Idiopathic macular telangiectasia. 2006.

OBJECTIVES: To review the frequency and nature of idiopathic macular telangiectasia and to classify the disorders based on new clinical and imaging observations. METHODS: A combined retrospective and prospective analysis of newly diagnosed patients seen over a period of 3 years. Patients were identified based on the Gass-Blodi classification and were studied with biomicroscopy, fluorescein angiography, and optical coherence tomography. RESULTS: Ten patients associated with aneurysmal telangiectasia (Gass-Blodi group 1) and 26 patients with perifoveal telangiectasia (Gass-Blodi group 2) were recruited. None with occlusive telangiectasia (Gass-Blodi group 3) were identified. New observations based on clinical, fluorescein angiographic, and optical coherence tomographic findings were made. CONCLUSIONS: Our series was similar to that in the Gass-Blodi study in terms of frequency. New observations in groups 1 and 2 have expanded our knowledge of the clinical spectrum of these disorders. A simplified classification termed idiopathic macular telangiectasia with 2 distinct types (type I, or aneurysmal telangiectasia, and type II, or perifoveal telangiectasia) was proposed to produce a better understanding of the entities and to enhance teaching and research. The third type, occlusive telangiectasia, has been omitted from our classification based on its rarity and presence of capillary nonperfusion rather than macular telangiectasia as the primary abnormality.

BILATERAL DIFFUSE UVEAL MELANOCYTIC PROLIFERATION ASSOCIATED WITH RENAL CANCER: THE IMPORTANCE OF INDOCYANINE GREEN ANGIOGRAPHY AND EARLY DIAGNOSIS.

PURPOSE: To report a case of bilateral diffuse uveal melanocytic proliferation associated with renal carcinoma and to illustrate the importance of ancillary examinations to early diagnosis and treatment. DESIGN: Clinical case report. METHODS: A 56-year-old man reported a 3-day history of visual impairment and scotoma in the right eye. An ophthalmoscopic examination, visual field test, fundus autofluorescence, fluorescein angiography, indocyanine green angiography, optical coherence tomography, and systemic evaluation were performed. RESULTS: Fundus examination showed multiple nevus-like uveal pigmented lesions bilaterally. Optical coherence tomography showed a subfoveal serous retinal detachment and focal loss of the retinal pigment epithelium with adjacent areas of retinal pigment epithelial thickening in the right eye, explaining the scotoma on the visual field examination. Indocyanine green angiography showed multiple round areas of hypofluorescence corresponding to the nevus-like pigmented tumors seen on funduscopy, and retinal pigment epithelium damage corresponding to hypoautofluorescence on fundus autofluorescence imaging and window defects points seen on fluorescein angiography bilaterally. After bilateral diffuse uveal melanocytic proliferation diagnosis, a systemic workup showed clear cell carcinoma in the left kidney. Owing to the tumoral size, chemotherapy was administered. CONCLUSION: Renal carcinoma associated with bilateral diffuse uveal melanocytic proliferation is rare, and the patterns observed in the ancillary examinations, including indocyanine green angiography, are useful for early-stage diagnosis and immediate referral for systemic investigation and treatment.

Idiopathic macular telangiectasia.

OBJECTIVES: To review the frequency and nature of idiopathic macular telangiectasia and to classify the disorders based on new clinical and imaging observations. METHODS: A combined retrospective and prospective analysis of newly diagnosed patients seen over a period of 3 years. Patients were identified based on the Gass-Blodi classification and were studied with biomicroscopy, fluorescein angiography, and optical coherence tomography. RESULTS: Ten patients associated with aneurysmal telangiectasia (Gass-Blodi group 1) and 26 patients with perifoveal telangiectasia (Gass-Blodi group 2) were recruited. None with occlusive telangiectasia (Gass-Blodi group 3) were identified. New observations based on clinical, fluorescein angiographic, and optical coherence tomographic findings were made. CONCLUSIONS: Our series was similar to that in the Gass-Blodi study in terms of frequency. New observations in groups 1 and 2 have expanded our knowledge of the clinical spectrum of these disorders. A simplified classification termed idiopathic macular telangiectasia with 2 distinct types (type I, or aneurysmal telangiectasia, and type II, or perifoveal telangiectasia) was proposed to produce a better understanding of the entities and to enhance teaching and research. The third type, occlusive telangiectasia, has been omitted from our classification based on its rarity and presence of capillary nonperfusion rather than macular telangiectasia as the primary abnormality.

