RESUMO
A patient with ring chromosome 6 had most of the manifestations previously reported in this syndrome and also had albinoid fundi and unilateral aniridia, findings not previously described. In most peripheral leukocyte metaphases analyzed, one chromosome 6 was replaced by a monocentric ring chromosome with deletion of the 6p and 6q. Fifteen other patients with a ring chromosome 6 have been reported. The most frequent findings were mental retardation, prenatal and postnatal failure, epicanthal folds, flat nasal bridge, short neck, apparently low-set and/or malformed ears, microphthalmia, and micrognathia. Studies of coagulation Factors XII and XIII and of the P blood group for possible assignment on distal 6p and 6q did not provide evidence for localization of the genes for these factors on the pter----p24 part of chromosome 6.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 6 , Fundo de Olho/anormalidades , Iris/anormalidades , Cromossomos em Anel , Fator XII/genética , Fator XIII/genética , Humanos , Lactente , Deficiência Intelectual/genética , Masculino , Sistema do Grupo Sanguíneo P/genéticaRESUMO
A 42-year-old woman had morning glory syndrome of the fundus of the right eye. The finding was related to chronic simple glaucoma and without pulsation of the staphyloma. The clinical symptoms and echographic pattern during the endocular hypertensive phase with normal intraocular pressure was studied after appropriate medication. This associated disease is attributed to the presence of a congenital malformation of the anterior chamber angle.
Assuntos
Fundo de Olho/anormalidades , Glaucoma/complicações , Cristalino/anormalidades , Adulto , Feminino , Humanos , Pressão IntraocularRESUMO
A single-flash ERG and an EOG were performed in four cases of fundus heterotopicus. While the EOG responses showed a normal light and dark adaptation, the ERG registered a subnormal a- and b-wave, corresponding to the extent of the medial ectasia. Where hemeralopia was present, the ERG showed a monophasic a-wave and a markedly reduced b-wave. That means that in addition to the simple fundus heterotopicus, there is also a form with several clinical characteristics in which a hemeralopia is adaptometrically and electroretinographically demonstrable.
Assuntos
Fundo de Olho/anormalidades , Adaptação Ocular , Anormalidades Congênitas/diagnóstico , Diagnóstico Diferencial , Eletroculografia , Eletrorretinografia , Feminino , Humanos , Masculino , Linhagem , Transtornos da Visão/complicações , Transtornos da Visão/diagnóstico , Transtornos da Visão/genéticaRESUMO
Fundus heterotopicus is the term used to describe a rare, non-hereditary curvature anomaly of the fundus in the non-myopic eye, which is characterized: 1. functionally, by a slowly increasing myopic-astigmatic refractive error, 2. by correctable bitemporal or binasal refractionscomata and 3. ophthalmoscopically by a posterior out-pouching of the nasal or temporal fundus portions, and including the optic disc and macula in the obliquely descending wall of the extasis.
