X linked progressive cone dystrophy with specific attention to carrier detection.

Everdingen, Judith A. M. Van; Went, L. N.; Keunen, J. E. E.; Oosterhuis, J. A.

doi:10.1136/jmg.29.5.291

Cited by 14 publications

(11 citation statements)

References 14 publications

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“…Colour vision defect is one of the most important features of progressive cone dystrophy. In this X‐linked cone dystrophy, a red colour vision defect has been reported in most cases, as in our study (Pinckers et al 1981; Reichel et al 1989; van Everdingen et al 1992). In addition, deutan, deutan‐tritan and nonspecific colour vision defects have been found (Jacobson et al 1989; Amzallag et al 1990; Hong et al 1994).…”

Section: Discussionsupporting

confidence: 82%

“…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.…”

Section: Discussionsupporting

confidence: 63%

“…However, in one elderly member it was as low as cf 30 cm in both eyes. Such poor visual acuities have also been reported in other families (van Everdingen et al 1992; Jacobson et al 1989; Hong et al 1994). In earlier studies, the visual acuities have mostly been from 0.1 to 0.3 even in older patients, although visual acuities up to 0.8 have been found (Heckenlively & Weleber 1986; Verdoorn & Pinckers 1988; Reichel et al 1989; Brown et al 2000).…”

Section: Discussionsupporting

confidence: 63%

“…Only a few have had the typical macular bull’s eye pattern. 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.…”

Section: Discussionmentioning

confidence: 99%

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

Mäntyjärvi¹,

Nurmenniemi

Partanen

et al. 2001

Acta Ophthalmologica Scandinavica

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ABSTRACT.Purpose: To study a large family with X-linked progressive cone-rod dystrophy. Methods: There were 128 members in the family. Of these, 45 had an ophthalmological examination and 3 gave their permission to use the results of their recent ophthalmological examination. In addition to the usual eye examination, visual fields, colour vision, dark adaptation and electroretinogram (ERG) were examined. Results: Ten affected men aged 6 to 81 years were found in the family. The visual acuities varied from counting fingers (cf) 10 cm to 0.5 in the right eye (RE) and from cf 30 cm to 0.4 in the left eye (LE). The refraction was myopic in all affected members, varying from ª1.5 to ª24.0 D (RE) and from ª2.0 to ª20.25 D (LE). In visual functions, central scotomas and concentric constriction in the visual fields, red or red-green defects in colour vision, abnormal cone and rod dark adaptation and affected cone response in ERG were found. The 6 obligate carriers were aged 17 to 77 years. Their visual acuities varied from 0.05 (strabismic amblyopia) to 1.25(RE) and from 0.7 to 1.25 (LE), and refraction from ∫0 to π6.0 D (RE) and from ª0.5 to π5.0 D (LE). Their visual fields and colour vision were normal. The non-affected men were aged 13 to 55 years, their visual acuity was normal in both eyes, and refraction varied from ª5.0 to π1.5 D (RE) and from ª5.5 to π1.75 (LE). The result of the eye examination was normal except in colour vision: two men were congenitally deuteranomalous. The women who were not obligate carriers were aged 10 to 77 years, their visual acuity was from 0.3 to 1.6 in both eyes, and refraction from ª5.5 to π4.75 (RE) and from ª5.25 to π4.0 (LE). Two women had one amblyopic eye. Otherwise the eye examination was normal. Conclusions:The clinical diagnosis of X-linked cone dystrophy 1 (COD1) is based on progressive loss of visual acuity, moderate or high myopia, red colour vision defect and affected cone response or cone and rod response in ERG. The future identification of the COD1 gene will confirm the diagnosis of the disease and help in genetic counseling of the family.

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Section: Discussionsupporting

confidence: 82%

Section: Discussionsupporting

confidence: 63%

Section: Discussionsupporting

confidence: 63%

Section: Discussionmentioning

confidence: 99%

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

Mäntyjärvi¹,

Nurmenniemi

Partanen

et al. 2001

Acta Ophthalmologica Scandinavica

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“…Previous reports have shown that female carriers of Xlinked COD/CORD usually show either no or minimal fundus changes, 14,27 but cases of heterozygotes displaying macular RPE alterations have been described, 15 and our cohort further expands this phenotypic spectrum, showing the frequent involvement of macular retina (32%; Table), including cases of full COD or CORD expression.…”

Section: Discussionmentioning

confidence: 68%

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in theRPGRGene

Talib

Schooneveld

Cauwenbergh

et al. 2018

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. The purpose of this study was to investigate the phenotype and long-term clinical course of female carriers of RPGR mutations.METHODS. This was a retrospective cohort study of 125 heterozygous RPGR mutation carriers from 49 families.RESULTS. Eighty-three heterozygotes were from retinitis pigmentosa (RP) pedigrees, 37 were from cone-/cone-rod dystrophy (COD/CORD) pedigrees, and 5 heterozygotes were from pedigrees with mixed RP/CORD or unknown diagnosis. Mutations were located in exon 1-14 and in ORF15 in 42 of 125 (34%) and 83 of 125 (66%) subjects, respectively. The mean age at the first examination was 34.4 years (range, 2.1 to 86.0 years). The median follow-up time in heterozygotes with longitudinal data (n ¼ 62) was 12.2 years (range, 1.1 to 52.2 years). Retinal pigmentary changes were present in 73 (58%) individuals. Visual symptoms were reported in 51 (40%) cases. Subjects with both symptoms and pigmentary fundus changes were older than the other heterozygotes (P ¼ 0.01) and had thinner foveal outer retinas (P ¼ 0.006). Complete expression of the RP or CORD phenotype was observed in 29 (23%) heterozygotes, although usually in milder forms than in affected male relatives. Best-corrected visual acuity (BCVA) was <20/40 and <20/400 in at least one eye in 45 of 116 (39%) and 11 of 116 (9%) heterozygotes, respectively. Myopia was observed in 74 of 101 (73%) subjects and was associated with lower BCVA (P ¼ 0.006). Increasing age was associated with lower BCVA (P ¼ 0.002) and decreasing visual field size (P ¼ 0.012; I4e isopter).CONCLUSIONS. RPGR mutations lead to a phenotypic spectrum in female carriers, with myopia as a significantly aggravating factor. Complete disease expression is observed in some individuals, who may benefit from future (gene) therapeutic options.

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Lexikalischer Teil

Witkowski

Prokop

Ullrich³

et al. 2003

Lexikon Der Syndrome Und Fehlbildungen

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X linked progressive cone dystrophy with specific attention to carrier detection.

Cited by 14 publications

References 14 publications

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

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

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in theRPGRGene

Lexikalischer Teil

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