[Presently there is no effective treatment for retinitis pigmentosa].
Explore the source record for details and available documents.
Humans↗
Biomedical subjects
J Grøndahl
Publications and source records attributed to J Grøndahl.
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.
Retinitis pigmentosa was diagnosed in 101 persons from 53 families. The prognosis for visual function was most favourable for the autosomal dominant group (38 patients from 8 families). The autosomal recessive group (40 patients from 25 families) and the 19 solitary cases were very heterogeneous, with prognosis ranging from favourable to very bad. There was a higher intrafamiliar correlation in the autosomal recessive than in the autosomal dominant group. In 28 patients from 18 families with Usher syndrome, almost all had good visual function until 30 years of age, and few had useful visual function after the age of 50. The age when the patients were registered varied between the different genetic types of retinitis pigmentosa, reflecting differences in prognosis. Therefore, ascertainment probability and prevalence were calculated for each genetic group separately. The prevalence of retinitis pigmentosa in Norway, all genetic groups included, was calculated to be 1/4440, the autosomal dominant type of the disease being the most frequent. The prevalence of Usher syndrome was calculated to be 3.6/100,000. Both retinitis pigmentosa and Usher syndrome were more prevalent in Laps.
Adolescent↗
Pericentral retinal dystrophy.
A diagnosis of pericentral retinal dystrophy was made in 28 patients from four families, all living in North Norway. Patients from two and three generations were examined, establishing the relatively benign but progressive course of the disease. The advanced stage of pericentral retinal dystrophy could not be differentiated from the advanced stage of 'classical' retinitis pigmentosa. Three families demonstrated an autosomal dominant pattern of inheritance. In one family the mode of inheritance probably was autosomal recessive. Fluorescein angiography in the initial stage of the disease was normal, without evidence of pathological changes in the pigment epithelium or choroidal vessels, indicating that the pathological process may start in the photoreceptors.
Adolescent↗
Autosomal recessive inheritance in 'senile' retinitis pigmentosa.
A Norwegian family is reported in which two sisters and one brother all had retinitis pigmentosa with unusually late onset of clinical symptoms. The proband was a 64 year old woman who had experienced progressive visual field defect since the age of 57. She had near normal dark adaptation and an extinguished electroretinogram. Her affected sister, 61 years old, and her brother, aged 57, had no or mild subjective symptoms, respectively. Fundus photographs and the results of electrophysiological tests, together with family data indicating autosomal recessive inheritance, are presented.
Adaptation, Ocular↗
Usher syndrome in four Norwegian counties.
Among 89 probands selected for tapeto-retinal degeneration, 18 (20%) were given the diagnosis of Usher syndrome. Among the relatives of the probands another 10 cases of Usher syndrome were found. The distribution on type diagnoses was: Usher syndrome type I: 14 cases, type II: 10 cases and type III: four cases. The pattern of inheritance was autosomal recessive for 12 families, and the remaining six probands were solitary cases without consanguinity between the parents. There was a high intrafamiliar correlation with respect to hearing function, indicating genetic heterogeneity in Usher syndrome. Obligate heterozygotes did not demonstrate heterozygote manifestation. One man with Usher syndrome type I was psychotic, the remaining 27 did not demonstrate serious psychic disturbances. Atactic gait was not observed, though vestibular response was abolished in three patients with Usher syndrome type I. Three patients with type II and one person with type III had normal vestibular response. The prognosis for visual function was not highly correlated to the type diagnosis or to the age when hemeralopia was first noticed. Visual function was good before 30 years of age and bad in most patients after the age of 50.
Adolescent↗
Tapeto-retinal degeneration in four Norwegian counties, I. Diagnostic evaluation of 89 probands.
An attempt was made to trace all cases of tapeto-retinal degeneration in Norway. Four counties (fylker) were selected for personal examination of probands with a diagnosis of unspecified tapeto-retinal degeneration, retinitis pigmentosa, or Usher syndrome. The examinations led to the rejection of the diagnosis of tapeto-retinal degeneration in three persons, and in another four persons a diagnosis of choroidal dystrophy was made. The specific type diagnosis was adjusted in 26 additional persons. The results indicate that in Norway the diagnosis of retinitis pigmentosa may be made too frequently. Patients with Usher syndrome, choroideremia or cone-rod dystrophy are most often given the diagnosis of retinitis pigmentosa. Retinitis pigmentosa of pericentral type is in general not specified, and the diagnosis of tapeto-retinal degeneration without specified type diagnosis and retinitis pigmentosa are sometimes intermingled.
Adolescent↗
Tapeto-retinal degeneration in four Norwegian counties, II. Diagnostic evaluation of 407 relatives and genetic evaluation of 87 families.
In four Norwegian counties (fylker) 89 probands with tapeto-retinal degeneration have been traced and examined by the author. 407 of their nearest relatives (mostly first degree relatives) were also examined. A total of 63 of the relatives were found to be affected, of whom 42 had not been registered previously. After completion of the examinations the mode of inheritance differed from that previously estimated in 50% of the families. Of the 48 families with "classical" retinitis pigmentosa, 8% showed autosomal dominant, 50% autosomal recessive and 2% X-linked recessive inheritance. The remaining 40% were families with solitary cases without consanguinity between the parents of the affected person. Of five families with retinitis pigmentosa of pericentral type, four demonstrated an autosomal dominant pattern of inheritance.
Adolescent↗