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1.
Biol Lett ; 16(10): 20200485, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-33050833

RESUMEN

Religious rituals are universal human practices that play a seminal role in community bonding. In two experiments, we tested the role of mu-opioids as the active factor fostering social bonding. We used a mu-opioid blocker (naltrexone) in two double-blind studies of rituals from different religious traditions. We found the same effect across both studies, with naltrexone leading to significantly lower social bonding compared with placebo. These studies suggest that mu-opioids play a significant role in experiences of social bonding within ritual contexts.


Asunto(s)
Conducta Ceremonial , Receptores Opioides mu , Método Doble Ciego , Humanos , Naltrexona
3.
Br J Ophthalmol ; 94(11): 1493-8, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20558423

RESUMEN

AIMS: To evaluate pain responses following Pascal 20 ms multi-spot and 100 ms single-spot panretinal photocoagulation (PRP). METHODS: Single-centre randomised clinical trial. 40 eyes of 24 patients with treatment-naive proliferative diabetic retinopathy randomised to 20 and 100 ms PRP under topical 0.4% oxybuprocaine. A masked grader used a pain questionnaire within 1 h (numerical pain score (NPS)) and 1 month after treatment (numerical headache score (NHS)). Primary outcome measure was NPS immediately post-PRP. Secondary outcome measures were mean NHS scores and levels of photophobia reported within 4 weeks of primary PRP. RESULTS: Mean laser fluence was significantly lower using 20 ms PRP (4.8 J/cm²) compared to 100 ms PRP (11.8 J/cm²); p < 0.001). Mean NPS scores for treatment were 2.4 (2.3) (mild) for 20 ms PRP group compared to 4.9 (3.3) (moderate) in 100 ms PRP group-a significant difference (95% CI 4.3 to 0.68; p = 0.006). Mean NHS score within 1 month was 1.5 (2.7) in 20 ms PRP group compared to 3.2 (3.5) in the 100 ms PRP group (p < 0.05). The median duration of photophobia after 20 ms PRP was 3 h, and significantly less compared to 100 ms PRP after which 72 h of photophobia was reported (p < 0.001). CONCLUSIONS: Multi-spot 20 ms PRP was associated with significantly lower levels of anxiety, headache, pain and photophobia compared to 100 ms single-spot PRP treatment. Possible reasons include lower fluence, shorter-pulse duration, and spatial summation of laser nociception with multi-spot Pascal technique.


Asunto(s)
Anestésicos Locales/administración & dosificación , Retinopatía Diabética/cirugía , Fotocoagulación/efectos adversos , Dolor Postoperatorio/etiología , Procaína/análogos & derivados , Vitreorretinopatía Proliferativa/cirugía , Administración Tópica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Dolor Postoperatorio/prevención & control , Fotofobia/etiología , Procaína/administración & dosificación , Estudios Prospectivos
4.
Br J Ophthalmol ; 93(4): 518-25, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19074915

RESUMEN

AIM: To report the evolution of pattern scanning laser (Pascal) photocoagulation burns in the treatment of diabetic retinopathy, using Fourier-domain optical coherence tomography (FD-OCT) and fundus autofluorescence (AF), and to evaluate these characteristics with clinically visible alterations in outer retina (OR) and retinal pigment epithelium (RPE). METHODS: Standard red-free and colour fundus photography (FP), FD-OCT, and fundus camera-based AF were performed in 17 eyes of 11 patients following macular and panretinal photocoagulation (PRP). RESULTS: One hour following Pascal application, visibility of threshold burns on FP was incomplete. AF enabled visualisation of complete treatment arrays at 1 h, with hypoautofluorescence at sites of each laser burn. AF signals accurately correlated with localised increased optical reflectivity within the outer retina on FD-OCT. AF signals became hyperautofluorescent at 1 week, and corresponded on FD-OCT to defects at the junction of the inner and outer segments of the photoreceptors (JI/OSP) and upper surface of RPE. A 10 ms macular laser pulse produced a localised defect at the level of JI/OSP and RPE. Macular and 20 ms PRP burns did not enlarge at 1 year's and 18 months' follow-up respectively. CONCLUSIONS: We report the in vivo spatial localisation and clinical correlation of medium-pulse Pascal photocoagulation burns within outer retina and RPE, using high-resolution FD-OCT and AF. Ophthalmoscopically invisible and threshold Pascal burns may be accurately localised and mapped by AF and FD-OCT, with monitoring over time.


