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1.
Arch Soc Esp Oftalmol (Engl Ed) ; 97(7): 409-412, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35779897

ABSTRACT

Intravascular papillary endothelial hyperplasia (IPEH) is characterized by proliferation of endothelial cells usually occurring within a long-standing vascular malformation or tumor. IPEH usually affects neck, head and lower extremities, and few orbital and eyelid cases have been reported. We present a unique case, a 48-years-old man with a purple, elevated, multilobular conjunctival lesion of three-weeks duration that underwent an excisional biopsy. Pathological features revealed intravascular papillary endothelial hyperplasia (Masson's tumor).


Subject(s)
Vascular Neoplasms , Conjunctiva/pathology , Endothelial Cells/pathology , Eyelids/pathology , Humans , Hyperplasia/pathology , Male , Middle Aged , Vascular Neoplasms/pathology
2.
Arch. Soc. Esp. Oftalmol ; 97(7): 409-412, jul. 2022. ilus, tab
Article in Spanish | IBECS | ID: ibc-209074

ABSTRACT

La hiperplasia endotelial papilar intravascular (IPEH) se caracteriza por la proliferación de células endoteliales generalmente producida dentro de una malformación vascular previa o un tumor. La IPEH suele afectar cuello, cabeza y extremidades inferiores, se han publicado pocos casos en la órbita ocular y párpados. Presentamos un caso único, un hombre de 48 años con una lesión conjuntival púrpura, elevada y multilobular de tres semanas de duración que se sometió a una biopsia excisional. Las características patológicas revelaron una hiperplasia endotelial papilar intravascular (tumor de Masson) (AU)


Intravascular papillary endothelial hyperplasia (IPEH) is characterized by proliferation of endothelial cells usually occurring within a long-standing vascular malformation or tumor. IPEH usually affects neck, head and lower extremities, and few orbital and eyelid cases have been reported. We present a unique case, a 48-year-old man with a purple, elevated, multilobular conjunctival lesion of three-weeks duration that underwent an excisional biopsy. Pathological features revealed intravascular papillary endothelial hyperplasia (Masson's tumor) (AU)


Subject(s)
Humans , Male , Middle Aged , Vascular Neoplasms/pathology , Endothelial Cells/pathology , Conjunctiva/pathology , Hyperplasia/pathology
3.
Arch Soc Esp Oftalmol (Engl Ed) ; 96(8): 401-407, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34340777

ABSTRACT

PURPOSE: To report, for the first time, the clinical outcomes and patient satisfaction of laser refractive surgery performed by a trainee during a corneal and refractive surgery fellowship program in Latin America. METHODS: This prospective and interventionist study reviewed the clinical charts of the first 100 consecutive refractive surgery cases performed by a single Cornea Fellowship trainee between March 2018 and June 2018 in the Blindness Prevention Association of Mexico (Asociación para Evitar la Ceguera en Mexico). Femtosecond LASIK was performed in all eyes. Visual and refractive outcomes were evaluated during the first year of follow-up. Patient satisfaction was measured using 5 author-created questions 6 months after surgery. RESULTS: Data of 100 eyes of 50 consecutive patients were evaluated. One year after the surgery, mean uncorrected distance visual acuity (UDVA) was 0.01 logMAR. Spherical equivalent error passed from -3.91 ± 2.28 D preoperatively to -0.22 ± 0.28 D. No eyes lost lines in corrected distance visual acuity (CDVA). Manifest refraction maintained stable during the first year after surgery. The five author-created questions revealed a high level of confidence and patient satisfaction. CONCLUSIONS: Femto-LASIK performed by a corneal and refractive surgery fellowship trainee showed good refractive and visual outcomes, as well as high patient satisfaction and confidence in a refractive surgery centre in Latin America.


