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1.
J Fr Ophtalmol ; 35(4): 235-41, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22243651

RESUMO

PURPOSE: Glaucoma is a progressive optic neuropathy leading to loss of visual function beginning with the peripheral visual field. One large population-based study found that individuals with visual impairment reported difficulties in performing most vision-dependent daily activities, including difficulty with driving. The objective of this retrospective cohort study was to investigate the driving habits of glaucoma patients and to determine the conformance of their visual acuity and visual fields with driving regulations. METHODS: The charts of 20 patients followed in the Ophthalmology Department of Foch Hospital, Suresnes, Paris, France, with open angle glaucoma (mean visual field mean deviation of the worse eye: -15.5 dB; range -1.97 to -27 dB) and still driving, were reviewed. Data collected included visual acuity, type of glaucoma, slit lamp and fundus examination, most recent standard automated perimetry, and binocular visual field test results. Each patient was asked if he or she still drove on highways, and if he or she still drove at night. RESULTS: The driving habits of glaucoma patients were analyzed, and visual acuity and binocular visual fields were compared to French and European legal driving criteria. Thirteen patients (65%) with glaucoma were still driving on highways, and five (25%) at night. Seven patients (35%) were below French legal minimum visual acuity or visual field criteria. CONCLUSION: Glaucoma patients appear to self-regulate their driving habits by avoiding potentially difficult driving situations. Further studies with larger sample size are necessary to determine relationships between severity of visual impairment, severity of visual field defects, and the cessation of driving.


Assuntos
Condução de Veículo/estatística & dados numéricos , Glaucoma/epidemiologia , Hábitos , Idoso , Idoso de 80 Anos ou mais , Progressão da Doença , Feminino , Glaucoma/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Limitação da Mobilidade , Estudos Retrospectivos , Índice de Gravidade de Doença , Visão Ocular/fisiologia , Acuidade Visual/fisiologia
2.
J Fr Ophtalmol ; 33(6): 380-2, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20493583

RESUMO

The G20210A mutation in the prothrombin gene is an established risk factor for venous thrombosis. There is controversy as to the role played by this mutation in arterial thrombotic disease. We present the case of a 56-year-old man who presented with a central retinal artery occlusion of the left eye. Evaluation revealed hypercholesterolemia, smoking, and heterozygosity for the prothrombin G20210A mutation. The literature concerning hereditary thrombophilia and retinal artery occlusion was reviewed. The synergistic effect of multiple risk factors is emphasized. Screening for hereditary thrombophilia should be considered, regardless of patient age. The prothrombin G20210A mutation may be associated with central retinal artery occlusion.


Assuntos
Mutação/genética , Protrombina/genética , Oclusão da Artéria Retiniana/etiologia , Angiografia Cerebral , Angiofluoresceinografia , Heterozigoto , Humanos , Hipercolesterolemia/complicações , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Oftalmoscopia , Oclusão da Artéria Retiniana/diagnóstico , Fatores de Risco , Fumar/efeitos adversos , Trombofilia/diagnóstico , Trombofilia/genética
3.
J Fr Ophtalmol ; 33(4): 266.e1-3, 2010 Apr.
Artigo em Francês | MEDLINE | ID: mdl-20181410

RESUMO

PURPOSE: To compare optical coherence tomography (OCT) and ultrasound biomicroscopy (UBM) for detection of plateau iris configuration and confirmation of plateau iris syndrome. PARTICIPANTS: Three subjects with plateau iris configuration were recruited. All patients underwent gonioscopy, UBM, and OCT. METHODS: The anterior chamber angle in each patient was imaged with a commercially available OCT unit. The angle configurations were assessed and compared with the UBM images. RESULTS: Both OCT and UBM showed excellent performance in identifying eyes with plateau iris. The UBM confirmed the plateau iris diagnosis by showing the iris root indentation caused by the ciliary body. The OCT, which is a rapid, non-contact exam, and non-operator-dependent, can only show indirect signs, because it cannot detect structures behind the iris. Nevertheless, the indirect signs with OCT were accurate enough to make the diagnosis. The OCT also shows the angle closure risk in a sitting patient, and is therefore more physiologic than the UBM exam, for which the patient is supine. OCT can directly show a patent laser iridotomy and confirm its efficacy. The OCT can detect indirect signs of plateau iris syndrome after iridotomy. CONCLUSION: The OCT unit can be practically employed to confirm a clinical suspicion of plateau iris configuration and syndrome.


