X-linked cone dystrophy

Verdoorn, Cornelis; Pinckers, A.

doi:10.1007/bf00154453

Cited by 9 publications

(5 citation statements)

References 7 publications

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“…Conse-quently, the results presented here provide evidence for genetic heterogeneity in XLPCD. This confirms the statement of Verdoorn and Pinckers (1988), who put forward the possible existence of more than one type of Xlinked cone dystrophy. The clinical differences observed in XLPCD may reflect an equally heterogeneous situation at the molecular level.…”

Section: Discussionsupporting

confidence: 89%

“…Introduction X-linked progressive cone dystrophy (XLPCD) is a hereditary eye disease characterized by photophobia, nystagmus, loss of visual acuity, abnormal color vision, and disturbed cone electroretinogram (ERG) ; Verdoorn and Pinckers 1988;Pinckers and Deutman 1987). Eight families apparently segregating XLPCD have been reported elsewhere (Fleischman and O'Donnell 1981;Heckenlively and Weleber 1986;Verdoorn and Pinckers 1988;Jacobson et al 1989;Reichel et al 1989; Keunen et al 1990; Meire et al 1994). According to these studies, subtle phenotypic differences exist between families segregating this disorder.…”

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confidence: 99%

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Localization of a Novel X-Linked Progressive Cone Dystrophy Gene to Xq27: Evidence for Genetic Heterogeneity

Bergen¹,

Pinckers²

1997

The American Journal of Human Genetics

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Clinical reexamination and DNA linkage analysis were carried out in an X-linked progressive cone dystrophy (XLPCD) family, previously described by Pinckers and Timmerman in 1981. In a large pedigree segregating XLPCD, by use of > or = 27 markers spanning the entire X chromosome, a novel locus for XLPCD was identified in Xq27. All other regions on the chromosome could be excluded. Since this novel locus is distinct from previously identified genes or regions involved in XLPCD, we further establish genetic heterogeneity underlying this disease entity.

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Section: Discussionsupporting

confidence: 89%

mentioning

confidence: 99%

Localization of a Novel X-Linked Progressive Cone Dystrophy Gene to Xq27: Evidence for Genetic Heterogeneity

Bergen¹,

Pinckers²

1997

The American Journal of Human Genetics

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“…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: Discussionmentioning

confidence: 82%

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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“…Five had affected male offs] while the son and daughter and five grani dren of the oldest daughter were not aff; We identified 22 male patients (includin who died before 1984) and 54 obligate cai After informed consent was obtainec family members were seen at their I where ophthalmoscopy and visual acuit colour vision testing were performed. included 17 it this must linked ie had pring, dchilected. g five chance of being a carrier).…”

Section: Family Studymentioning

confidence: 99%

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

Everdingen

Went

Keunen

et al. 1992

Journal of Medical Genetics

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We investigated 111 members of a five generation family with X linked cone dystrophy. The patients showed the characteristic picture of cone dystrophy. Routine ophthalmological examination of the carrier women showed no abnormalities. However, with detailed colour vision testing we were able to detect 87% of all obligate carriers.The characteristic clinical picture of a cone dystrophy includes photophobia, day blindness, progressive visual deterioration, and colour vision disturbances that precede fundus alterations. '4 Cone dystrophies are usually thought to occur sporadically, but examples of autosomal dominant,37 recessive,8 and sex linked inheritance910 have also been published. We report here a large family with an X linked cone dystrophy which appears to be different from previously published cases, notably the observation that a great majority of obligatory carriers are recognisable with the help of a Nagel anomaloscope and foveal densitometry.

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X-linked cone dystrophy

Cited by 9 publications

References 7 publications

Localization of a Novel X-Linked Progressive Cone Dystrophy Gene to Xq27: Evidence for Genetic Heterogeneity

Localization of a Novel X-Linked Progressive Cone Dystrophy Gene to Xq27: Evidence for Genetic Heterogeneity

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

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

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