Subject(s)
Fellowships and Scholarships , Keratomileusis, Laser In Situ , Myopia , Humans , Keratomileusis, Laser In Situ/education , Lasers, Excimer , Myopia/surgery , Patient Satisfaction , Prospective Studies , Treatment Outcome
4.
Arch. Soc. Esp. Oftalmol ; 96(8): 401-407, ago. 2021. tab, graf
Article in Spanish | IBECS | ID: ibc-218012

ABSTRACT

Objetivo Informar por primera vez sobre los resultados clínicos y la satisfacción de los pacientes operados de cirugía refractiva con láser por un fellow durante un programa de formación en cirugía corneal y refractiva en Latinoamérica. Métodos En este estudio prospectivo e intervencionista se revisaron las historias clínicas de los primeros 100 casos consecutivos de cirugía refractiva realizados por un solo fellow del departamento de córnea de la Asociación para Evitar la Ceguera en México entre marzo de 2018 y junio de 2018. La técnica LASIK asistida por femtosegundo se realizó en todos los ojos. Los resultados visuales y refractivos se evaluaron durante el primer año de seguimiento. La satisfacción del paciente se midió 6 meses después de la cirugía con 5 preguntas creadas por el autor. Resultados Se evaluaron datos de 100 ojos de 50 pacientes consecutivos. Después de 12 meses de la cirugía, la agudeza visual no corregida (AVNC) fue de 0,01logMAR. El equivalente esférico pasó de –3,91±2,28D preoperatoriamente a –0,22±0,28D. No se perdieron líneas en la agudeza visual mejor corregida (AVMC). La refracción manifiesta se mantuvo estable durante el primer año después de la cirugía. Las 5 preguntas creadas por el autor revelaron un alto grado de confianza y satisfacción del paciente. Conclusiones Los resultados refractivos y visuales obtenidos mediante Femto-LASIK por un fellow de cirugía corneal y refractiva fueron buenos. Del mismo modo se demostró una alta satisfacción y confianza del paciente en el cirujano en periodo de aprendizaje en un centro formativo de cirugía refractiva en Latinoamérica (AU)


Purpose To report, for the first time, the clinical outcomes and patient satisfaction of laser refractive surgery performed by a trainee during a corneal and refractive surgery fellowship program in Latin America. Methods This prospective and interventionist study reviewed the clinical charts of the first 100 consecutive refractive surgery cases performed by a single Cornea Fellowship trainee between March 2018 and June 2018 in the Blindness Prevention Association of Mexico (Asociación para Evitar la Ceguera en Mexico). Femtosecond LASIK was performed in all eyes. Visual and refractive outcomes were evaluated during the first year of follow-up. Patient satisfaction was measured using 5 author-created questions 6 months after surgery. Results Data of 100 eyes of 50 consecutive patients were evaluated. One year after the surgery, mean uncorrected distance visual acuity (UDVA) was 0.01logMAR. Spherical equivalent error passed from –3.91±2.28D preoperatively to –0.22±0.28D. No eyes lost lines in corrected distance visual acuity (CDVA). Manifest refraction maintained stable during the first year after surgery. The five author-created questions revealed a high level of confidence and patient satisfaction. Conclusions Femto-LASIK performed by a corneal and refractive surgery fellowship trainee showed good refractive and visual outcomes, as well as high patient satisfaction and confidence in a refractive surgery centre in Latin America (AU)


Subject(s)
Humans , Male , Female , Young Adult , Adult , Keratomileusis, Laser In Situ/education , Lasers, Excimer , Myopia/surgery , Patient Satisfaction , Prospective Studies , Treatment Outcome , Fellowships and Scholarships
6.
Arch. Soc. Esp. Oftalmol ; 89(8): 308-312, ago. 2014. ilus, graf
Article in Spanish | IBECS | ID: ibc-126030