[Importance of the ophthalmological evaluation in newborns]. / Importância da avaliação oftalmológica em recém-natos.

OBJECTIVE: To verify the existence of ocular diseases in the first 48 hours of life of newborns and relate it to the clinical suspicious of pediatricians. METHODS: A prospective study was performed. All infants that were born between July and December of 2000 were evaluated in the nursery of Hospital Universitário Evangélico de Curitiba (HUEC). Six hundred sixty-seven newborns were evaluated through a protocol by residents and tutors of ophthalmology, regardless of pediatricians suspicious of ocular disorder. The examination consisted of inspection, oblique illumination, evaluation of ocular deviation and direct ophthalmoscopy (red reflex) in all patients. RESULTS: Among all examined newborns, 3.75% showed some ocular disease. The most frequent problem was corneal opacity. The ocular diseases were not noticed by pediatricians, neonatologists and parents in fifty-six per cent of the cases presenting some problem. CONCLUSIONS: This study showed that many ocular disorders presented at birth are not noticed by pediatricians (56%), which highlights the importance of ophthalmological evaluation in all newborns as a routine examination in the first 48 hours of life.

ATM gene variants in patients with idiopathic perifoveal telangiectasia.

PURPOSE: To investigate the prevalence of sequence variants in the ATM gene and to determine the frequency of major age-related macular degeneration (AMD)-associated variants in CFH, CFB, and 10q26 loci in patients with idiopathic perifoveal telangiectasia (IPT). METHODS: Thirty patients with diagnoses of IPT underwent standard ophthalmologic evaluation that included visual acuity testing, fundus photography, and fluorescein angiography. DNA was screened for variations in the ATM gene by a combination of denaturing high-performance liquid chromatography and direct sequencing. Major AMD-associated alleles in CFH, CFB, and 10q loci were screened by PCR-restriction fragment-length polymorphism. RESULTS: Nineteen female and 11 male patients (average age, 59 years) with a median visual acuity of 20/50 were evaluated. Six patients were of Asian-Indian origin, one was Hispanic, and 23 were of European-American ancestry. Nine of 30 (30%) patients had diabetes mellitus, 18 of 30 (60%) patients had hypertension, and 12 of 30 (40%) patients had a history of smoking. Screening of the ATM gene revealed a null allele in 2 of 23 (8.7%) patients of European ancestry, previously disease-associated missense alleles in 4 of 23 (17.4%) patients, and common missense alleles in 7 of 23 (30.4%) patients. No variants were identified in the ATM gene in patients of Asian or Hispanic origin. Frequencies of major AMD-associated alleles in CFH, CFB, and 10q loci in the IPT cohort were similar to those in the ethnically matched general population. CONCLUSIONS: At least 26%, and maybe up to 57%, of IPT patients of European-American descent carried possibly disease-associated ATM alleles. Vascular risk factors such as hypertension, diabetes, and smoking may be associated with the pathogenesis of the disease.

Importância da avaliação oftalmológica em recém-natos / Importance of the ophtalmological evaluation in newborns

Objetivo: verificar a existência de afecções oculares, nas primeiras 48 horas de vida de recém-natos, e relacioná-las com a suspeita clínica dos pediatras.Métodos: realizou-se um estudo prospectivo em que todos os recém-natos no período de julho a dezembro de 2000 foram examinados no alojamento conjunto do Hospital Universitário Evangélicode Curitiba (HUEC). Seiscentos e sessenta e sete recém-natos foram avaliados, através de um protocolo, por médicos residentes e preceptores de oftalmologia, independentemente se havia ou não qualquer suspeita de alteração ocular pelo pediatra. Procedeu-se à inspeção,iluminação oblíqua, avaliação de desvio ocular e oftalmoscopia direta à distância (reflexo vermelho) em todos os pacientes.Resultados: em 3,75 por cento dos pacientes avaliados, encontrou-se alguma alteração ocular. A principal afecção ocular foi a opacidade corneana, detectada pelo exame de reflexo vermelho à distância.Cinqüenta e seis por cento dos recém-natos portadores de patologia ocular passaram despercebidos pelos pediatras, neonatologistas e pais.Conclusão: este estudo demonstrou que a maioria das desordens oculares presentes ao nascimento não é diagnosticada pelos pediatras (56 por cento), evidenciando, desta forma, a importância do exameoftalmológico como rotina no atendimento ao recém-nato nas primeiras 48 horas de vida