Mutation in the Rhodopsin Gene Associated withRet initis pigmentosa

“…The clinical variation is paralleled by genetic heterogeneity. RP can be inherited as an autosomal dominant, autosomal recessive or X-linked disease [1]. Mitochondrial and digenic inheritance are well documented also [2, 3].…”

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

“…In agreement with the first published series from the United States (a 1978 study of 173 RP patients), the percent of our cohort with X-linked RP is relatively high. This higher percentage of X-linked RP was corroborated in the Denmark study [28] but was higher than other RP studies [30][31][32][33]. It should be noted that some our X-linked RP patients consisted of members of the same family.…”

RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins

“…RP3 is the major subtype of XLRP accounting for over 70% of affected families (1,2). The RP3 gene, called retinitis pigmentosa GTPase regulator (RPGR), encodes several distinct alternatively spliced transcripts that are widely expressed (3)(4)(5).…”

¹⁶⁰Thr Mutation in the Rhodopsin Gene Associated withRet initis pigmentosa

“…The clinical variation is paralleled by genetic heterogeneity. RP can be inherited as an autosomal dominant, autosomal recessive or X-linked disease [1]. Mitochondrial and digenic inheritance are well documented also [2, 3].…”