scholarly journals Coloboma of the Iris

2020 ◽  
Author(s):  
Keyword(s):  
Coloboma Of The Iris

Diskordanzursachen bei erbgleichen Zwillingen

1952 ◽  
Vol 1 (1) ◽  
pp. 89-102 ◽  
Author(s):  
Hans Grebe
Keyword(s):  
Twin Pair ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Intrauterine Life ◽  
Monozygotic Twin Pair ◽  
Coloboma Of The Iris

This article discusses the major differences which can be fuond from time to time in homozygotic twins. In some instances there may be differences in manifestation, as in the case of a pair of monozygotic twins, aged 12, with concordant dysplasia of the hipjoint but with different radiological pictures. Differences may also be due to particular incidents during intrauterine life, alterations in growth resulting from hormonal disturbances etc. In some cases the cause of the differences is not known and, as an example, the author cites a monozygotic twin-pair aged 10, one member of which is much retarded in growth while the co-twin suffers from coloboma of the iris.

Mild Noonan phenotype associated with coloboma of the iris and choroid

2002 ◽  
Vol 11 (1) ◽  
pp. 75-77 ◽  
Author(s):  
Claus H??jbjerg Gravholt ◽  
Mette Warburg ◽  
Ursula Friedrich
Keyword(s):  
Coloboma Of The Iris

scholarly journals Neurological findings of a patient with Patau syndrome and a nonusual clinical presentation

2021 ◽  
Author(s):  
Bruno Custódio Silva ◽  
Maria Isabelle Nakano Vieira ◽  
Gisele Delazeri ◽  
Esther Rodrigues Rocha Alves ◽  
Ana Luíza Kolling Konopka ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Clinical Presentation ◽  
Point Of View ◽  
Poor Survival ◽  
Normal Delivery ◽  
Chromosome 13 ◽  
Neurological Findings ◽  
Patau Syndrome ◽  
Cleft Lip Palate ◽  
Coloboma Of The Iris

Context: Chromosome 13 trisomy, or Patau syndrome (PS), is a genetic condition characterized by multiple findings and usually poor survival rate. However, its clinical presentation can be variable. Case report: A male patient was referred for evaluation due to a syndromic aspect. He was born by normal delivery, at term, weighing 4700 g. On physical exam, at 2 months, two areas of scaly aplasia on the scalp were shown as well as left coloboma of the iris, bulbous nose with small nostrils, ears with oversized helices, micrognathia, umbilical hernia, clinodactyly of the index finger of the hand left and the 4th and 5th toes of the left foot. Echocardiography revealed tetralogy of Fallot. The karyotype showed a free trisomy of chromosome 13 (47, XY, + 13), compatible with the diagnosis of PS. The patient died at 9 months of age due to complications from bronchopneumonia and had evolved with a delay in neuropsychomotor development at that moment. Conclusions: There are findings that stand out among patients with PS and that very often lead to diagnosis, such as micro/anophthalmia, bilateral cleft lip/palate and polydactyly. It is interesting in our case that the patient did not have any of them, which made it difficult to identify. In addition, from a neurological point of view, the findings were quite common; however, in our patient, there was only a delay in neuropsychomotor development, pointing out that the neurological findings can also be quite variable.

Coloboma of the Iris

1898 ◽  
Vol 116 (1) ◽  
pp. 109
Author(s):  
Angus McGillivray
Keyword(s):  
Coloboma Of The Iris

scholarly journals The Capsular Complications of Cataract Extraction

1948 ◽  
Vol 41 (5) ◽  
pp. 271-280
Author(s):  
Charles Goulden
Keyword(s):  
New York ◽  
Fibrous Tissue ◽  
Cataract Extraction ◽  
Traumatic Cataract ◽  
Corneal Incision ◽  
Conjunctival Flap ◽  
Occasional Occurrence ◽  
Time Of Operation ◽  
Coloboma Of The Iris ◽  
Made In

