Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
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Adult↗
Biomedical subjects
F Meire
Publications and source records attributed to F Meire.
Cohen syndrome: the clinical symptoms and stigmata at a young age.
We present the clinical findings and follow-up data of four female children with Cohen syndrome, two sisters and one pair of dizygotic female twins. The most characteristic findings from birth on were as follows: 1. Low-normal growth parameters at birth. 2. Mild hypotonia and evidence of progressive microcephaly with narrow forehead in the first year of life. 3. Neutropenia was present from the beginning, remained unchanged over the years and is not associated with higher susceptibility to infections. 4. Autistic behavior and severe psychomotor retardation up to the age of 2 years. At that age the ocular anomalies with high-grade myopia and chorioretinal dystrophy were diagnosed. Correction of the myopia resulted in a marked catch-up in psychomotor development. 5. After the age of 6 years facial stigmata became more evident with short philtrum of the upper lip and broad and large upper incisors. 6. Tendency to truncular obesity with rest hypotonia and poor muscle development after the ages of 6 to 8 years. The clinical findings and follow-up data in the present four children with Cohen syndrome illustrate that the diagnosis of Cohen syndrome in infancy is very difficult.
Abnormalities, Multiple↗
Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.
X linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterised by decreased visual acuity and disturbance of night vision. CSNBX appears to be not only clinically but also genetically heterogeneous. On studying a single large family, we recently suggested the presence of a distinct locus for CSNBX in Xp21.1. Here, we describe the results of a linkage analysis in another large CSNBX family, which confirms this finding. Thus, the data presented here provide conclusive evidence for a distinct CSNBX locus in Xp21.1, closely linked to the X linked retinitis pigmentosa type 3 gene. The results combined with other published results indicate the order Xpter-DXS451-DMD-DYS1-(DXS1110, CSNBX1, XLRP3)-DXS7-(CSNBX2, XLRP2)-DXS14-Xcen.
DNA↗
Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.
The authors present two patients with Delleman syndrome and one in with possible ECCL. Two boys with Delleman syndrome showed characteristic dysmorphic features with cerebral, ocular and skin malformations. The ocular anomalies consisted of eyelid coloboma, microphthalmia, iris coloboma and epibulbar lypodermoids. A third boy with possible ECCL syndrome had limbal lypodermoids, ectopia pupillae and aberrant iris tissue in the right eye. He showed an ipsilateral focal dermal hypoplastic defect within an area of alopecia of the scalp.
Abnormalities, Multiple↗
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
Blue cone monochromacy is an X-linked condition in which the function of both the red pigment gene (RCP) and the green pigment gene (GCP) is impaired. Blue cone monochromacy can be due to a red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in GCP. We describe here a family with blue cone monochromacy due to the presence of the C203R mutation in both RCP and GCP. The flanking sequences of the C203R mutation in exon 4 of RCP were characteristic for GCP, indicating that this mutation was transferred from GCP into RCP by gene conversion.
Base Sequence↗
Unilateral cytomegalovirus retinitis in a patient with immunoglobulin G2 deficiency.
A benign course of cytomegalovirus (CMV) retinitis is reported in a young patient with selective immunoglobulin G2 (IgG2) deficiency, after corticosteroid treatment for inflammatory pulmonary disease. IgG2 deficiency is a specific disorder of humoral immunity and has little to do with defense against viruses. This case suggests that CMV retinitis can occur in patients with IgG2 deficiency, who have received steroids in a presumedly nonimmunosuppressive dose for associated respiratory disease.
Adenovirus Infections, Human↗
Pseudoglioma: a clinico-pathological report.
The term "pseudoglioma" designates a heterogeneous group of diseases that may be confused clinically with retinoblastoma. The authors report the case of a one year old boy with leucocoria and exotropia of the left eye. Clinical examination disclosed a retrolental whitish vascularized mass. As a retinoblastoma could not be excluded with certainty, the blind eye was enucleated. Pathological examination showed a retinal vascular anomaly compatible with Coats' disease. The authors discuss the differential diagnosis of leucocoria and pseudoglioma.
Diagnosis, Differential↗
Congenital intranasal cyst in dacryocystocele.
