Choroideremia and gyrate atrophy of the choroid and retina

A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy.

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“…It is well established that gyrate atrophy of the choroid and retina has an autosomal recessive inheritance pattern (11,24,27).…”

Section: Discussionmentioning

confidence: 99%

Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency

1978

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“…The appearance of the fundus as described for patient III-4 ( fig. 2a) may fit the picture of a carrier of ocular albinism but also the picture that has been described by Kurstjens [1965] to be typical for carriers of choroideremia which may also be com bined with a subnormal ERG and EOG. The appearance of the fundus of patient IV-3 is not in accordance with a fundus typical for ocular albinism but may go with choroideremia, choriodal sclerosis or Leber's congenital amaurosis; translucency of the iris has also been described by Esterman [1947] as occurring in choroideremia.…”

Section: Discussionmentioning

confidence: 99%

A Family with a Chorioretinal Disease and Translucency of the Iris

Pinckers¹,

Wr²

1974

Ophthalmologica

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“…Eventually, complete blindness occurs, 30-50 years after the debut (Kurstjens 1965;K h a 1986). A distinct ophthalmoscopical appearance constitutes the principal clinical difference between choroideremia and retinitis pigmentosa, which shows similar visual symptoms.…”

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confidence: 98%

Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients

Rosenberg¹,

Schwartz

1994

Acta Ophthalmologica

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Visual prognosis is a crucial theme in the counselling of individuals affected by a progressive retinal dystrophy. Unfortunately prognostic predictions are hampered by large interindividual differences in disease courses even within well defined nosological entities. Ten patients from 8 families affected by choroideremia were studied. The clinical signs in our patients were rather uniform. Deterioration of the peripheral visual fields typically began in the second decade of life, and progressed during the following one or two decades. Esterman transformation of peripheral visual field measurements was chosen as the best single indicator of visual impairment. Noticeable age differences in residual visual fields among patients were demonstrated. The age difference between the mildest and the severest cases amounted to 25 years. One of the expectations of the exploration of disease genes, is the potential predictive value of mutation identification with regard to phenotypic variability. Different presumed causative mutations were identified. Nevertheless, all the mutations are predicted to cause premature stops during translation, resulting in a non-functional or missing protein. Consequently, the observed age variation in the photopic visual field degradation must be due to still unrecognized factors, either constitutional and/or environmental.

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Choroideremia and gyrate atrophy of the choroid and retina

Cited by 46 publications

References 51 publications

Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency

Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency

A Family with a Chorioretinal Disease and Translucency of the Iris

Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients

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