Assuntos
Doenças da Íris/diagnóstico , Microscopia Acústica/métodos , Tomografia de Coerência Óptica/métodos , Câmara Anterior/patologia , Corpo Ciliar/patologia , Córnea/patologia , Gonioscopia , Humanos , Iris/patologia , Síndrome
4.
Am J Hematol ; 82(6): 486-8, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17211841

RESUMO

We describe the case of a 31-year-old female with Hodgkin's lymphoma who developed renal and retinal thrombotic microangiopathy (TM) months after autologous bone marrow transplantation. Presenting symptoms were ocular and examination findings were consistent with a Purtscher-like retinopathy. This case demonstrates that patients being treated with antineoplastic therapy who develop TM should have an ocular examination for Purtscher retinopathy. The visual prognosis of Purtscher retinopathy is guarded.


Assuntos
Antineoplásicos/efeitos adversos , Transplante de Medula Óssea/efeitos adversos , Doença de Hodgkin/terapia , Nefropatias/etiologia , Metilprednisolona/uso terapêutico , Doenças Retinianas/etiologia , Trombose/etiologia , Adulto , Feminino , Seguimentos , Glucocorticoides/uso terapêutico , Doença de Hodgkin/complicações , Doença de Hodgkin/diagnóstico , Humanos , Nefropatias/diagnóstico , Nefropatias/tratamento farmacológico , Recidiva , Doenças Retinianas/diagnóstico , Doenças Retinianas/tratamento farmacológico , Trombose/diagnóstico , Trombose/terapia , Transplante Autólogo , Resultado do Tratamento
5.
Arthritis Rheum ; 51(6): 974-82, 2004 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-15593175

RESUMO

OBJECTIVE: To assess the clinical spectrum of peripheral multifocal choroiditis (PMC) and its association with sarcoidosis. METHODS: Thirty-seven patients examined between November 1997 and November 2001 who met all diagnostic criteria for PMC were included in this retrospective study. Patients were assessed for the following signs of sarcoidosis: typical changes on chest radiography or computed tomography; predominantly CD4 lymphocytosis in bronchoalveolar lavage fluid; elevated serum angiotensin-converting enzyme levels; elevated gallium uptake; and noncaseating granuloma on biopsy. RESULTS: Most of the patients were female (30 of 37; 81%) and white (30 of 37; 81%). Mean +/- SD age at onset was 57.5 +/- 18.7 years. Seven (19%) of the 37 patients had biopsy-proven sarcoidosis and 18 patients (49%) with presumed sarcoidosis met at least 2 of the above-mentioned criteria for sarcoidosis but had normal biopsy results. Twelve patients (32%) had an indeterminate diagnosis. Patients with presumed sarcoidosis did not differ from those with proven sarcoidosis as regards the above-mentioned criteria, except for noncaseating granuloma, implying that more than two-thirds of patients (predominantly whites) had underlying sarcoidosis. Most patients with positive gallium scintigraphy had increased mediastinal uptake, as described in sarcoidosis. Patients with underlying sarcoidosis had more severe visual impairment due to cystoid macular edema (CME). Weekly methotrexate (0.3 mg/kg) seemed to control CME. CONCLUSION: White patients with PMC should be considered to have sarcoidosis. The identification of sarcoidosis in patients with severe ocular disease can help with therapeutic choices.


Assuntos
Corioidite/complicações , Sarcoidose Pulmonar/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Corioidite/tratamento farmacológico , Corioidite/patologia , Feminino , Angiofluoresceinografia , Gálio , Humanos , Edema Macular/tratamento farmacológico , Edema Macular/etiologia , Edema Macular/patologia , Masculino , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Cintilografia , Estudos Retrospectivos , Sarcoidose Pulmonar/diagnóstico por imagem , Sarcoidose Pulmonar/patologia , Tomografia Computadorizada por Raios X
6.
J Fr Ophtalmol ; 27(9 Pt 1): 1013-6, 2004 Nov.
Artigo em Francês | MEDLINE | ID: mdl-15557863

RESUMO

PURPOSE: Seventeen consecutive cases of Vogt-Koyanagi-Harada (VKH) disease were studied to determine their clinical profile. METHODS: This was a retrospective study of 17 cases, in a white and African population. RESULTS: The sex ratio (female/male) was 1.6. Mean age was 37.65 +/- 10.2 years. Eight patients were Caucasian (47%), and seven were from North Africa (41%), and two were black Africans (12%). Eleven patients were referred during the acute stage, and six patients secondarily. All patients had bilateral ocular involvement. Panuveitis with retinal serous detachment was the most frequent presentation (88%). Extraocular signs were found in 87% of the cases. Initial visual acuity was 0.29 +/- 0.36, and final visual acuity was 0.78 +/- 0.3. Patients seen during the acute stage were treated with general corticotherapy. Immunosuppressive agents were given in 56% of the cases. CONCLUSIONS: Vogt-Koyanagi-Harada disease, in a Caucasian and African population, has a presentation close to that of the Japanese population. However, cutaneous signs are much rarer. Visual prognosis was generally favorable.