The author considered the following important points: (1) Anterior capsular synechia to a corneal incision (made by a keratome) after the evacuation of a traumatic cataract. This might be detached early by the use of a blunt-ended knife following a perforation of the cornea with a sharp-pointed knife, much like a tenotome. (2) The involuntary prolapse of capsule with a cataract incision. ( a) The danger of this was demonstrated as the cause of glaucoma, especially if it be found necessary to divide opaque capsular membrane after the extraction. ( b) The danger of sympathetic ophthalmia. Prolapse might be prevented: ( a) By intracapsular extraction. ( b) By extracting the lens through an intact pupil, after the use of capsule forceps, followed either by a partial or total iridectomy. (3) The treatment of opaque after-cataract. Various types of opaque capsule membrane were described. ( a) Opaque lens fibres imprisoned between anterior and posterior remains of capsule. ( b) Grey membrane made of new lens fibres from proliferating subcapsular cells. ( c) Elschnig's cells. ( d) Much thickened capsular membrane following an extensive hæmorrhage into the anterior chamber occurring about the fifth day after extraction. ( e) A thick membrane formed of fibrous tissue following the invasion of the coloboma of the iris after infection at the time of operation. The fibrous tissue comes from the undersurface of the conjunctival flap and causes an updrawn coloboma which is also made narrower by its contraction. When performing a capsulotomy thickened bands should be avoided and an incision made in thin capsule, parallel to thick bands. If the membrane is very thick and shows signs of being torn from its peripheral attachment when a single needle is used, then (1) Two needles may be used after the method of Bowman; (2) A Wheeler operation may be performed (Wheeler, 1939, Collected Papers, New York, 197); (3) Thick capsule may be divided by means of a Ziegler knife, as described by the author, but not in the manner described by Ziegler. The danger of performing a capsulotomy in the presence of soft lens matter was pointed out. The occasional occurrence of localized vitreous opacification at the site of a capsulotomy, even in the absence of iridocyclitis, was mentioned.

Familienbefunde bei Letalen Herzmissbildungen

1956 ◽  
Vol 5 (S1) ◽  
pp. 257-293
Author(s):  
Hans Grebe
Keyword(s):  
Cleft Palate ◽  
Clinical Symptoms ◽  
Heart Diseases ◽  
Ductus Arteriosus ◽  
Differential Forms ◽  
The Other ◽  
Foramen Ovale ◽  
Dominant Inheritance ◽  
Severe Stenosis ◽  
Coloboma Of The Iris

SUMMARYReport about examinations in the families of 24 children with severe, lethal malformations of the heart. At all probands, who had died before 6th month of life, the, cause of death could be insured by autopsy.Under 16 children with lethal defects of the septum 6 suffered from mongolism (additional one with enterocystom of oesophagus, one with double inguinal rupture, one with cleft palate and one with microcephaly and atresia of the duodenum). In none of these families any sign for heredital cause or « ovarial insufficience » of the mother could be found.In the families of 10 children with defect of the septum without additional malformation two times the clinical examinations of the mother showed distinct symptoms of heart decompensation without evidence for acquired heart diseases. In two other families beside the probands other family-members with inborn heart diseases could be found, one time an autoptical proved defect of the septum at a cousin of our probands father.During these families seem to show heredity of lethal defects of the septum in an irregular dominant inheritance, only one time in an «isolated » case of lethal defects of the septum the cause of the malformation may be seen in severe bleedings of the mother during pregnancy.In an earlier report about similiar examinations two siblings could be found, one of them had only a defect of the septum, the other had beside a defect of septum, a severe harelip and cleft palate, a hernia diaphragmatica, a hypoplasia of the fingers and a microcephalia combined with arhinencephalia. The father of another child with a defect of the septum suffered from coloboma of the iris.It is supposed, that there are several gens to septum defects, that means Heterogenie. Polyphenical effects of the gens result differential forms of manifestation, not only at the heart. There were no differences found on homozygotics and heterozygotics.Among 8 children with differential other malformations of the heart (5 cases of severe stenosis of the aorta, 1 case of malformation of the pulmonal valve, 1 case of trasposition of the big arterias) only one time could be found the same anomaly (open foramen ovale, open ductus arteriosus) on two cousins (each of them have an non dissecated brother with equal clinical symptoms). Because the parents were non blood-related also in this family an unregular dominant inheritance of the anomalies at the foramen ovale and the ductus arteriosus seems probable.Systematical examination in families with lethal malformations are further equal necessary as explications of pregnancy harms for exclusion of exogen factors.