ABSTRACT

OBJETIVO: Evaluar las diferencias de los nervios del estroma de la córnea entre sujetos normales y pacientes con queratocono. MÉTODOS: Un total de 140 ojos de 70 sujetos normales (grupo A) y 122 ojos de 87 pacientes con queratocono (grupo B), fueron evaluados con el microscopio confocal, realizando un rastreo central del espesor total de la córnea. La morfología y el espesor de los nervios fueron evaluados utilizando el programa Navis V. 3.5.0. El espesor de los nervios se obtuvo del promedio de la porción más delgada y la más gruesa de cada nervio. RESULTADOS: Los nervios del estroma se observaron como estructuras lineales de alta reflexión e irregulares, con porciones gruesas y angostas en todos los casos. El promedio del espesor de los nervios en el grupo A fue de 5,7 ± 1,7 (rango de 3,3 a 10,4 μ), en el grupo B fue de 7,2 ± 1,9 (rango de 3,5 a 12,0 μ). La diferencia en el espesor de los nervios entre el grupo A y el grupo B fue estadísticamente significativa (p < 0,05). CONCLUSIONES: La morfología de los nervios del estroma de la córnea fue similar en ambos grupos; el espesor de estos fue mayor en los pacientes con queratocono


OBJECTIVE: To evaluate the differences in stromal corneal nerves between normal patients and keratoconus patients. MATERIAL AND METHODS: A total of 140 eyes of 70 normal patients (group A) and 122 eyes of 87 keratoconus patients (group B) were examined with the confocal microscope, with a central scan of the total corneal thickness being taken. The morphology and thickness of the corneal stromal nerves were evaluated by using the Navis V. 3.5.0. software. Nerve thickness was obtained from the mean between the widest and the narrowest portions of each stromal nerve. RESULTS: Corneal stromal nerves were observed as irregular linear hyper-reflective structures with wide and narrow portions in all cases. Mean corneal stromal nerves thickness in group A was 5.7 ± 1.7 (range from 3.3 to 10.4 μ), mean corneal stromal nerves thickness in group B was 7.2 ± 1.9 (range from 3.5 to 12.0 μ). There was a statistical significant difference (P<0.05) in stromal corneal nerves thickness between group A and group B. CONCLUSION: Stromal corneal nerves morphology was similar in both groups, but stromal nerves were thicker in keratoconus patients


Subject(s)
Humans , Keratoconus/physiopathology , Cornea/innervation , Microscopy, Confocal/methods , Corneal Stroma/innervation , Case-Control Studies , Endothelium, Corneal/innervation
7.
Arch Soc Esp Oftalmol ; 89(8): 308-12, 2014 Aug.
Article in English, Spanish | MEDLINE | ID: mdl-24951326

ABSTRACT

OBJECTIVE: To evaluate the differences in stromal corneal nerves between normal patients and keratoconus patients. MATERIAL AND METHODS: A total of 140 eyes of 70 normal patients (group A) and 122 eyes of 87 keratoconus patients (group B) were examined with the confocal microscope, with a central scan of the total corneal thickness being taken. The morphology and thickness of the corneal stromal nerves were evaluated by using the Navis v. 3.5.0. software. Nerve thickness was obtained from the mean between the widest and the narrowest portions of each stromal nerve. RESULTS: Corneal stromal nerves were observed as irregular linear hyper-reflective structures with wide and narrow portions in all cases. Mean corneal stromal nerves thickness in group A was 5.7±1.7 (range from 3.3 to 10.4 µ), mean corneal stromal nerves thickness in group B was 7.2±1.9 (range from 3.5 to 12.0 µ). There was a statistical significant difference (P<.05) in stromal corneal nerves thickness between group A and group B. CONCLUSION: Stromal corneal nerves morphology was similar in both groups, but stromal nerves were thicker in keratoconus patients.