Asunto(s)
Retinopatía Diabética/cirugía , Angiografía con Fluoresceína , Coagulación con Láser/métodos , Tomografía de Coherencia Óptica/métodos , Adulto , Anciano , Retinopatía Diabética/patología , Femenino , Estudios de Seguimiento , Análisis de Fourier , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Periodo Posoperatorio , Epitelio Pigmentado de la Retina/patología
6.
Br J Ophthalmol ; 92(8): 1061-4, 2008 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-18586905

RESUMEN

BACKGROUND: The Pascal is a semiautomated photocoagulator that delivers a pattern array of multiple burns in a rapid predetermined sequence with a single foot pedal depression. Each burn is reduced to 10 or 20 ms to achieve this. The authors report their early experience with this system. METHODS: 75 procedures done in 60 patients divided into four groups-group A, patients undergoing panretinal photocoagulation (PRP); group B, patients undergoing focal or modified grid macular laser; group C, patients undergoing macular grid and group D, patients undergoing retinopexy-were retrospectively studied. RESULTS: 31/34 procedures in group A, 24/26 procedures in group B, 5/7 procedures in group C and all eight patients in group D had successful outcomes. Significantly higher powers were required with the Pascal than with conventional laser (p<0.001) in eyes that underwent PRP and focal/modified grid macular treatment with both systems. Single session PRP was successfully performed in five patients, and five were successfully treated with a macular grid using pattern arrays only. No adverse events were noted. CONCLUSION: Although the shorter pulse duration of the Pascal necessitates the use of a higher power, it is not associated with adverse effects. The results here suggest that the Pascal photocoagulator is safe and effective, and offer several potential advantages related to the brief exposure time.


Asunto(s)
Coagulación con Láser/instrumentación , Enfermedades de la Retina/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Coagulación con Láser/métodos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Enfermedades de la Retina/fisiopatología , Estudios Retrospectivos , Resultado del Tratamiento , Agudeza Visual
7.
Br J Ophthalmol ; 92(4): 493-5, 2008 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17962391

RESUMEN

AIMS: To study the clinical features, management and outcomes of displacement of nuclear fragments into the vitreous (DNFV) complicating phacoemulsification in the UK. METHODS: Cases were collected prospectively between March 2003 and March 2004 inclusive by active surveillance through the British Ophthalmological Surveillance Unit. Details were obtained using incidence questionnaires and follow-up questionnaires after 6 months. The data used in this paper were obtained from the follow-up questionnaires. RESULTS: 610 cases were confirmed during the reporting period, for which 387 follow-up questionnaires were received. In 67% of cases, a best-corrected visual acuity of 6/12 or better was reported at final follow-up. The most common immediate sequelae of DNFV were intraocular inflammation (85%), corneal oedema (55%) and an intraocular pressure >30 mm Hg (34%). Pars plana vitreolensectomy was used in 97% of cases, and fragmatome ultrasound lensectomy was used in over half of these procedures. The median time from cataract surgery to pars plana vitrectomy for the removal of DNFV was 3 days, and most patients (68%) had vitrectomy within 1 week of the first procedure. An intraocular lens had been inserted at the time of the complicated cataract surgery (defined as a "primary IOL") in 40% of cases, and over three-quarters of these primary IOLs were subsequently removed (with or without a replacement IOL). Only 67% of eyes that had a primary IOL inserted after DNFV were pseudophakic at final follow-up, in contrast with 79% of eyes that were left aphakic after DNFV (p = 0.008). A best-corrected visual acuity of 6/60 or worse was reported in 14% of cases at final follow-up and was most commonly associated with persistent uveitis, corneal oedema, cystoid macular oedema, optic atrophy or retinal detachment. CONCLUSIONS: DNFV complicating cataract surgery was followed by a secondary procedure in 97% of cases. About three-quarters (77%) of "primary IOLs" inserted at the time of DNFV were subsequently removed or replaced, and eyes that had received a primary IOL had significantly less chance of being pseudophakic at final follow-up than eyes that had been left primarily aphakic at the time of the complicated cataract surgery. The delay before secondary intervention was shorter, fragmatome ultrasound lensectomy use was higher, and the retinal detachment rate was lower than in previous studies. Affected eyes still had a worse outcome in terms of visual acuity compared with eyes after uncomplicated cataract surgery.