The Influence of Lens Antibodies on the Development of Lens Antigen-containing Tissues in the Chick Embryo

Development ◽  
1962 ◽  
Vol 10 (2) ◽  
pp. 178-190
Author(s):  
Jan Langman ◽  
Harry Maisel ◽  
James Squires
Keyword(s):  
Chick Embryo ◽  
Embryonic Development ◽  
Passive Immunization ◽  
Congenital Defects ◽  
Maternal Circulation ◽  
Lens Proteins ◽  
New Born ◽  
Ocular Changes ◽  
Antigen Antibody ◽  
Coloboma Of The Iris

When Guyer & Smith (1918, 1924) subjected pregnant rabbits to active and passive immunization with lens proteins, it was noted that a high percentage of the new-born showed lens anomalies and other ocular changes such as microphthalmia and coloboma of the iris. Though these experiments seem to indicate that antibodies circulating in the maternal circulation may interfere with embryonic development, the results of this work have subsequently been questioned, since neither Finlay (1924), Huxley & Carr-Saunders (1924), nor Flickinger, Levi, & Smith (1955) were able to produce any eye abnormalities with lens antibodies. Recently, it has again been suggested, that tissue antibodies may cause congenital defects based on antigen-antibody interaction in the developing embryo (Brent, Averich, & Drapiewski, 1961; Gluecksohn-Waelsch, 1957; Miller, 1958; Barber, Willis, & Afeman, 1961).

CHROMOSOME STUDIES IN FIVE CASES OF COLOBOMA OF THE IRIS

The Lancet ◽  
1965 ◽  
Vol 285 (7385) ◽  
pp. 576-578 ◽  
Author(s):  
KusumP. Lele ◽  
Tessa Dent ◽  
JoyD.A. Delhanty
Keyword(s):  
Coloboma Of The Iris

Biemond-Syndrom in einer Sippe mit Iriskolobomen, Hüftgelenksdysplasie und Epilepsie

1960 ◽  
Vol 9 (2) ◽  
pp. 197-210 ◽  
Author(s):  
von Hans Grebe
Keyword(s):  
Mental Disorders ◽  
Hip Joint ◽  
Twin Pair ◽  
Family Studies ◽  
Perthes Disease ◽  
Born Child ◽  
The Family ◽  
Arachnoidal Cyst ◽  
The Moment ◽  
Coloboma Of The Iris

SUMMARYThe Author reports on the striking frequency of marked hereditary pathologic anomalies in the family of a proposita suffering from Biemond's Syndrome (diencephalic obesity, debility, neurologic and mental disorders, endocrine troubles, syndactyly of the feet and bilateral coloboma of the iris).In the 173 membres of the family (non including the proposita) the Author found 17 cases of unilateral or bilateral coloboma (6 of whom died blind), 4 cases of iris malformation with atrophy of the stroma, 4 cases of females with serious unilateral or bilateral malformation of the hip-joint, 1 uncertain case of a male with Perthes disease, 4 cases of epilepsy (included a concordant MZ twin-pair), 1 case of a male suffering at the same time from imbecility and underdevelopment, 1 case of a female affected by coloboma, arachnoidal cyst and epileptic convulsions, and, further, some cases of myopia, single cases of strabismus, hyphoscoliosis, lipomatosis, hemolytic icterus and 1 case of a still-born child with atresia recti and hypoplasia of one arm. Besides a case of suicide, some members of the family are supposed to have been somehow « queer ».It is probable that a degree of linkage exists between the genes for coloboma and epilepsy. All other findings, for the moment, may only be recorded. In order to reach some final conclusions other family studies will have to be added to the present one.

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