Ricerche sulla ereditarietà dell'idroftalmo e della cataratta congenita in paesi delle Prealpi Orobiche

Gianferrari, Luisa; Cresseri, A; Maltarello, A

doi:10.1017/s1120962300021454

Cited by 11 publications

(6 citation statements)

References 7 publications

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“…74 There are so many studies that support this observation. 68 75 - 78 Moreover, in most of the PCG cases, two or more siblings are affected with normal parents and descendents. 68 74 76 A classical report by Gianferrari and his coinvestigators document two most characteristic pedigrees in which the first consisted of 11 cases of buphthalmos and two consanguineous marriages with three affected children out of four and two out of 12.…”

Section: Primary Congenital Glaucomamentioning

confidence: 99%

“…68 74 76 A classical report by Gianferrari and his coinvestigators document two most characteristic pedigrees in which the first consisted of 11 cases of buphthalmos and two consanguineous marriages with three affected children out of four and two out of 12. 75 And, in case of the other pedigree, there were five cases of congenital glaucoma and two consanguineous marriages with two affected children out of four and one out of six. 75 A peculiar finding in these pedigrees supporting autosomal recessive mode of inheritance is that the parents were phenotypically normal in all these cases.…”

Section: Primary Congenital Glaucomamentioning

confidence: 99%

See 1 more Smart Citation

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma

Faiq¹,

Sharma²,

Dada³

et al. 2013

Journal of Current Glaucoma Practice

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Glaucoma is an irreversible form of optic neuropathy in which the optic nerve suffers damage in a characteristic manner with optic nerve cupping and retinal ganglion cell death. Primary congenital glaucoma (PCG) is an idiopathic irreversible childhood blinding disorder which manifests at birth or within the first year of life. PCG presents with a classical triad of symptoms (viz epiphora, photophobia and blepharospasm) though there are many additional symptoms, including large eye ball and hazy cornea. The only anatomical anomaly found in PCG is trabecular meshwork (TM) dysgenesis. PCG is an inheritable disease with established genetic etiology. It transmits through autosomal recessive mode. A number of cases are sporadic also. Mutations in many genes have been found to be causative in PCG and many are yet to be found. Mutations in cytochrome P4501B1 (CYP1B1) gene have been found to be the predominant cause of PCG. Other genes that have been implicated in PCG etiology are myocilin, Forkhead-related transcription factor C1 (FOXC1) and latent transforming growth factor beta-binding protein 2 (LTBP2). Mutations in these genes have been reported from many parts of the world. In addition to this, mitochondrial genome mutations are also thought to be involved in its pathogenesis. There appears to be some mechanism involving more than one genetic factor. In this review, we will discuss the various clinical, biochemical and genetic aspects of PCG. We emphasize that etiology of PCG does not lie in a single gene or genetic factor. Research needs to be oriented into a direction where gene-gene interactions, ocular embryology, ophthalmic metabolism and systemic oxidative status need to be studied in order to understand this disorder. We also accentuate the need for ophthalmic genetic facilities in all ophthalmology setups.

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Section: Primary Congenital Glaucomamentioning

confidence: 99%

Section: Primary Congenital Glaucomamentioning

confidence: 99%

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma

Faiq¹,

Sharma²,

Dada³

et al. 2013

Journal of Current Glaucoma Practice

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“…An example is consanguineous marriages which have lead to a great increase in prevalence of PCG in Slovakian gypsies, Saudi Arabian muslims and populations in Andhra Pradesh. 6 - 10…”

Section: Foxc1mentioning

confidence: 99%

“…5 Consanguinous marriages have been attributed as reasons behind high prevalence of PCG in many ethnic populations. 6 - 10 The penetrance (the extent of manifestation of an inheritable trait) of PCG also varies from 40 to 100% with more males being affected than females. 9 10 - 14 However, some studies suggest that there is equal prevalence of male and female cases.…”

