Biomedical subjects

R Ghenoiu

Publications and source records attributed to R Ghenoiu.

5 recordsLinked to original sources

PubMedDate not supplied

[Pseudodominance in congenital glaucoma].

By studying the genealogical tree of a 3.5-years-old child, on a three generations, we obtained values which have shown that the transmission in congenital glaucoma is sometimes of pseudo-dominant type. The obtained values are in accordance with the values in the medical literature. the percentage of the subjects affected by glaucoma being 66% and the maximum penetrance of the pathological gene. Our observations try to clear up the pseudo-dominant aspect in early congenital glaucoma.

Alleles↗

PubMedDate not supplied

[Late congenital glaucoma and pigmentary retinopathy].

Two clinical observations of pigmentary retinopathy associated with late congenital glaucoma are presented. This associations is rarely emphasized in the literature, the most frequent association being of the pigmentary retinopathy and open angle glaucoma. In the former observation a genetical filiation could not been established. In the latter the heredity was autosomal recessive, with two existent distinct pathological genes. The genetic defect in pigmentary retinopathy with dominant autosomal transmission is supposed to be localized on the codon 216 Ser-->Pro or at the level of the codon 296 by the substitution Lys-->Glu and Lys-->Met for the some determination, but done in vitro. In the recessive form the abnormal alleles are localized in the interval D11 5861 and D11 5899.

Adult↗

PubMedDate not supplied

[The prepapillary venous loop in glaucoma].

58-year-old patient presents open angle glaucoma at both eyes, with bigger intraocular pressure at right eye. This eye presents two epipapillary venous curls, the nasal one being sharper and aplatized. Asymmetrical evolution with bigger intraocular pressure and papillar excavation at this eye presenting venous curls is determined by local modifications in blood elimination. It is discussed the importance of epipapillary venous curls, with retino-ciliary venous decrease in worsening of existent glaucoma.

Ciliary Body↗

PubMedDate not supplied

[Autosomal dominant transmission in retinitis pigmentosa].

The family tree, including 5 generations, of a female patient with typical retinitis pigmentosa has been studied. The transmission was irregular autosomal dominant the gene being manifest for 5 generations both to men and women. The gene penetration was 64%; less than evolution of the illness to bilateral cecity. The case seem to be closely related with the recessive forms of transmission.

Chromosome Aberrations↗

PubMedDate not supplied

[Albuminuric neuroretinopathy in chronic primary glomerulonephritis].

The case of a 23-year-old young patient, which had an impure nephrotic syndrome and chronic glomerulonephritis, is presented. The evolution was to arterial hypertension, azotemia and albuminuria. The symptomatology was dominated by the ocular signs of AHT and albuminuric neuroretinopathy. The physiopathological mechanisms were of immunological type, starting an inflammatory chronic process at the level of renal glomeruli, together with the diminishing of the glomerular filtration and the appearance of a hypertension in the arterial sector, including the ocular area. The exact diagnosis was the result of a good cooperation between the physician and the ophthalmologist.

Adult↗