Asunto(s)
Núcleo del Cristalino/cirugía , Subluxación del Cristalino/etiología , Facoemulsificación/efectos adversos , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Subluxación del Cristalino/cirugía , Lentes Intraoculares , Masculino , Persona de Mediana Edad , Periodo Posoperatorio , Estudios Prospectivos , Seudofaquia , Resultado del Tratamiento , Agudeza Visual , Vitrectomía , Cuerpo Vítreo
8.
Br J Ophthalmol ; 92(4): 488-92, 2008 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17965101

RESUMEN

AIMS: To study the epidemiology and risk factors contributing to displacement of nuclear fragments into the vitreous (DNFV) complicating phacoemulsification in the UK. METHODS: Cases were collected prospectively between March 2003 and March 2004 by active surveillance through the British Ophthalmological Surveillance Unit (BOSU). Case-control analysis of risk factors was performed by visiting 10 randomly selected centres using a total of 521 cases of uncomplicated phacoemulsification. Validation analysis to assess under-reporting was performed in a total of 13 randomly selected units. RESULTS: 610 cases of DNFV were confirmed during the reporting period. The estimated incidence of DNFV was 0.19-0.28%. The group with complications was significantly older than the control group (mean 76.8 vs 74.3 years: p<0.001). Significant preoperative risk factors were posterior synechiae (5.1% vs 2.2%), incomplete pupil dilation (59.5% vs 8.8%), pseudoexfoliation (5.6% vs 1.4%) and previous vitrectomy (7.8% vs 2.2%). Significant operative variables related to surgical experience, topical (14.3% vs 3.1%) and sub-Tenon's (51.4% vs 37.2%) anaesthesia, and requirement for vision blue (trypan blue ophthalmic solution) (13.7% vs 2.4%). CONCLUSIONS: The estimated incidence of DNFV during phacoemulsification surgery in the UK is two or three per 1000 operations. Risk factors have been identified that should help to guide case selection for phacoemulsification surgery and modify techniques.


Asunto(s)
Núcleo del Cristalino/cirugía , Subluxación del Cristalino/etiología , Facoemulsificación/efectos adversos , Adulto , Anciano , Anciano de 80 o más Años , Métodos Epidemiológicos , Femenino , Humanos , Presión Intraocular , Subluxación del Cristalino/epidemiología , Subluxación del Cristalino/fisiopatología , Masculino , Persona de Mediana Edad , Reino Unido/epidemiología , Agudeza Visual , Cuerpo Vítreo
9.
Eye (Lond) ; 19(5): 567-70, 2005 May.
Artículo en Inglés | MEDLINE | ID: mdl-15389285

RESUMEN

PURPOSE: To compare the incidence and severity of all grades of dysphotopsia in three types of acrylic intraocular lenses: the Acrysof MA30 BA and MA60 BM IOLs (Alcon) and the Akreos Fit one-piece IOL (Bausch and Lomb). METHODS: In all 111 patients were prospectively recruited who had undergone uncomplicated cataract surgery in the previous 12 months. Patients were assessed using a combination of a questionnaire and standardised provocation test, and were scored on a grading scale of 0-6 (0 indicating no glare and 6 indicating the most severe symptoms). RESULTS: The overall incidence of dysphotopsia was 77.7%. Patients with absent or mild symptoms (scoring 2 or less on the grading scale) were greater in the group implanted with the Akreos IOLs (49/65 eyes, 75%) as opposed to (44/92 eyes, 48%) of the eyes implanted with Acrysof lenses. Patients with more marked symptoms of glare as judged by scores of 5-6 were uncommon, but more prevalent in the Acrysof lenses (12/92 eyes, 13%) compared to the Akreos lenses (3/65 eyes, 4.6%) respectively. Statistically the Mann-Whitney test showed that there was significantly less dysphotopsia with the Akreos lens when compared to the Acrysof MA30 (P=0.005) and MA60 lenses (P=0.002). CONCLUSION: This study demonstrates that dysphotopsia symptoms are commonly seen in certain brands of Acrylic IOLs. However, differences in design (not only related to the edge) significantly reduce the incidence of moderate and severe grades of dysphotopic symptoms.