Section: Introductionmentioning

confidence: 99%

Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma

Faiq

Mohanty

Dada

et al. 2013

Journal of Current Glaucoma Practice

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Primary congenital glaucoma (PCG) is a childhood irreversible blinding disorder with onset at birth or in the first year of life. It is characterized by the classical traid of symptoms viz. epiphora (excessive tearing), photophobia (hypersensitivity to light) and blepharospasm (inflammation of eyelids). The only anatomical defect seen in PCG is trabecular meshwork dysgenesis. PCG shows autosomal recessive mode of inheritance with considerable number of sporadic cases. The etiology of this disease has not been fully understood but some genes like CYP1B1, MYOC, FOXC1, LTBP2 have been implicated. Various chromosomal aberrations and mutations in mitochondrial genome have also been reported. Molecular biology has developed novel techniques in order to do genetic and biochemical characterization of many genetic disorders including PCG. Techniques like polymerase chain reaction, single strand conformational polymorphism and sequencing are already in use for diagnosis of PCG and other techniques like protein truncation testing and functional genomics are beginning to find their way into molecular workout of this disorder. In the light of its genetic etiology, it is important to develop methods for genetic counseling for the patients and their families so as to bring down its incidence. In this review, we ought to develop a genetic insight into PCG with possible use of molecular biology and functional genomics in understanding the disease etiology, pathogenesis, pathology and mechanism of inheritance. We will also discuss the possibilities and use of genetic counseling in this disease.How to cite this article: Faiq M, Mohanty K, Dada R, Dada T. Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma. J Current Glau Prac 2013;7(1):25-35.

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“…GIANFERRARI, CRESSERI e MALTARELLO (1954), studiando 9 famiglie in cui l'affezione e presente in molte generazioni, trovano 16 soggetti affetti su 49, il che corrisponde ad una penetranza vicina al 100%. DELMARGELLE (1957) riporta 2 casi: I caso, di idroftalmo bilaterale apparso all'eta di 4 mesi in un fanciullo il cui padre e la zia paterna sono affetti da idroftalmo congenito bilaterale di forma grave.…”

unclassified

Problemi di Genetica Oculistica: V. Coppia gemellare DZ con Atrofia dell'Iride concordante e Buftalmo discordante

Gedda¹,

Bérard-Magistretti²

1959

Acta genet. med. gemellol.

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Vi e motivo di discutere la natura delle malattie primitive dell'iride perche la dimostrazione dell'eziologia ereditaria di un settore e importante sia dal punto di vista dottrinario sia dal punto di vista pratico, cioe eugenico, ma anche per il fatto che lo studio di una malattia nell'ambito della consanguineita permette di coglierne particolari sintomi, aspetti, stadi ed equivalenti che uno studio limitato al soggetto, che presenta una forma dichiarata, non permetterebbe di evidenziare.Percio abbiamo pensato di portare il nostro contributo al problema della malattia ereditaria dell'aplasia iridea. Faremo questo riassumendo la letteratura che si riferisce alia genetica della malattia e poi descrivendo un caso gemellare occorsoci che riteniamo essere, non solo esemplificativo, ma anche, sotto qualche aspetto, dimostrativo, mentre ci riserviamo di tornare con altra casistica clinica sull'argomento.Gli studi gemellari, che hanno sempre riscosso particolare attenzione da parte dei cultori della specialita oculistica, si sono sviluppati indipendentemente sia nella direzione delle malformazioni dell'iride sia nella direzione dell'idroftalmo, producendo un'interessante casistica che piu oltre ricorderemo.Una recente osservazione gemellare infatti ci ha fornito l'occasione di raccogliere questa bibliografia, ma anche di formulare un'ipotesi che consideriamo interessante e che rappresenta il fulcro del presente lavoro: se cioe non vi sia fondato motivo di ridurre 'ad unita, almeno in certi casi, lo studio genetistico di queste due sindromi oftalmologiche: l'atrofia dell'iride e Pidroftalmo.

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Ricerche sulla ereditarietà dell'idroftalmo e della cataratta congenita in paesi delle Prealpi Orobiche

Cited by 11 publications

References 7 publications

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma

Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma

Problemi di Genetica Oculistica: V. Coppia gemellare DZ con Atrofia dell'Iride concordante e Buftalmo discordante

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