Assuntos
Síndrome Uveomeningoencefálica , Adolescente , Adulto , População Negra , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Síndrome Uveomeningoencefálica/diagnóstico , Síndrome Uveomeningoencefálica/tratamento farmacológico , População Branca
7.
J Fr Ophtalmol ; 27(8): 921-3, 2004 Oct.
Artigo em Francês | MEDLINE | ID: mdl-15547475

RESUMO

We report the clinical observation of a 16-year-old male, with no particular medical or ocular history, who presented with loss of vision in the right eye on the first post-operative day after uncomplicated extraction of the four third molar roots under general anesthesia. Loss of vision, due to optic disc ischemia, persisted after 2 months. The clinical and pathogenic features of this rare optic nerve ischemia complication are discussed.


Assuntos
Neuropatia Óptica Isquêmica/etiologia , Extração Dentária/efeitos adversos , Adolescente , Humanos , Masculino
8.
Ann Rheum Dis ; 63(10): 1276-8, 2004 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-15361386

RESUMO

BACKGROUND: Cardiovascular diseases, vasospasm, and dysimmunity have been implicated in normal tension glaucoma (NTG). OBJECTIVE: To investigate the prevalence of ocular abnormalities suggestive of glaucoma damage in systemic sclerosis (SSc). METHODS: 61 patients with SSc (mean (SD) age 56.2 (12) years, mean (SD) disease duration 9.9 (9) years; 41 with limited cutaneous disease) and 37 control subjects with osteoarthritis (mean (SD) age 55.9 (12) years) were studied. They were systematically referred to an ophthalmologist. The evaluation was based on aplanation tonometry, ophthalmoscopy with retinal photography (evaluation of cup/disc ratio (c/d)), and automated static perimetry (determination of mean defects (MD)). Statistical analyses were performed with the chi(2), Mann-Whitney, and Spearman tests. RESULTS: The mean visual acuity and intraocular pressure were similar in both groups. An excavation with a c/d >0.3 was found in 27 eyes from patients with SSc and 5 eyes from controls (p = 0.009); a c/d >0.7 was found in 4 eyes from patients with SSc and none in the controls (NS). Visual field defects (MD <-2 dB) were found in 55 eyes from patients with SSc and in 18 eyes from controls (p<0.0001). A concomitant c/d >0.3 and MD <-2 dB was found in 21 eyes from 12 patients with SSc but in none of the control eyes (p<0.0001). CONCLUSION: Ocular abnormalities suggesting glaucomatous neuropathy without ocular hypertension were dramatically more prevalent in patients with SSc. These abnormalities seem to be mild but justify long term follow up. They are consistent with the vascular pathogenic hypothesis for NTG.


Assuntos
Glaucoma/etiologia , Escleroderma Sistêmico/complicações , Adulto , Idoso , Feminino , Humanos , Pressão Intraocular , Masculino , Pessoa de Meia-Idade , Osteoartrite/complicações , Estudos Prospectivos , Escleroderma Sistêmico/fisiopatologia , Acuidade Visual , Campos Visuais
9.
J Fr Ophtalmol ; 26 Spec No 2: S23-30, 2003 Oct.
Artigo em Francês | MEDLINE | ID: mdl-14646828

RESUMO

This study reports four clinical cases of papillary drusen associated with OHT. The authors show the advantages of HRT, OCT2, and GDx for exploring the optic nerve and/or the retinal nerve fiber layer (RNFL). The repercussions of drusen on the optic nerve head may precede visual field failure. Better knowledge of the interpretation of these new imaging techniques may help define the respective roles of drusen and OHT, in case of visual field attack, and treatment modalities. These new procedures may help us to monitor drusen and their progression potential.


