An ophthalmologic examination with color perception, fluorescein angiography, and ocular electrophysiology was performed. A ringlike hyperfluorescence is typically found in fluorescein angiographic images. Electroretinogram ERG is usually normal or slightly abnormal 1 , 2. Patients with BCAMD do not have a prior history of regular chloroquine intake or symptoms related to photoreceptors dystrophy, such as photophobia and severely defective color vision 1. His past medical history and family medical history were unremarkable. He did not refer photophobia or history use of regular oral medications.
|Published (Last):||12 December 2018|
|PDF File Size:||4.48 Mb|
|ePub File Size:||16.62 Mb|
|Price:||Free* [*Free Regsitration Required]|
An ophthalmologic examination with color perception, fluorescein angiography, and ocular electrophysiology was performed. A ringlike hyperfluorescence is typically found in fluorescein angiographic images.
Electroretinogram ERG is usually normal or slightly abnormal 1 , 2. Patients with BCAMD do not have a prior history of regular chloroquine intake or symptoms related to photoreceptors dystrophy, such as photophobia and severely defective color vision 1. His past medical history and family medical history were unremarkable.
He did not refer photophobia or history use of regular oral medications. He was initially treated in another clinic in Rio de Janeiro, where the disorder was diagnosed as cone rod dystrophy.
Anterior segment biomicroscopy was normal in OU. Fundoscopy evaluation had shown bilateral area of perifoveal hypopigmentation with an annular conformation and a concentric aspect in the macular region, but sparing the center of the fovea figure 1.
Fundus periphery was normal. The Farnsworth-Munsell D15 color test was performed, which presented no visual dysfunction. The standard ERG was normal figure 3. The parameters were abnormal on the pattern Visual evoked potential VEP , presenting decreased amplitude and prolongation of the latency figure 4. In 3 years of follow up, he did not show any changes in visual acuity, maintaining the same fundoscopy and angiographic findings and ERG without abnormalities.
After that, he did not return to an appropriate follow-up in our service. BCAMD is a highly unusual disorder 3. A search on the terms "annular" "macular" and "dystrophy" on PubMed website found 11 original related articles. After the initial report by Deutman in , the term "benign" was applied to a general condition of a good visual acuity as part of one of the main clinical features of the BCAMD 1 , 3.
While patients frequently show a "benign" course with good visual acuity for a long time, others may present a pronounced involvement of the peripheral retina associated with a severe photoreceptor dysfunction 1 , 3. A long term follow-up study of an affected Dutch family showed that there was a pronounced involvement of the peripheral retina, increased photoreceptor dysfunction, waxy optic disc, arteriolar attenuation and further decline of the ERG, as found in retinitis pigmentosa 2 , 3.
Regarding color vision defects in BCAMD, the existence of defects in the blue yellow axis is predominant, though not constant. Some studies showed mild defects only, without any predominant axis of confusion 1 , 5 , 6.
The ERG is typically normal or slightly abnormal 1 , 3. The normal findings obtained on ERG suggest that this is a focal dysfunction rather than a generalized fundus disorder, but some testing revealed a photoreceptor dysfunction with a slight predominance of rod dysfunction above cone dysfunction 1 , 2 , 7. It was thought that they had a similar condition with BCAMD, but no signs at all of an autosomal dominantly disease 8. The optic coherence tomography OCT findings in this condition may suggest new pathological abnormalities.
A limitation of our case report is the absence of the OCT images, because the patient was examined prior to OCT introduction in clinical practice, and, after that, he did not return to an appropriate follow-up. However, OCT alterations are mild and, to our knowledge, have been described only in one case report in , in which they did not contribute to establish the diagnosis 3.
The abnormalities include high and low reflectivity areas under the RPE, similar to the OCT findings seen in adult vitelliform macular dystrophy. The relatively normal neurosensory retina at the fovea probably explains the good visual acuity and mild ERG abnormalities 3. The angiographic aspect, family history and hereditary pattern are the most relevant data when determining a differential diagnosis among variable clinical conditions 1.
Retinopathy secondary to anti malarial drugs requires a history of sustained intake of chloroquine or hydroxychloroquine. Symptoms and clinical signs, such as photophobia, progressive central vision loss, important defect in color vision and an extremely altered photopic electroretinogram are found in cone rod dystrophy 1 , 2.
The characteristic "silent" choroidal angiographic and the altered electrooculogram are also important to its diagnosis 1. Arch Soc Esp Oftalmol. The benign concentric annular macular dystrophy locus maps to 6p Invest Ophthalmol Vis Sci. Optical coherence tomography findings in benign concentric annular dystrophy.
Benign concentric annular macular dystrophy. Am J Ophthalmol. Evolution of benign concentric annular macular dystrophy. Klin Monbl Augenheilkd. Annular macular dystrophy. Bull's eye maculopathy and negative electroretinogram.
E-mail: luisasmmendonca gmail. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Services on Demand Journal. Relato de Casos Benign concentric annular macular dystrophy. Received: October 14, ; Accepted: January 13, How to cite this article.
Você conhece esta síndrome?
Stargardt disease is the most common inherited single-gene retinal disease. It is characterised by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision. Presentation usually occurs in childhood or adolescence, though there is no upper age limit for presentation. The main symptom is loss of visual acuity, uncorrectable with glasses. This is manifest as the loss of the ability to see fine details when reading or seeing distant objects. There is a wide variation between individuals in the symptoms experienced as well as the rate of deterioration in vision. Peripheral vision is usually less affected than fine, central foveal vision.
What Is Juvenile Macular Dystrophy?
Juvenile macular dystrophy sometimes called juvenile macular degeneration is a group of inherited eye disorders that affects children and young adults. Juvenile macular dystrophy is different from age-related macular degeneration AMD. The macula gives you your central vision and allows you to see fine details clearly. The macula makes up only a small part of the retina, yet it is much more sensitive to detail than the rest of the retina called the peripheral retina. The macula is what allows you to thread a needle, read small print, and read street signs.
Descubren una mutación de un gen que causa la distrofia macular de la retina