RESUMO
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.
Assuntos
Fóvea Central/anormalidades , Quiasma Óptico/anormalidades , Adolescente , Albinismo Ocular/fisiopatologia , Criança , Pré-Escolar , Potenciais Evocados Visuais , Feminino , Fóvea Central/química , Fóvea Central/fisiopatologia , Humanos , Quiasma Óptico/fisiopatologia , Pigmentos da Retina/análise , Tomografia de Coerência Óptica , Acuidade VisualRESUMO
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.
Assuntos
Cromossomos Humanos Par 12/genética , Cromossomos em Anel , Translocação Genética/genética , Trissomia/diagnóstico , Trissomia/genética , Criança , Aberrações Cromossômicas , Análise Citogenética/métodos , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Hibridização in Situ Fluorescente/métodos , Cariotipagem , Mosaicismo , Fenótipo , Transtornos da Visão/genética , Transtornos da Visão/fisiopatologia , Vias Visuais/fisiopatologiaAssuntos
Efeito Fundador , Proteínas/genética , Degeneração Retiniana/genética , Substituição de Aminoácidos , Proteínas de Transporte , DNA/química , DNA/genética , Análise Mutacional de DNA , Progressão da Doença , Proteínas do Olho , Saúde da Família , Feminino , Variação Genética , Heterozigoto , Histidina/genética , Homozigoto , Humanos , Masculino , Mutação , Países Baixos , Linhagem , Degeneração Retiniana/patologia , Tirosina/genética , cis-trans-IsomerasesRESUMO
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.
Assuntos
Diabetes Mellitus , Perda Auditiva Neurossensorial , Nistagmo Patológico , Obesidade , Retinose Pigmentar , Acantose Nigricans , Adulto , Feminino , Humanos , Lactente , Masculino , Escoliose , SíndromeAssuntos
Distrofias Hereditárias da Córnea/genética , Surdez/genética , Adolescente , Audiometria , Pré-Escolar , Distrofias Hereditárias da Córnea/patologia , Surdez/patologia , Endotélio Corneano/patologia , Feminino , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Humanos , Masculino , Acuidade VisualRESUMO
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.
Assuntos
Deficiência Intelectual/epidemiologia , Atrofias Ópticas Hereditárias/epidemiologia , Anormalidades Múltiplas/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Lactente , Deficiência Intelectual/genética , Masculino , Pessoa de Meia-Idade , Atrofias Ópticas Hereditárias/classificação , Atrofias Ópticas Hereditárias/genética , Fenótipo , Estudos Retrospectivos , Medição de RiscoRESUMO
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.
Assuntos
Vacina contra Sarampo/efeitos adversos , Vacina contra Caxumba/efeitos adversos , Doenças Retinianas/induzido quimicamente , Vacina contra Rubéola/efeitos adversos , T-Linfocitopenia Idiopática CD4-Positiva/complicações , Linfócitos T CD4-Positivos/imunologia , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Imunoglobulina G/imunologia , Sarampo/prevenção & controle , Vacina contra Sarampo-Caxumba-Rubéola , Caxumba/prevenção & controle , Doenças Retinianas/complicações , Doenças Retinianas/diagnóstico , Doenças Retinianas/imunologia , Rubéola (Sarampo Alemão)/prevenção & controle , T-Linfocitopenia Idiopática CD4-Positiva/imunologia , Vacinas Combinadas/efeitos adversos , Acuidade VisualRESUMO
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.
Assuntos
Doenças da Coroide/complicações , Microcefalia/complicações , Doenças Retinianas/complicações , Adulto , Criança , Pré-Escolar , Doenças da Coroide/genética , Doenças da Coroide/patologia , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Masculino , Microcefalia/genética , Microcefalia/patologia , Linhagem , Doenças Retinianas/genética , Doenças Retinianas/patologiaRESUMO
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.