Subject(s)
Corneal Stroma/innervation , Corneal Stroma/pathology , Keratoconus/pathology , Microscopy, Confocal , Humans
8.
Arch. Soc. Esp. Oftalmol ; 89(1): 22-26, ene. 2014. ilus, tab
Article in Spanish | IBECS | ID: ibc-129250

ABSTRACT

INTRODUCCIÓN: La pars planitis (PP) es una uveítis intermedia idiopática que presenta múltiples complicaciones en el segmento posterior, las cuales incluyen el edema macular quístico o cistoideo (EM) y la formación de membranas epirretinianas (MER). Comúnmente se decide realizar tratamiento antiinflamatorio o inmunosupresor ante la presencia de EM. Sin embargo, este puede coexistir con la presencia de MER y, por lo tanto, existe la posibilidad de que el enfoque del tratamiento deba ser diferente. OBJETIVOS: Determinar la asociación que existe entre la presencia de MER con EM en PP. MATERIALES Y MÉTODOS: Serie de casos y controles donde se analizaron de manera retrospectiva los expedientes de pacientes con PP, todos ellos seguidos con angiografía con fluoresceína (AF) y tomografía de coherencia óptica de dominio espectral (SD-OCT). Se determinó la presencia de MER por SD-OCT, mientras que el EM fue determinado por AF. Se realizaron tablas de contingencia para determinar cómo influyen las MER como factores de riesgo para desarrollar EM. RESULTADOS: 31 ojos presentaron MER. 16 ojos presentaron EM. La razón de riesgo para presentar EM por MER fue de 0,971 con un valor de p determinada por χ2 de 0,77. CONCLUSIONES: No existe una asociación significativa entre la formación de MER y el desarrollo de EM. No existe evidencia que sugiera considerar un abordaje quirúrgico como primera línea de tratamiento ante la presencia de MER en PP


INTRODUCTION: Pars planitis (PP) is a form of intermediate uveitis that manifests with several posterior segment complications, including cystoid macular edema (CME) and epiretinal membrane formation (ERM). On the presence of CME the patient is usually treated with anti-inflammatory and/or immunosuppressive drugs. However the presence of CME may coexist with ERM formation, and therefore the treatment could be different. PURPOSE: To determine the association between ERM and CME in PP. MATERIALS AND METHODS: Case control series. The charts of patients diagnosed with PP were retrospectively reviewed. All patients had fluorescein angiogram (FA) and spectral domain optical coherence tomography (SD-OCT). Presence of ERM was determined by SD-OCT, while CME was determined by FA. Contingency tables were used to determine the risk of developing CME with ERM. RESULTS: 31 eyes presented ERM. 16 eyes presented CME. Relative risk to have CME and ERM was 0.971, with a P value of 0.77 (χ2). CONCLUSIONS: There is no association between ERM formation and the development of CME. There is no evidence to suggest a surgical approach as first line of treatment with the presence of ERM in PP


Subject(s)
Humans , Epiretinal Membrane/complications , Macular Edema/complications , Pars Planitis/complications , Tomography, Optical Coherence , Spectrometry, Fluorescence , Case-Control Studies
9.
Arch Soc Esp Oftalmol ; 89(1): 22-6, 2014 Jan.
Article in Spanish | MEDLINE | ID: mdl-24332688

ABSTRACT

INTRODUCTION: Pars planitis (PP) is a form of intermediate uveitis that manifests with several posterior segment complications, including cystoid macular edema (CME) and epiretinal membrane formation (ERM). On the presence of CME the patient is usually treated with anti-inflammatory and/or immunosuppressive drugs. However the presence of CME may coexist with ERM formation, and therefore the treatment could be different. PURPOSE: To determine the association between ERM and CME in PP. MATERIALS AND METHODS: Case control series. The charts of patients diagnosed with PP were retrospectively reviewed. All patients had fluorescein angiogram (FA) and spectral domain optical coherence tomography (SD-OCT). Presence of ERM was determined by SD-OCT, while CME was determined by FA. Contingency tables were used to determine the risk of developing CME with ERM. RESULTS: 31 eyes presented ERM. 16 eyes presented CME. Relative risk to have CME and ERM was 0.971, with a P value of 0.77 (χ(2)). CONCLUSIONS: There is no association between ERM formation and the development of CME. There is no evidence to suggest a surgical approach as first line of treatment with the presence of ERM in PP.