Asunto(s)
Lentes Intraoculares/efectos adversos , Trastornos de la Visión/etiología , Resinas Acrílicas , Anciano , Deslumbramiento , Humanos , Facoemulsificación , Estudios Prospectivos , Diseño de Prótesis , Índice de Severidad de la Enfermedad
11.
Postgrad Med J ; 79(928): 108-9, 2003 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-12612330

RESUMEN

A 46 year old Nigerian man presented with a four week history of progressive bilateral visual loss. He had been unwell, with weight loss, fever, and night sweats for six months. Dilated fundoscopy revealed macular haemorrhages and diffuse Roth's spots. The patient was found to be severely anaemic and a bone marrow aspirate revealed a T cell lymphoma with a decreased CD4+ T cell count. The patient consented for testing for HIV which proved positive.


Asunto(s)
Infecciones por VIH/complicaciones , Hemorragia Retiniana/etiología , Trastornos de la Visión/etiología , Anemia/complicaciones , Humanos , Masculino , Persona de Mediana Edad
13.
Postgrad Med J ; 77(904): 119-20, 2001 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-11161082

RESUMEN

A 16 year old boy awaiting a defunctioning colostomy for Crohn's disease complained of reduced vision in his left eye. Four weeks previously candida had been isolated from his central line used for parenteral feeds. Fundal examination of the left eye revealed a macular abscess with a classic "string of pearls" appearance of multiple vitreous abscesses. This was treated with pars plana vitrectomy and intravitreal antifungal therapy. Microbiological studies confirmed a diagnosis of candida endophthalmitis.


Asunto(s)
Candidiasis/etiología , Endoftalmitis/microbiología , Infecciones Fúngicas del Ojo/etiología , Nutrición Parenteral/efectos adversos , Adolescente , Antifúngicos/uso terapéutico , Candida albicans/aislamiento & purificación , Candidiasis/diagnóstico , Candidiasis/tratamiento farmacológico , Contaminación de Equipos , Infecciones Fúngicas del Ojo/diagnóstico , Fluconazol/uso terapéutico , Humanos , Masculino , Vitrectomía/métodos
14.
Hum Genet ; 108(1): 51-4, 2001 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-11214907

RESUMEN

Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by congenital nystagmus and photodysphoria, moderate to severe reduction of visual acuity, hypopigmentation of the retina, and the presence of macromelanosomes in the skin and eyes. We have previously isolated the gene for OA1 and characterized its protein product as melanosomal membrane glycoprotein displaying structural and functional features of G protein-coupled receptors. We and others have identified mutations of various types within the OA1 gene in patients with this disorder, including deletions and splice site, frameshift, nonsense, and missense mutations. However, different prevalences of large intragenic deletions have been reported, ranging from 10% to 50% in independent studies. To determine whether these differences might be related to the geographic origin of the OA1 families tested, we performed a further extensive mutation analysis study leading to the identification of pathogenic mutations in 30 unrelated OA1 patients mainly from Europe and North America. These results, together with our earlier mutation reports on OA1, allow us to resolve the apparent discrepancies between previous studies and point to a substantial difference in the frequency of large intragenic deletions in European (<10%) compared with North American (>50%) OA1 families. These observations and our overall refinement of point mutation distribution within the OA1 gene have important implications for the molecular diagnosis of OA1 and for the establishment of any mutation detection program for this disorder.