Assuntos
Drusas do Disco Óptico/diagnóstico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
10.
J Fr Ophtalmol ; 26(8): 842-4, 2003 Oct.
Artigo em Francês | MEDLINE | ID: mdl-14586228

RESUMO

We report a case of a 21-year-old man with Fabry's disease who presented with a sudden decrease in visual acuity to 20/200 in the left eye. Pale areas with a lobular choroidal distribution were seen on fundus examination. No retinal vascular causes were found on further evaluation. With anticoagulation treatment, the patient's subsequent course was good, with visual recovery to 20/25 and normalization of the funduscopic appearance. Recovery of both visual acuity and the pale, lobular areas suggested a choroidal etiology, probably ischemic because of the sudden onset. Choroidian ischemia is therefore a cause of visual acuity loss in Fabry's disease, so far not described in the literature.


Assuntos
Doenças da Coroide/etiologia , Corioide/irrigação sanguínea , Doença de Fabry/complicações , Isquemia , Acuidade Visual , Adulto , Anticoagulantes/administração & dosagem , Anticoagulantes/uso terapêutico , Doenças da Coroide/complicações , Doenças da Coroide/diagnóstico , Doenças da Coroide/tratamento farmacológico , Fibrinolíticos/administração & dosagem , Fibrinolíticos/uso terapêutico , Angiofluoresceinografia , Fundo de Olho , Heparina de Baixo Peso Molecular/administração & dosagem , Heparina de Baixo Peso Molecular/uso terapêutico , Humanos , Isquemia/complicações , Masculino , Inibidores da Agregação Plaquetária/administração & dosagem , Inibidores da Agregação Plaquetária/uso terapêutico , Resultado do Tratamento
11.
J Fr Ophtalmol ; 26(2): 198-201, 2003 Feb.
Artigo em Francês | MEDLINE | ID: mdl-12660597

RESUMO

About 2% of the French population over the age of 40 suffers from open angle glaucoma, a disorder for which ocular hypertension is the main risk factor. Improving our understanding of primary open-angle glaucoma physiopathology has been an area of intense research for nearly a century. The main aqueous outflow system in the human eye includes the trabecular meshwork, Schlemm's canal, aqueous veins, and the episcleral veins. Schlemm's canal is bordered by endothelium cells, many of which contain giant vacuoles, structures that are sensitive to intraocular pressure and that therefore can act as markers of active outflow. Giant vacuoles are most often found near collector channels in normal eyes, probably in areas of low downstream pressure. In the glaucoma eye, determining where giant vacuoles form could help localize the site of pathological outflow resistance.


Assuntos
Humor Aquoso/fisiologia , Vacúolos/fisiologia , Humanos
13.
Cornea ; 20(6): 603-6, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11473160

RESUMO

PURPOSE: To identify changing trends in penetrating keratoplasties (PKs) performed at the Hotel-Dieu Hospital in Paris between January 1980 and December 1999 and to explain the reasons for the changes. METHODS: We retrospectively reviewed 3,736 of the 3,836 PKs performed between January 1, 1980, and December 31, 1999, and classified them into diagnostic categories. RESULTS: The most common indications for PK were keratoconus (28.8%), herpetic infections (10.9%), graft failures (9.9%), aphakic and pseudophakic corneal edema (9.9%), Fuchs' endothelial dystrophy (9.4%), and nonherpetic leucoma (7.7%). Other indications represented 23.4% of the cases. The incidence of aphakic and pseudophakic corneal edema progressively increased between 1980 and 1991, became the most frequent indication in 1991 (21.4%), and then progressively decreased. The annual number of PKs increased between 1980 and 1986, decreased between 1987 and 1997, and increased again after September 1997. The decrease was caused by both a shortage of corneal buttons, and, in 1987, the fear of transmitting diseases through corneal transplantation, particularly human immunodeficiency virus. Beginning in 1992, decreases were also associated with stringent governmental regulations of eye bank tissue. CONCLUSION: Changes in the incidence and management of corneal disorders were the primary factors leading to modifications of grafting until 1987. After 1987, corneal button shortage probably corresponded to the acquired immune deficiency syndrome epidemic. Governmental regulations of eye banking led to a severe corneal button shortage between 1992 and 1997. Despite an increase in the number of PKs performed after 1997, corneal buttons are still preferentially allocated to patients in whom there is a high probability of graft success.