Subject(s)
Epiretinal Membrane/etiology , Macular Edema/etiology , Pars Planitis/complications , Adolescent , Adult , Case-Control Studies , Child , Epiretinal Membrane/pathology , Female , Fluorescein Angiography , Fovea Centralis/pathology , Humans , Macular Edema/pathology , Male , Pars Planitis/pathology , Retrospective Studies , Risk , Tomography, Optical Coherence , Young Adult
10.
Arch. Soc. Esp. Oftalmol ; 88(5): 179-183, mayo 2013. ilus
Article in Spanish | IBECS | ID: ibc-112660

ABSTRACT

Objetivo: Valorar in vivo los efectos en la córnea del tratamiento con cross-linking. Métodos: Dieciocho ojos de 18 pacientes con queratocono fueron tratados con cross-linking mediante el uso de solución de rivoflavina al 0,1% y radiados con luz ultravioleta A radiados a 370nm, 3mW/cm2 por 30 min. Se realizó microscopia confocal in vivo previo al tratamiento y a la semana y al mes después de la aplicación de cross-linking. Resultados: A la semana del tratamiento se encontró activación de queratocitos y organización de las fibras de colágena, observándose como estructuras hiperreflécticas desde la primera imagen subepitelial, hasta una profundidad del estroma corneal de 275,1 ± 85,9μm. Al mes del tratamiento se observaron queratocitos activados, así como organización de las fibras de colágeno desde la primera imagen subepitelial, hasta una profundidad del estroma corneal de 324,9 ± 66,0μm. Al mes del tratamiento, las estructuras hiperreflécticas más profundas se mostraron en forma de líneas gruesas hiperreflécticas. Conclusiones: La microscopia confocal in vivo en humanos tratados con cross-linking mostró cambios estromales a la semana y al mes del tratamiento, excediendo la profundidad de 300μm en algunos casos (AU)


Objective: To determine the effects of in vivo cross-linking treatment of the cornea. Methods: Eighteen eyes of eighteen keratoconus patients underwent cross-linking treatment using a 0.1% riboflavin solution and ultraviolet A radiation at 370nm at 3 mW/cm2 for 30minutes. In vivo confocal microscopy was performed before, and at 1 week and 1 month after treatment. Results: At 1 week after treatment, keratocyte activation and collagen fiber organization showed as hyper-reflective structures and were observed from the first sub-epithelial image to a corneal stromal depth of 275.1 ± 85.9μm. At 1 month after treatment, activated keratocytes and fiber organization were also observed from the first sub-epithelial image to a corneal stromal depth of 324.9 ± 66.0μm. The deepest hyper-reflective structures at 1 month showed as thick, linear-shaped hyper-reflective structures. Conclusion: In vivo confocal microscopy in humans showed corneal stromal changes at 1 week and 1 month after cross-linking treatment, in some cases at depths in excess of 300μm (AU)


Subject(s)
Humans , Microscopy, Confocal/methods , Cross-Linking Reagents/therapeutic use , Keratoconus/therapy , Corneal Stroma/physiopathology , Treatment Outcome
11.
Arch Soc Esp Oftalmol ; 88(5): 179-83, 2013 May.
Article in English, Spanish | MEDLINE | ID: mdl-23623018

ABSTRACT

OBJECTIVE: To determine the effects of in vivo cross-linking treatment of the cornea. METHODS: Eighteen eyes of eighteen keratoconus patients underwent cross-linking treatment using a 0.1% riboflavin solution and ultraviolet A radiation at 370 nm at 3 mW/cm² for 30 minutes. In vivo confocal microscopy was performed before, and at 1 week and 1 month after treatment. RESULTS: At 1 week after treatment, keratocyte activation and collagen fiber organization showed as hyper-reflective structures and were observed from the first sub-epithelial image to a corneal stromal depth of 275.1 ± 85.9 µm. At 1 month after treatment, activated keratocytes and fiber organization were also observed from the first sub-epithelial image to a corneal stromal depth of 324.9 ± 66.0 µm. The deepest hyper-reflective structures at 1 month showed as thick, linear-shaped hyper-reflective structures. CONCLUSION: In vivo confocal microscopy in humans showed corneal stromal changes at 1 week and 1 month after cross-linking treatment, in some cases at depths in excess of 300 µm.


