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Biomedical subjects

V Godel

Publications and source records attributed to V Godel.

At least 55 records · Page 3Linked to original sources
PubMed1981

X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females.

Three unrelated families (two Jewish and one Druze) are reported, in which a total of eight males exhibited the ophthalmological findings of primary retinal dysplasia. Since our affects male members only have eye findings, this disorder is readily differentiated from Norrie's disease in which other parts of the nervous system are involved. The family pedigrees along with the clinical features support an X-linked recessive mode of transmission for this condition. Female carriers for this gene may show varying types of retinal fold changes. In addition, most of these same presumed female carriers also demonstrated changes in the stroma of their irides, resulting in a gray to grayish-blue color. At present, it is not possible to state definitely whether or not this latter observation is a feature of the carrier state.

Adult↗
PubMed1981

Anterior pupillary block.

Two patients with post-operative adhesions between the iris and cornea are presented. The term of anterior pupillary block is suggested, and its clinical picture is described. The irido-corneal adherences appeared to be the trigger mechanism of the intraocular pressure rise and deepening of the posterior chamber. The tension was fully controlled following the rupture of these adherences. The beneficial result of a simple procedure of posterior chamber tape is mentioned.

Adult↗
PubMed1981

Cataracts due to repeated osmotic insults.

The long-term effect of repeated osmotic insults were investigated and the lenticular changes due to hyperosmosis were described. The results of these experiments demonstrated that subsequent hyperosmotic insults to hamster lenses by exposure of the eye and to rabbit lenses by intracameral injection of hypertonic solution did not cause permanent lenticular damages being completely reversible and not harmful.

Animals↗
PubMed1981

Retinal arterial loop occlusion.

A case is described in which a right preretinal arterial loop was complicated by an obstructive episode, producing an altitudinal visual field defect. The mechanism of the occlusion of the retinal vascular loop and the pathogenesis of the associated vitreous hemorrhage are discussed.

Adult↗
PubMed1980

Hereditary renal-retinal dysplasia.

Juvenile nephronophthisis and medullary cystic diseases are inherited kidney disorders leading to end stage uremia. As these diseases appear to be identical, they were grouped together in nephronophthisis-cystic renal medulla complex. Among its extrarenal manifestations, tapeto-retinal degeneration is the most frequent allied condition. This specific association of the renal and retinal conditions, suggesting a genetic background, is called hereditary renal-retinal dysplasia and is transmitted as an autosomal recessive trait. There are some variations in the type of the retinal degeneration in renal-retinal dysplasia and similar basic genetic mechanisms may results in Leber's congenital amaurosis, or retinitis pigmentosa, central retinal degeneration or stationary congenital night blindness. Pleiotropism seems to be responsible for the spectrum of these anomalies. Occasional expression in the heterozygous state by urinary concentrating disabilities or electroretinographic impairments were documented. The nature and pathogenesis of renal-retinal dysplasia remain a debated issue, but some evidence supports the possibility of an inborn error of metabolism causing the basic defects.

Adolescent↗
PubMed1980

Chloramphenicol optic neuropathy.

Three patients with cystic fibrosis of the pancreas initially were seen because of optic neuropathy caused by a toxic reaction to chloramphenicol. The ocular symptoms were characterized by loss of visual acuity, central scotomas, red-green dyschromatopsia, and fundus changes. An increase in the latency of the occipital evoked potentials paralleled the visual impairment. A transient photopic decline in the red-light-elicited electroretinogram and the occurrence of Uhthoff's sign in the acute stage of the disease were observed. All visual impairment recovered partially or totally after the withdrawal of therapy with the drug.

Adolescent↗
PubMed1980

Retinal detachment in median cleft-face syndrome.

A 7-year-old boy had an unusual association of median cleft-face syndrome, a characteristic physiognomy, unilateral retinal dysplasia, and bilateral retinal detachment. Despite surgical treatment to both eyes he became blind. The hereditary pattern operating in this complex disorder was found to be consistent with an autosomal dominant trait.

Child↗
PubMed1980

Sector retinitis pigmentosa in juvenile nephronophthisis.

In a patient with juvenile nephronophthisis, sector retinitis pigmentosa was found as an extrarenal manifestation, establishing a hitherto undescribed variety of retinal degeneration occurring in this disorder. The retinal function in this case was identical with that in the classic type of sector retinitis pigmentosa, namely, subnormal ERG amplitudes but normal cone and rod implicit times. The range of the retinal findings and their autosomal recessive transmission are discussed. Paucity of information makes it difficult to elucidate the basic genetic defect operating in this condition.

Adolescent↗
PubMed1980

Amiodarone keratopathy.

6 cardiac patients were found to present various degrees of corneal involvement following systemic treatment with amiodarone. The clinical pattern of the keratopathy, its benign course and the pathophysiology are discussed. Lacrimal insufficiency or incomplete blinking seem to contribute to the severity of the keratopathy.

Adolescent↗
PubMed1979

Retinal manifestations in familial juvenile nephronophthisis.

Three families affected by juvenile nephronophthisis are described and genetically analyzed. The extrarenal manifestations of the disease include retinal findings such as congenital Leber amaurosis, retinitis pigmentosa and sector retinitis pigmentosa. Autosomal recessive transmission and the wide phenotypic spectrum are discussed. The variability in the retinal findings is explained by the presence of a pleiotropic gene with variable expressivity.

Adolescent↗
PubMed1979

Lipoid proteinosis (Urbach-Wiethe syndrome).

A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.

Adolescent↗