The end stage of birdshot retinochoroidopathy.
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Aged↗
Biomedical subjects
M J Van Schooneveld
Publications and source records attributed to M J Van Schooneveld.
The Peters'-Plus syndrome: description of 16 patients and review of the literature.
Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and developmental retardation. We report the follow-up of six patients in the original report, 10 yet unreported patients, and review 26 patients that have been reported in the literature. The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of anterior chamber cleavage disorders may be present, a cleft lip or palate need not be present, and developmental retardation may be mild or even absent. An increased foetal loss in families with Peters'-Plus syndrome may indicate intrauterine death of some foetuses affected by the syndrome. The pattern of inheritance is autosomal recessive.
Abnormalities, Multiple↗
Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.
Mitochondrial DNA isolated from white blood cells was investigated in families suffering from Leber's hereditary optic neuropathy. A recently described mutation at nucleotide position 11778 was present in 5 out of 12 families and heteroplasmic mitochondrial DNA was observed in 2 of these 5 families. A rapid shift in genotype was found in one of the families with heteroplasmy: the grandmother had 60 percent mitochondrial DNA mutated at nucleotide position 11778, the mother 55 percent, and the two sons at least 95 percent. These data indicate that the number of mitochondrial DNA molecules transmitted to the progeny passes a developmental bottleneck, as previously proposed to occur in bovine oogenesis.
DNA, Mitochondrial↗
The corneal dystrophy of Waardenburg and Jonkers.
The dystrophy in 1961 described by Waardenburg and Jonkers in considered in the literature as a separate dystrophy by some authors and as an atypical form of granular dystrophy by others. That it is in fact the first description of, and synonymous with, the honeycomb dystrophy (Thiel and Behnke), in the English-language literature usually called Reis-Bücklers' dystrophy, was proven by reinvestigation of the family concerned.
Cornea↗
Rieger's eye anomaly and persistent hyperplastic primary vitreous.
The authors present a Turkish family (two generations, five affected persons) with symptoms of Rieger's eye anomaly as well as Persistent Hyperplastic Primary Vitreous (PHPV). Although Rieger's anomaly has been described in combination with other conditions, according to their knowledge a familial combination of Rieger's anomaly and PHPV has never been described before. Only once an isolated case with the combination of an anterior chamber cleavage malformation and bilateral PHPV has been described. The authors suggest two possible explanations for the coexistence of PHPV and Rieger's eye anomaly. It is feasible that we are dealing with symptoms until yet not diagnosed within the anomaly of Rieger. Another possibility is that there is a linkage between the genes for PHPV and Rieger's anomaly and as a consequence they are inherited together in this family.
Adolescent↗
A new autosomal dominant vascular retinopathy syndrome.
We describe a new syndrome with autosomal dominant transmission whose most striking feature is vascular retinopathy. The retinopathy is often associated with migraine, Raynaud's phenomenon and mental changes, mainly forgetfulness, aggression and depression. To define this syndrome we collected medical data on 110 family members. General ophthalmological examination and fluorescein angiography were performed in 61 persons. The retinopathy, as diagnosed in 22 persons, is characterized by central and peripheral microangiopathy, areas of capillary non-perfusion, haemorrhages, cotton wool spots and, in a more advanced stage, occlusion of large retinal vessels, which can induce a neovascular response. A vascular occlusive disorder may be the common aetiological factor of the various manifestation of this syndrome.
Adult↗