Assuntos
Ceratoplastia Penetrante/tendências , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Doenças da Córnea/epidemiologia , Doenças da Córnea/cirurgia , Bancos de Olhos/legislação & jurisprudência , Bancos de Olhos/normas , Feminino , Humanos , Incidência , Lactente , Ceratoplastia Penetrante/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Paris/epidemiologia , Estudos Retrospectivos
14.
Am J Ophthalmol ; 132(1): 27-35, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11438050

RESUMO

PURPOSE: To determine the long-term outcome of glaucoma filtration surgery in preserving vision. Visual loss from progressive glaucomatous damage and from complications of surgery, both short and long term, were included. METHODS: A retrospective, community-based, longitudinal study of residents of Olmsted County, Minnesota, who were newly diagnosed with open-angle glaucoma between 1965 and 1980 and underwent filtration surgery in these or subsequent years through 1998. Intraocular pressure (IOP), visual acuity, visual fields, and progression to legal blindness were monitored. Kaplan-Meier analysis was used to determine the cumulative probabilities of changes in these parameters. RESULTS: 73 eyes of 49 patients underwent conventional filtration surgery. Analysis of the first eye having surgery revealed a mean preoperative IOP of 27.6 +/- 8.5 mm dropping to 16.7 +/- 5.6 mm at year one, and remaining in this range throughout follow-up (14.7 +/- 3.0 mm at 10 years; with or without use of medications). The probability of progression to blindness was 46% at 10 years after surgery, as calculated by Kaplan-Meier analysis. Eyes going blind had a postoperative IOP equal to or lower than those not becoming blind (14.0 +/- 4.4 vs. 15.4 +/- 3.0 at postoperative year 10). Eyes going blind had more advanced field loss at the time of surgery, with scotomas above and below the horizontal axis, than eyes not going blind, which had scotomas in only one hemifield. Three patients developed late bleb leaks; two patients developed endophthalmitis. The probability of undergoing cataract surgery was 37% by 10 years postoperatively, which did not differ significantly from the cohort of patients not undergoing surgery at a comparable time point. CONCLUSIONS: Filtration surgery was associated with a 54% probability of preservation of vision from progression to legal blindness at 10 years after surgery. Patients becoming blind had more advanced field loss at the time of surgery; IOP was similar between those going blind and those retaining vision.


Assuntos
Glaucoma de Ângulo Aberto/cirurgia , Trabeculectomia , Idoso , Cegueira/prevenção & controle , Extração de Catarata , Progressão da Doença , Feminino , Seguimentos , Glaucoma de Ângulo Aberto/fisiopatologia , Humanos , Pressão Intraocular , Implante de Lente Intraocular , Masculino , Complicações Pós-Operatórias , Probabilidade , Estudos Retrospectivos , Análise de Sobrevida , Resultado do Tratamento , Acuidade Visual , Campos Visuais
15.
J Fr Ophtalmol ; 24(9): 1006-9, 2001 Nov.
Artigo em Francês | MEDLINE | ID: mdl-11912831

RESUMO

A case of meibomian carcinoma of the left eyelid is reported in a 72-year-old female patient. The tumor had been present on the left eyelid for months. Clinically, the tumor appeared as a reddish mass implanted on the external part of the free margin of the left superior eyelid. An excisional biopsy disclosed meibomian carcinoma. A total resection of the left superior eyelid was followed by plastic surgery. Results after a one-month follow-up were very satisfactory. This case is emphasizes the importance of an early diagnosis which enabled us to perform a rather conservative treatment limited to the removal of the affected eyelid. The diagnosis of meibomian carcinoma is infrequent but it must be kept in mind in cases of tumor without the typical clinical characteristics of a basal cell or squamous cell carcinoma. Complete removal surgery may bring a curative effect and histopathology has a key role in the diagnosis of meibomian carcinoma.


Assuntos
Adenocarcinoma/patologia , Neoplasias Palpebrais/patologia , Glândulas Tarsais , Idoso , Feminino , Humanos
16.
Invest Ophthalmol Vis Sci ; 41(10): 2984-90, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10967055