Asunto(s)
Albinismo Ocular/genética , Proteínas del Ojo/genética , Glicoproteínas de Membrana/genética , Mutación , Eliminación de Secuencia , Análisis Mutacional de ADN , Europa (Continente) , Humanos , América del Norte
15.
Singapore Med J ; 41(6): 298-300, 2000 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-11109349

RESUMEN

There have been profound changes in the pattern of cytomegalovirus (CMV) retinitis over the last two decades. The epidemiology and behaviour of CMV retinitis has been significantly altered by Acquired Immune Deficiency Syndrome (AIDS). It was uncommon prior to the AIDS epidemic, but soon became the most common retinal infection in AIDS patients. In the past several years, highly active anti-retroviral treatment (HAART) has achieved a dramatic improvement in the prognosis for patients infected with human immunodeficiency virus (HIV). As a result, HIV patients are living longer and have a reduced risk of CMV retinitis. Some patients with CMV retinitis who respond to HAART develop a transient symptomatic vitritis while others undergo no reactivation of their retinitis despite having no specific anti-CMV therapy. This pattern is likely to undergo further change as the treatment of HIV and CMV disease continues to improve.


Asunto(s)
Infecciones Oportunistas Relacionadas con el SIDA/tratamiento farmacológico , Infecciones Oportunistas Relacionadas con el SIDA/epidemiología , Infecciones por Citomegalovirus/tratamiento farmacológico , Infecciones por Citomegalovirus/epidemiología , Terapia Antirretroviral Altamente Activa/métodos , Terapia Antirretroviral Altamente Activa/tendencias , Antivirales/uso terapéutico , Progresión de la Enfermedad , Humanos , Longevidad , Pronóstico , Inducción de Remisión , Factores de Riesgo , Resultado del Tratamiento
17.
Acta Ophthalmol Scand ; 77(6): 713-6, 1999 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-10634571

RESUMEN

PURPOSE: An unusual case of choroidal metastases from an ovarian adenocarcinoma is described, and a brief review of the literature is presented. METHODS: Clinical and autopsy findings are presented. RESULTS: After having diagnosed bilateral choroidal metastatic lesions, a clinical investigation and a subsequent laparotomy disclosed bilateral ovarian tumors with histopathological features of mucinous adenocarcinoma. At autopsy the tumor was confirmed to be a primary ovarian mucinous adenocarcinoma with choroidal metastases. CONCLUSION: This article describes what is believed to be the first case report of a primary epithelial carcinoma of the ovary with histopathologically documented metastases to the choroid. Metastatic disease must be considered in the evaluation of patients with choroidal lesions of unknown etiology.


Asunto(s)
Adenocarcinoma Mucinoso/secundario , Neoplasias de la Coroides/secundario , Neoplasias Ováricas/patología , Adenocarcinoma Mucinoso/terapia , Adulto , Neoplasias de la Coroides/terapia , Terapia Combinada , Resultado Fatal , Femenino , Humanos , Neoplasias Ováricas/terapia
18.
Postgrad Med J ; 75(888): 585-90, 1999 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-10621898

RESUMEN

Cytomegalovirus (CMV) retinitis is the most common intra-ocular infection in patients with acquired immune deficiency syndrome (AIDS), and a leading cause of AIDS-related morbidity. Untreated CMV retinitis in AIDS patients is a progressive and potentially blinding disorder. The diagnosis of CMV retinitis is a clinical one and it is important for physicians to be familiar with the clinical features of the disease. Ophthalmic screening of AIDS sufferers should be undertaken at regular intervals, and this is dictated, in part, by the patient's CD4+ T-lymphocyte (CD4) counts. CMV retinitis may be treated with systemic ganciclovir, foscarnet or cidofovir, or with local (intravitreal) therpy. CMV-related retinal detachment is treated surgically. In some patients with quiescent CMV retinitis receiving highly active anti-retroviral therapy, anti-CMV maintenance therapy may be discontinued in favour of close ophthalmologic observation and CD4 count monitoring.