Subject(s)
Cross-Linking Reagents/therapeutic use , Keratoconus/therapy , Microscopy, Confocal , Photosensitizing Agents/therapeutic use , Riboflavin/therapeutic use , Ultraviolet Therapy , Adult , Combined Modality Therapy , Corneal Stroma/drug effects , Corneal Stroma/radiation effects , Humans , Young Adult
12.
Ophthalmology ; 108(8): 1415-22, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11470692

ABSTRACT

OBJECTIVE: To determine the frequency of changes in posterior corneal surface after laser in situ keratomileusis (LASIK) and photorefractive keratectomy (PRK). DESIGN: Nonrandomized, comparative trial. PARTICIPANTS: Ninety-five eyes (71 patients) that underwent PRK (n = 45) or LASIK (n = 50). CONTROLS: Twenty nonsurgery eyes were used to validate the method of analysis of the posterior corneal curvature (PCC). Seventy nonsurgery eyes were used for comparisons. METHODS: Float, apex-fixed best fit corneal curvature (ABC), and posterior elevation difference were evaluated in 20 elevation topography maps at 6 zone diameters (3-7 and 10 mm) and at two time points. Corneal elevation maps before and after PRK or LASIK were analyzed by the ABC and float methods and compared with a nonsurgery group. MAIN OUTCOME MEASURES: Posterior corneal curvature change (mm) was classified as flattening, steepening, or no change. RESULTS: Flattening of more than 0.12 mm was found in 22.2% of eyes (n = 10) in the PRK group, a change of +/-0.12 mm was found in 53.3% of eyes (n = 24), and steepening of more than 0.12 mm was found in 24.4% of eyes (n = 11) using the float method and in 28.9% of eyes (n = 13), 35.6% of eyes (n = 16), and 35.6% eyes (n = 16), respectively, using the ABC method. In the LASIK group, the float method registered flattening in 20% of eyes (n = 10), no change in 52% of eyes (n = 26), and steepening in 28% of eyes (n = 14), whereas the ABC method registered flattening in 30% of eyes (n = 15), no change in 40% of eyes (n = 20), and steepening in 30% of eyes (n = 15). The nonsurgery group showed a similar change in PCC at two different time points similar to that of the PRK and the LASIK groups. CONCLUSIONS: The differences observed in the PCC after PRK or LASIK were not statistically significantly different from those observed over time in the nonsurgery control group.


Subject(s)
Anterior Chamber/pathology , Cornea/surgery , Corneal Topography , Keratomileusis, Laser In Situ , Myopia/surgery , Photorefractive Keratectomy , Adult , Female , Humans , Lasers, Excimer , Male
13.
Ophthalmology ; 105(4): 631-6, 1998 Apr.
Article in English | MEDLINE | ID: mdl-9544636

