X-linked Recessive Cone Dystrophy With Tapetal-like Sheen

Clinical features and a follow‐up study in a family with X‐linked progressive cone‐rod dystrophy

“…As in the present study, visual fields have earlier shown both normal findings and central absolute or relative scotomas (Pinckers et al 1981; Heckenlively & Weleber 1986; Reichel et al 1989; Amzallag et al 1990; Meire et al 1994). Moreover, 5 of our affected members had concentrically constricted visual fields as a sign of rod impairment.…”

“…Only 2 affected members had the first symptoms as adults. In previous studies, the onset of the disease has been at early school age (Pinckers et al 1981; Jacobson et al 1989), but also both as child and adult (Heckenlively & Weleber 1986; van Everdingen et al 1992; Hong et al 1994) as in our study.…”

“…In addition, severely atrophic macular regions have been reported in some of the oldest affected members (Pinckers et al 1981; Jacobson et al 1989; Reichel et al 1989; Amzallag et al 1990; van Everdingen et al 1992; Hong et al 1994; Meire et al 1994). The tapetalor metallic‐like sheen in the eye fundus as observed in the study of Heckenlively & Weleber (1986) and Jacobson et al (1989) was not found in our patients.…”

Clinical features and a follow‐up study in a family with X‐linked progressive cone‐rod dystrophy

“…As in the present study, visual fields have earlier shown both normal findings and central absolute or relative scotomas (Pinckers et al 1981; Heckenlively & Weleber 1986; Reichel et al 1989; Amzallag et al 1990; Meire et al 1994). Moreover, 5 of our affected members had concentrically constricted visual fields as a sign of rod impairment.…”

“…Only 2 affected members had the first symptoms as adults. In previous studies, the onset of the disease has been at early school age (Pinckers et al 1981; Jacobson et al 1989), but also both as child and adult (Heckenlively & Weleber 1986; van Everdingen et al 1992; Hong et al 1994) as in our study.…”

“…In addition, severely atrophic macular regions have been reported in some of the oldest affected members (Pinckers et al 1981; Jacobson et al 1989; Reichel et al 1989; Amzallag et al 1990; van Everdingen et al 1992; Hong et al 1994; Meire et al 1994). The tapetalor metallic‐like sheen in the eye fundus as observed in the study of Heckenlively & Weleber (1986) and Jacobson et al (1989) was not found in our patients.…”

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

“…Subsequent studies further refined the COD1 locus and identified variants in RPGR ORF15 as causative. 25 , 29 , 30 The tapetal-like fundus features previously described 27 , 28 are strikingly similar to those that we identified in our RPGR patients.…”

“…Interestingly, these patients had a tapetal-like fundus sheen that reportedly seemed to arise from the level of the retinal pigment epithelium. 27 Prolonged dark adaptation resulted in the fundi adopting a more normal reddish-orange appearance, consistent with the Mizuo–Nakamura phenomenon. Similarly, Jacobson et al (1989) 28 reported the clinical features of a four-generation X-linked CD (COD1) family that included a tapetal-like reflex in affected males.…”

Clinical features and a follow‐up study in a family with X‐linked progressive cone‐rod dystrophy

“…As in the present study, visual fields have earlier shown both normal findings and central absolute or relative scotomas (Pinckers et al 1981; Heckenlively & Weleber 1986; Reichel et al 1989; Amzallag et al 1990; Meire et al 1994). Moreover, 5 of our affected members had concentrically constricted visual fields as a sign of rod impairment.…”

“…Only 2 affected members had the first symptoms as adults. In previous studies, the onset of the disease has been at early school age (Pinckers et al 1981; Jacobson et al 1989), but also both as child and adult (Heckenlively & Weleber 1986; van Everdingen et al 1992; Hong et al 1994) as in our study.…”

“…In addition, severely atrophic macular regions have been reported in some of the oldest affected members (Pinckers et al 1981; Jacobson et al 1989; Reichel et al 1989; Amzallag et al 1990; van Everdingen et al 1992; Hong et al 1994; Meire et al 1994). The tapetalor metallic‐like sheen in the eye fundus as observed in the study of Heckenlively & Weleber (1986) and Jacobson et al (1989) was not found in our patients.…”

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

“…Subsequent studies further refined the COD1 locus and identified variants in RPGR ORF15 as causative. 25 , 29 , 30 The tapetal-like fundus features previously described 27 , 28 are strikingly similar to those that we identified in our RPGR patients.…”

“…Interestingly, these patients had a tapetal-like fundus sheen that reportedly seemed to arise from the level of the retinal pigment epithelium. 27 Prolonged dark adaptation resulted in the fundi adopting a more normal reddish-orange appearance, consistent with the Mizuo–Nakamura phenomenon. Similarly, Jacobson et al (1989) 28 reported the clinical features of a four-generation X-linked CD (COD1) family that included a tapetal-like reflex in affected males.…”

Clinical features and a follow‐up study in a family with X‐linked progressive cone‐rod dystrophy

“…As in the present study, visual fields have earlier shown both normal findings and central absolute or relative scotomas (Pinckers et al 1981; Heckenlively & Weleber 1986; Reichel et al 1989; Amzallag et al 1990; Meire et al 1994). Moreover, 5 of our affected members had concentrically constricted visual fields as a sign of rod impairment.…”

“…Only 2 affected members had the first symptoms as adults. In previous studies, the onset of the disease has been at early school age (Pinckers et al 1981; Jacobson et al 1989), but also both as child and adult (Heckenlively & Weleber 1986; van Everdingen et al 1992; Hong et al 1994) as in our study.…”

“…In addition, severely atrophic macular regions have been reported in some of the oldest affected members (Pinckers et al 1981; Jacobson et al 1989; Reichel et al 1989; Amzallag et al 1990; van Everdingen et al 1992; Hong et al 1994; Meire et al 1994). The tapetalor metallic‐like sheen in the eye fundus as observed in the study of Heckenlively & Weleber (1986) and Jacobson et al (1989) was not found in our patients.…”

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

“…Subsequent studies further refined the COD1 locus and identified variants in RPGR ORF15 as causative. 25 , 29 , 30 The tapetal-like fundus features previously described 27 , 28 are strikingly similar to those that we identified in our RPGR patients.…”

“…Interestingly, these patients had a tapetal-like fundus sheen that reportedly seemed to arise from the level of the retinal pigment epithelium. 27 Prolonged dark adaptation resulted in the fundi adopting a more normal reddish-orange appearance, consistent with the Mizuo–Nakamura phenomenon. Similarly, Jacobson et al (1989) 28 reported the clinical features of a four-generation X-linked CD (COD1) family that included a tapetal-like reflex in affected males.…”