The authors present a case of a newborn with bilateral dacryocystocele in whom repeated probing was unsuccessful. An associated intranasal cyst was diagnosed. Using fiberoptic nasal endoscopy, treatment consisted of probing, irrigation and marsupialization of the cyst. This rarely reported anomaly is a more common finding in dacryocystocele than previously recognized. Careful nasal examination in all infants with congenital dacryocystocele is recommended.
Cysts↗
Ocular perforation in utero.
Midtrimester amniocentesis has rarely been reported to cause ocular damage. Findings in the literature include corneal perforation, a vascularized corneal leukoma, a non pigmented epithelial cyst of the anterior chamber, eyelid coloboma, microphthalmos, retinal hole, axial myopia and retinal detachment. We describe the case of a paralimbal scleral perforation with iris prolapse, distortion of the pupil, aphakia due to resorption of the lens and a chorioretinal scar possibly caused by an amniocentesis needle.
Adult↗
Chromosome aberrations in fibrous dysplasia.
We report the cytogenetic findings of two cases of fibrous dysplasia, one occurring in the tibia, the other in the sphenoid. Both cases exhibited only one chromosome change: a t(6;11)(q15;p15) in the first case, a derivative chromosome 2 in the second. The previous cytogenetic report on fibrous dysplasia revealed only numerical changes. The significance of these inconsistent chromosomal findings in fibrous dysplasia is unclear.
Adult↗
DNA carrier detection in X-linked progressive cone dystrophy.
X-linked progressive cone dystrophy (XLPCD) is characterized by progressive macular atrophy, abnormal colour vision, reduced cone responses in ERG, and reduced visual acuity. XLPCD may be genetically heterogeneous. Therefore, carrier detections by DNA analysis may only be carried out in those families in which the position of the gene locus can be clearly established. Here, we describe the first DNA carrier detections in XLPCD.
DNA↗
Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.
The gene for complete congenital stationary night blindness (CSNB1) has been assigned to the Xp11.3 region. However, little evidence has been provided for the assignment of the incomplete congenital stationary night blindness gene (CSNB2). Here we present the clinical and molecular data from a CSNB2 family which show a key recombinant assigning the CSNB2 gene proximal to MAOB.
Chromosome Mapping↗
Ocular anomalies in an unbalanced translocation between chromosomes 7 and 8.
A translocation between chromosomes 7 and 8 was found in several members of a family. We describe two family members with an unbalanced form of this translocation with the derivative of chromosome 7:der(7),t(7;8)(q34;q24.1). Both present multiple congenital systemic anomalies and ocular aberrations. Of those the coloboma of the optic disc is the most obvious. We discuss the pathology of the eyes of one of our patients.
Abnormalities, Multiple↗
Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.
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Belgium↗
Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.
Megalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhäuser syndrome (megalocornea-mental retardation syndrome). Here we report 4 new cases of megalocornea and mental retardation. Those unrelated patients have a consistent pattern of anomalies with possible recessive inheritance which clearly differs from that of the original patients of Neuhäuser et al. [1975]. We discuss the heterogeneity of the syndromes with megalocornea and mental retardation. Based on these cases and on a review of the literature, we suggest a provisional clinically oriented classification in 5 subtypes: (1) a recessive form type Neuhäuser (with iris hypoplasia and minor anomalies), (2) a recessive form type Frank-Temtamy (with camptodactyly, scoliosis and growth retardation), (3) a recessive type 3, including our 4 personal cases (with normal irides, severe hypotonia, relative or absolute macrocephaly and minor anomalies), (4) a possible Frydman type (with normal irides, megalencephaly and obesity), and (5) provisionally unclassifiable cases.
Abnormalities, Multiple↗
Osteoporosis-pseudoglioma syndrome.
Two patients with osteoporosis pseudoglioma syndrome are described. Both are single children, born to nonconsanguineous, healthy parents. The first patient, a 17-year-old girl, had serious visual impairment since birth. She is severely dwarfed and has major skeletal deformities resulting in inability to walk since age 2 years. The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. The clinical and radiological findings in these 2 patients reflect the clinical variability of the condition. Results of collagen studies in both patients are normal and differentiate this condition clearly from severe osteogenesis imperfecta, which it resembles.
Adolescent↗
Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3.
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Chromosome Mapping↗
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↗