ABSTRACT

OBJECTIVE: This study aimed to describe the morphology of cystic disorders of the corneal epithelium by confocal microscopy. DESIGN: The study design was a prospective evaluation of confocal microscopic images of patients with cystic corneal disorders. PARTICIPANTS: Thirteen patients (19 eyes) were included. The corneal disorders included four patients with corneal decompensation (Fuchs' dystrophy), five patients with epithelial basement membrane dystrophy (e.g., Cogan's microcystic and map-dot dystrophies), one patient with Meesmann's dystrophy, and three patients with recurrent erosion syndrome of unknown etiology. Confocal images of diseased corneas were compared with those of ten normal control eyes (ten subjects). INTERVENTION: All patients were examined by slit-lamp biomicroscopic analysis and confocal microscopic analysis (Tomey, Erlangen-Temmenlohe, Germany). Image analysis was used to identify the corneal epithelial structures correlated with the corresponding pathology. MAIN OUTCOMES MEASURES: Confocal microscopy was used to assess the size, shape, light scatter, and reflection of the cysts. RESULTS: Slit-lamp examination results showed corneal epithelial cystic lesions in all cases. Confocal microscopy was able to identify cystic lesions in 9 (69.2%) of 13 patients. Of the four patients in whom lesions could not be found by confocal microscopy, three had recurrent erosion syndrome and the other one had epithelial basement membrane dystrophy. The confocal images were compatible with the clinical and histologic pictures of the disease. Normal control eyes did not show any epithelial lesion, either by biomicroscopy or confocal microscopy. CONCLUSIONS: Confocal microscopy provides an in vivo evaluation of cystic epithelial corneal lesions. This study shows that confocal microscopy is suitable for examining cystic lesions of the corneal epithelium. Nevertheless, it is not as sensitive as biomicroscopy in detecting cystic lesions in certain corneal conditions.


Subject(s)
Corneal Diseases/pathology , Cysts/pathology , Epithelium, Corneal/pathology , Microscopy, Confocal , Humans , Image Processing, Computer-Assisted , Prospective Studies
14.
J Fr Ophtalmol ; 20(8): 611-3, 1997.
Article in French | MEDLINE | ID: mdl-9515121

ABSTRACT

Two cases of bilateral Thygeson's keratitis were examined by in vivo confocal microscopy. In the corneas, fine deposits of highly reflected material appeared immediately below the basal lamina. This is the first time that such morphological features are described in patients with Thygeson's keratitis.


Subject(s)
Keratitis/diagnosis , Adolescent , Adult , Female , Humans , Male , Microscopy, Confocal , Reproducibility of Results
15.
Retina ; 14(1): 6-9, 1994.
Article in English | MEDLINE | ID: mdl-8016465

ABSTRACT

PURPOSE: Multiple, bilateral areas of congenital hypertrophy of the retinal pigment epithelium (CHRPE) have been described in association with familial adenomatous polyposis (FAP). Histopathologic findings have suggested a generalized effect of the FAP gene on the RPE, which could impair the functional integrity of the RPE. The clinical, psychophysical, electrophysiologic, and fluorescein angiographic findings in CHRPE in subjects with FAP were assessed. METHODS: RPE function was assessed in 7 subjects with CHRPE and a family history of FAP. Four had documented FAP (mean age = 22.25 years) and the other three were siblings of affected subjects, with a 50% risk of developing FAP (mean age = 6.33 years). All subjects underwent comprehensive ophthalmologic examination. RESULTS: All subjects showed mild hyperopia (mean, +1.13 D; best corrected visual acuity, 20/20 or better). On perimetry, there were scotomas corresponding to some lesions. ERG showed normal rod, maximal, single-flash cone, and flicker responses. Light-dark ratio was within the normal range on EOG. Fluorescein angiography demonstrated normal retinal vasculature overlying the CHRPE lesions, which blocked background choroidal fluorescence. A normal choriocapillaris was observed through some hypopigmented lacuna. CONCLUSION: CHRPE has been related to generalized expression of an abnormal gene in RPE, but its functional abnormalities tend to be localized.


Subject(s)
Adenomatous Polyposis Coli/genetics , Pigment Epithelium of Eye/pathology , Adenomatous Polyposis Coli/complications , Adenomatous Polyposis Coli/physiopathology , Adult , Biomarkers , Child , Electrooculography , Electroretinography , Female , Humans , Hypertrophy/congenital , Male , Pedigree , Pigment Epithelium of Eye/physiopathology , Visual Acuity
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