Asunto(s)
Retinitis por Citomegalovirus/complicaciones , Infecciones por VIH/complicaciones , Organofosfonatos , Fármacos Anti-VIH/uso terapéutico , Recuento de Linfocito CD4 , Cidofovir , Retinitis por Citomegalovirus/diagnóstico , Retinitis por Citomegalovirus/tratamiento farmacológico , Citosina/análogos & derivados , Citosina/uso terapéutico , Foscarnet/uso terapéutico , Ganciclovir/uso terapéutico , Humanos , Compuestos Organofosforados/uso terapéutico , Desprendimiento de Retina/patología , Desprendimiento de Retina/terapia , Desprendimiento de Retina/virología
19.
Br J Ophthalmol ; 81(2): 107-16, 1997 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-9059243

RESUMEN

AIM: To assess the morphological change in retinal topography using a scanning laser tomographer following macular hole surgery. To compare the results of scanning laser tomography with clinical evaluation and visual function assessment. METHODS: The sample for this pilot study comprised four eyes exhibiting different stages of macular hole formation preoperatively. Subjects were assessed preoperatively and at 1 and 3 months postoperatively. Each assessment included visual acuity, letter contrast sensitivity, clinical examination (including automated static perimetry), and scanning laser tomography. The Heidelberg retina tomograph (HRT) was used to acquire digitised scanning laser tomography images of the macula (10 degrees and 20 degrees fields). Surgery essentially comprised vitrectomy, peeling of the posterior hyaloid face, if still attached, and intraocular gas tamponade. The magnitude and significance of topographic change were determined postoperatively using the HRT topographic difference facility. RESULTS: Topographic difference analysis of the right and left eyes of case 1 showed a significant reduction in the height of the retina postoperatively. Topographic difference analysis of case 2 showed no significant change in topography. Topographic difference analysis of case 3 showed a significant increase in the height of the retina postoperatively. Scanning laser tomography agreed with clinical assessment based upon fundus biomicroscopy in three of the four eyes studied; the postoperative closure of the stage 2 macular hole (as noted by clinical assessment) proved to be too small to reach statistical significance. Scanning laser tomography agreed with the assessment of visual function in two eyes; the agreement between scanning laser tomography and visual function depends, in part, on the stage of development of the macular hole. CONCLUSION: Scanning laser tomography provides an objective evaluation of the outcome of macular hole surgery. Studies employing larger sample sizes are required to fully determine the clinical worth of the technique.


Asunto(s)
Rayos Láser , Perforaciones de la Retina/patología , Perforaciones de la Retina/cirugía , Tomografía/métodos , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Cuidados Posoperatorios/métodos , Resultado del Tratamiento , Agudeza Visual , Vitrectomía
20.
Hum Mol Genet ; 4(12): 2319-25, 1995 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-8634705

RESUMEN

The locus for ocular albinism type 1 (OA1) has been assigned to the Xp22.3 region through both linkage and deletion mapping. The disorder was found to be genetically homogeneous, as all informative families showed convincing linkage data with markers on Xp22.3 and all identified deletions involved in the same region. The OA1 gene recently was cloned and several intragenic deletions were identified in affected individuals. We have characterized the genomic structure of the OA1 gene, which spans approximately 40 kb of genomic DNA and contains nine exons. A highly polymorphic dinucleotide repeat was identified in intron 1, that provides a useful tool for molecular diagnosis. Knowledge of the intron/exon boundaries allowed us to search for point mutations in patients' genomic DNA. All nine exons of the OA1 gene, as well as the 5' and 3' untranslated regions, were scanned for point mutations in PCR-amplified DNA from 60 OA1 patients. The mutations identified include: two frameshifts and a splice site mutation leading to truncated OA1 proteins; a deletion of a threonine codon at position 290; and four missense mutations,two of which involve amino acids located within putative transmembrane domains. Two of the mutations each occur in three apparently unrelated families, consistent with previous observations of a founder effect in OA1. Surprisingly, mutations were detected in only one-third of the patients (21 of 60) ascertained. We postulate that mutations not yet identified in either regulatory elements of the OA1 gene, or in other gene(s) located within the same chromosomal region, may be common cause of X-linked ocular albinism.


Asunto(s)
Albinismo Ocular/genética , Proteínas del Ojo/genética , Glicoproteínas de Membrana , Proteínas de la Membrana/genética , Cromosoma X , Secuencia de Bases , ADN/genética , Repeticiones de Dinucleótido , Proteínas del Ojo/química , Proteínas de la Membrana/química , Datos de Secuencia Molecular , Mutación , Conformación Proteica
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