RESUMO

PURPOSE: To determine whether giant vacuoles form preferentially near collector channels or over regions of optically empty space within the juxtacanalicular tissue (JCT). METHODS: To assess the relationship between giant vacuoles and collector channels, six eyes were perfused with phosphate-buffered saline (PBS) at 20 mm Hg and then fixed by perfusion. Serial sections were cut in the frontal plane and light microscopy used to count the number of giant vacuoles per length of Schlemm's canal. The number of giant vacuoles between two adjacent collector channels was determined. To assess the relationship between giant vacuoles and the ultrastructure of the JCT, an additional seven eyes were perfused with PBS at 10 mm Hg, fixed by perfusion, and examined by transmission electron microscopy. The ultrastructural components of the JCT were quantitated with an image analysis system. RESULTS: Twice as many giant vacuoles were present in regions underlying collector channels as in regions between channels (giant vacuoles per histologic section: 14.0 +/- 1.7 versus 7.3 +/- 0.8, P: = 0.01). Giant vacuoles occurred on both the inner and outer walls of the canal but were more numerous on the inner wall (9.1 +/- 1.0 versus 2.6 +/- 0.4, P: < 0.001). No significant increase in optically empty space was found in the JCT regions underlying giant vacuoles compared with regions with no vacuoles (50.7% +/- 2.3% versus 47.3% +/- 2.5%, P: = 0.09). Examination of the amount of optically empty space immediately adjacent (within 1 microm) to the inner wall endothelial cells of the canal did not reveal a significant difference between regions under vacuoles and regions without giant vacuoles. CONCLUSIONS: Giant vacuoles are found preferentially near collector channels, indicating that aqueous flow across the inner wall is sensitive to downstream pressure. The variability in giant vacuole distribution noted in previous studies is in part due to the distance of the vacuoles from the collector channels. No distinct findings in the JCT were associated with the presence of giant vacuoles.


Assuntos
Esclera/ultraestrutura , Vacúolos/ultraestrutura , Idoso , Idoso de 80 Anos ou mais , Humor Aquoso/metabolismo , Humanos , Pessoa de Meia-Idade , Esclera/metabolismo , Malha Trabecular/anatomia & histologia , Malha Trabecular/metabolismo
17.
Curr Opin Ophthalmol ; 10(3): 168-72, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10537774

RESUMO

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is the most frequent extraintestinal manifestation of familial adenomatous polyposis. Present in 70% of families with familial adenomatous polyposis, CHRPE is a highly reliable and early marker of the disease. Studies over the past 5 years have addressed the histologic characteristics of the pigmented fundus lesions, the definition of universal positive fundus criteria, and mostly the genotype-phenotype correlation. Indeed, the position of the mutation site of the APC (adenomatous polyposis coli) gene on chromosome 5 influences the retinal expressivity because CHRPE is present only if the mutation is located between exons 9 and 15. In CHRPE-positive families, fundus examination is simple, noninvasive, reproducible, inexpensive, and allows early detection of the mutant gene carriers. Knowing the CHRPE status of patients in a family with familial adenomatous polyposis helps to identify constitutional APC mutations. The combination of genetic analysis and fundus examination offers a 100% diagnostic predictability.


Assuntos
Polipose Adenomatosa do Colo/diagnóstico , Epitélio Pigmentado Ocular/patologia , Doenças Retinianas/diagnóstico , Polipose Adenomatosa do Colo/complicações , Polipose Adenomatosa do Colo/genética , Cromossomos Humanos Par 5 , Angiofluoresceinografia , Fundo de Olho , Genes APC/genética , Humanos , Hipertrofia/congênito , Hipertrofia/patologia , Mutação , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Doenças Retinianas/complicações , Doenças Retinianas/genética
18.
J Fr Ophtalmol ; 21(6): 451-3, 1998.
Artigo em Francês | MEDLINE | ID: mdl-9759443

RESUMO

Cornea Plana is a bilateral and asymmetric congenital malformation of the corneo-scleral shape. Corneo-scleral lenses are said to be the preferential treatment. We reported the case of a 20-year-old woman, whose Cornea Plana was diagnosed at birth, with high hypermetropia and well-corrected with routine spectacles since she was 6 months old.


Assuntos
Córnea/anormalidades , Erros de Refração/etiologia , Criança , Pré-Escolar , Anormalidades Congênitas , Óculos , Feminino , Seguimentos , Humanos , Lactente , Erros de Refração/diagnóstico , Erros de Refração/reabilitação
19.
J Fr Ophtalmol ; 21(10): 761-3, 1998 Dec.
Artigo em Francês | MEDLINE | ID: mdl-10052050

RESUMO

A case of posttraumatic scleromalacia in a patient with Ehlers-Danlos syndrome is presented. The rare localization of the ocular rupture following a minimal trauma is discussed, as well as this scleromalacia treatment.


Assuntos
Síndrome de Ehlers-Danlos/complicações , Ferimentos Oculares Penetrantes/complicações , Esclera/lesões , Doenças da Esclera/etiologia , Adulto , Ferimentos Oculares Penetrantes/diagnóstico , Ferimentos Oculares Penetrantes/cirurgia , Feminino , Humanos , Ruptura , Doenças da Esclera/diagnóstico
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