ABSTRACT
BACKGROUND/AIMS: To present the ophthalmological and electrophysiological characteristics of three darkly pigmented, female patients with misrouting and foveal hypoplasia. One of the patients had primary ciliary dyskinesia and situs inversus totalis (Kartagener syndrome). METHODS: Fundus photographs were taken and the angles at which the main temporal arterial branches leave the optic nerve head (ONH) were analysed. Optical coherence tomography (OCT) was performed through the presumed foveal region. Pattern onset visually evoked potentials (VEPs) (check sizes 60', 40/400 ms) were recorded and the chiasmal coefficient was calculated to detect misrouting. RESULTS: Fundus photography showed normally pigmented fundi with absence of the usual foveal hyperpigmentation, foveal avascular zone, and macular and foveal reflexes. On OCT no foveal pit was found. The VEP recordings showed the largest positive CI component over the right hemisphere for the left eye, and over the left hemisphere for the right eye, with the CI almost absent over the ipsilateral hemispheres. The differential derivations showed opposite polarity for the recordings of the two eyes. The chiasmal coefficients of all three patients were significantly indicative of misrouting (-0.99, -0.91, and -0.99, respectively). CONCLUSION: Based on the investigations in these patients the authors propose the hypothesis that foveal hypoplasia and misrouting exist as a distinct entity, and do not comprise the exclusive hallmark of albinism. The findings suggest that misrouting may exert a retrograde influence on foveal development.
Subject(s)
Fovea Centralis/abnormalities , Optic Chiasm/abnormalities , Adolescent , Albinism, Ocular/physiopathology , Child , Child, Preschool , Evoked Potentials, Visual , Female , Fovea Centralis/chemistry , Fovea Centralis/physiopathology , Humans , Optic Chiasm/physiopathology , Retinal Pigments/analysis , Tomography, Optical Coherence , Visual AcuityABSTRACT
Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome: We report on a girl with a mosaic karyotype containing a supernumerary ring chromosome. Fluorescence in situ hybridization (FISH) studies showed that this marker chromosome was derived from chromosome 12, resulting in partial trisomy 12p13.1-->12q11. The girl showed developmental delay, cerebral visual impairment, obesity and mild dysmorphic features. Her clinical data at 6 months, 3 years, and 6 years of age were compared with the clinical data on other trisomy 12p patients.
Subject(s)
Chromosomes, Human, Pair 12/genetics , Ring Chromosomes , Translocation, Genetic/genetics , Trisomy/diagnosis , Trisomy/genetics , Child , Chromosome Aberrations , Cytogenetic Analysis/methods , Developmental Disabilities/genetics , Female , Humans , In Situ Hybridization, Fluorescence/methods , Karyotyping , Mosaicism , Phenotype , Vision Disorders/genetics , Vision Disorders/physiopathology , Visual Pathways/physiopathologySubject(s)
Founder Effect , Proteins/genetics , Retinal Degeneration/genetics , Amino Acid Substitution , Carrier Proteins , DNA/chemistry , DNA/genetics , DNA Mutational Analysis , Disease Progression , Eye Proteins , Family Health , Female , Genetic Variation , Heterozygote , Histidine/genetics , Homozygote , Humans , Male , Mutation , Netherlands , Pedigree , Retinal Degeneration/pathology , Tyrosine/genetics , cis-trans-IsomerasesABSTRACT
The Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, diabetes mellitus, sensorineural deafness and obesity. A normal intelligence is often present. We report 9 patients.
Subject(s)
Diabetes Mellitus , Hearing Loss, Sensorineural , Nystagmus, Pathologic , Obesity , Retinitis Pigmentosa , Acanthosis Nigricans , Adult , Female , Humans , Infant , Male , Scoliosis , SyndromeSubject(s)
Corneal Dystrophies, Hereditary/genetics , Deafness/genetics , Adolescent , Audiometry , Child, Preschool , Corneal Dystrophies, Hereditary/pathology , Deafness/pathology , Endothelium, Corneal/pathology , Female , Hearing Loss, Sensorineural/genetics , Hearing Loss, Sensorineural/pathology , Humans , Male , Visual AcuityABSTRACT
A group of 229 patients with Leber's congenital amaurosis (ACL) was investigated for associated defects. We especially looked for the occurrence of mental retardation because the literature gives varying frequencies for this association. A percentage of 19.8% was found. This finding has consequences for genetic counseling. Special attention was given to how frequently sibling pairs occurred in which one patient was mentally retarded whereas the other functioned normally. We found 11 sibling pairs that were discordant with regard to their mental state. This observation proves that mental retardation could be one variable expression of ACL.
Subject(s)
Intellectual Disability/epidemiology , Optic Atrophies, Hereditary/epidemiology , Abnormalities, Multiple/epidemiology , Adolescent , Adult , Child , Child, Preschool , Comorbidity , Female , Humans , Infant , Intellectual Disability/genetics , Male , Middle Aged , Optic Atrophies, Hereditary/classification , Optic Atrophies, Hereditary/genetics , Phenotype , Retrospective Studies , Risk AssessmentABSTRACT
We describe a 4-year-old girl with subnormal visual acuity due to a bilateral retinopathy. The child had a history of encephalitis following MMR vaccination. Temporary retinopathy associated with measles, mumps, and rubella (MMR) vaccination has been described. Recently an idiopathic CD4+ T lymphocytopenia in the child was diagnosed. This cellular immunodeficiency supports our hypothesis of measles retinopathy after vaccination of an immuno-deficient child.
Subject(s)
Measles Vaccine/adverse effects , Mumps Vaccine/adverse effects , Retinal Diseases/chemically induced , Rubella Vaccine/adverse effects , T-Lymphocytopenia, Idiopathic CD4-Positive/complications , CD4-Positive T-Lymphocytes/immunology , Child, Preschool , Diagnosis, Differential , Female , Humans , Immunoglobulin G/immunology , Measles/prevention & control , Measles-Mumps-Rubella Vaccine , Mumps/prevention & control , Retinal Diseases/complications , Retinal Diseases/diagnosis , Retinal Diseases/immunology , Rubella/prevention & control , T-Lymphocytopenia, Idiopathic CD4-Positive/immunology , Vaccines, Combined/adverse effects , Visual AcuityABSTRACT
This is a report of seven new cases of microcephaly with chorioretinopathy. Three cases were sporadic and four were dominant: a father and son, and a father and daughter. Their ophthalmological, neurological, and systemic findings are discussed as are the genetics of the syndrome. Chorioretinopathy with characteristic punched-out lesions was observed in both entities. Body height emerges as a possible distinguishing feature between the dominant and recessive forms. In addition, locomotor disturbances are more frequently seen in patients with the recessive form.
Subject(s)
Choroid Diseases/complications , Microcephaly/complications , Retinal Diseases/complications , Adult , Child , Child, Preschool , Choroid Diseases/genetics , Choroid Diseases/pathology , Female , Fluorescein Angiography , Fundus Oculi , Humans , Male , Microcephaly/genetics , Microcephaly/pathology , Pedigree , Retinal Diseases/genetics , Retinal Diseases/pathologyABSTRACT
A 59-year-old farmer developed a bilateral optic neuritis in the course of an infection with Coxiella burnetii (Q fever), resulting in a lasting unilateral blindness. A complete medical (including neurological) evaluation gave no evidence of other possible causes. A possible source of infection was cattle.
