Biomedical subjects

C Candaele

Publications and source records attributed to C Candaele.

4 recordsLinked to original sources

PubMed1995

Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations.

Neurological abnormalities have been occasionally associated with Leber's hereditary optic neuropathy (LHON). We describe four patients with spastic dystonia from two of our 35 LHON families. Magnetic resonance imaging revealed signal alterations of globus pallidus, putamen, internal capsula, and substantia nigra. Neuropathological findings in one of the patients with dystonia are described. Each of the dystonia families carries a different mtDNA mutation; one at np 3460 and one at np 11778. Periventricular multiple sclerosis-like white matter lesions were observed in one individual from a third family with the mtDNA 3460 mutation. Neurological disorders are probably underestimated in association with LHON.

Adolescent↗

PubMed1995

Choroidal biopsy in the diagnosis of a suspect intraocular lesions.

A thirty-eight year-old man, treated medically since 1985 for a chronic pancreatitis, showed a choroidal infiltrate in the superior mid periphery of the left fundus. A thorough systemic examination could not reveal an underlying cause. The differential diagnosis of the lesion included metastasis, intraocular lymphoma and sarcoidosis. Two months later the lesion had increased both on fundoscopy and echography and was accompanied by a serous macular detachment. A choroidal biopsy showed a moderately well differentiated mucinous adenocarcinoma. The primary site could not be determined. The mucinous character is rather suggestive for a gastrointestinal origin. Gastro intestinal choroidal metastases, and more specifically the pancreatic ones, are however rare.

Adenocarcinoma↗

PubMed1994

Clinical and genetical manifestations in 34 families with Leber's hereditary optic neuropathy (LHON).

The clinical and genetical manifestations of 64 patients of 34 families with LHON, taken up in an ophthalmogenetic register for LHON, are discussed. The disorder appeared to occur sporadically in 41.2% of the patients. Genotypic characteristics of the pedigrees revealed the 11778 mutation in 57.5% of the families, the 3460 mutation in 21.2% and the 15257 mutation in 9.1%. One family carried only a secondary mutation pattern. Fourteen percent of patients with the 11778 mutation showed recovery of their visual acuity. Visual recovery with the 3460 and 15257 mutation was respectively 21% and 33%. Our youngest patient was 4 years old.

Adolescent↗

PubMed1993

Congenital ectropion uveae with glaucoma.

Congenital ectropion uveae (CEU) is a rare, non progressive anomaly characterised by the presence of iris pigment epithelium on the anterior surface, an anterior iris insertion, dysgenesis of the drainage angle and glaucoma. The condition is characteristically unilateral and rarely hereditary. The current theory of development arrest is discussed. We report three cases with CEU of which two already developed glaucoma. All patients with CEU should be carefully examined periodically to detect glaucoma.

Child↗