AN ATYPICALLY DISTRIBUTED FLECK CASE WITH MULTIPLE RETINAL PIGMENT EPITHELIAL DETACHMENTS

A 45-year-old female patient presented with complaints of blurred vision and metamorphopsia with a duration of 2 months. Visual acuities were 0.1 in the right eye and 1.0 in the left eye. Fundus examination revealed bilateral, subretinal, round and yellow-white flecks with scattered localization in the fovea, macula and peripheral retina. Flecks were mostly concentrated in the macula and midperipheral fundus however were rare in the peripheral fundus. In fluorescein angiography, flecks were stained as well-demarcated hyperfluorescent lesions. In optical coherence tomography, there were hyperreflective lesions at the level of retinal pigment epithelium and outer retinal layers along with hyporeflective dome-shaped pigment epithelial detachments. No genetic predisposition was found. As a consequence of these findings, the patient was diagnosed with an atypically distributed fleck case with multiple retinal pigment epithelial detachments. Introduction Flecked retina syndromes, which was first defined by Krill and Klien in 1965, was used for a group of diseases in which yellow or white deep retinal lesions of different sizes and configurations without vascular pathology and optic disc pathology were seen in a limited region or in the entire fundus (1,2). Although it was first used for a group of diseases that included fundus flavimaculatus, fundus albipunctatus, familial drusen, and fleck retina of Kandori, many other diseases such as retinitis punctata albescens, Bietti's crystalline dystrophy, and Kjellin’s syndrome were added to this group (1-3). Diseases in which retinal flecks are observed can be isolated or they can also be seen as a part of a systemic disease such as Alport's syndrome, Sjogren-Larsson syndrome, Pseudoxanthoma elasticum, cystinosis, oxalosis, membrano- proliferative glomerulonephritis, and vitamin A deficiency (2-5). Case Report A 45-year-old female patient, who had been followed up with a diagnosis of age-related macular degeneration for two years in another hospital, presented with complaints of blurred vision and metamorphopsia, more severely in her right eye, which she said to have started 2 months ago. The best corrected visual acuities were 0.1 in the right eye and 1.0 in the left eye. There was no color vision deficiency. There was no complaint of nyctalopia, photosensitivity, or hemeralopia. Visual acuities in light and dark environments were equal. There was no pathology in anterior segment examinations and intraocular pressures were 16 mmHg and 15 mmHg in the right and left eye, respectively. Fundus examination revealed bilateral, subretinal, round and yellow-white flecks with scattered localizations in the fovea, macula and peripheral retina. The diameter of the lesions was approximately one to two times the diameter of the retinal artery. Some of the lesions were merged with each other. Flecks were mostly concentrated in the macula and midperipheral fundus however were rare in the peripheral fundus. Optic disc and vascular structures were normal, and there were no signs of ocular inflammation (Figure 1). In fundus fluorescein angiography, flecks showed hyperfluorescent staining with well-demarcated borders and there were no signs of choroidal neovascularization or leakage (Figure 2). In optical coherence tomography, there were hyperreflective lesions at the level of retinal pigment epithelium and outer retinal layers along with hyporeflective dome-shaped pigment epithelial detachments. No subretinal fluid was observed. (Picture 3). There was not any visual field defect. The patient had no other systemic disease or medication. There was no family history of retinal pathology. No pathology was found in the ophthalmological and systemic examination of her first-degree relatives. The patient was consulted for genetic diseases and no genetic disease was found. With these findings, the patient was diagnosed with an atypically distributed fleck case with multiple retinal pigment epithelial detachments and any treatment was not recommended. No progression was detected and visual acuities were stable during the 12- month follow-up. DISCUSSION In this study, we report a case of late-onset, centrally and peripherally-located flecks accompanied by multiple retinal pigment epithelial detachments. Retinal flecks can be seen in a number of diseases with different characteristics (2,3). Stargardt's disease is a disease that usually begins in the second decade and macular atrophy and retinal flecks that spread to the posterior pole were seen. Fundus flavimaculatus is the phenotype of Stargardt’s disease in which flecks are distributed in the fundus (6,7). The case we report differs from Stargardt's disease in that it has a late onset and does not have macular atrophy. Benign fleck retina is an asymptomatic disease in which diffuse flecks spread to the peripheral retina with distinctive appearance but the fovea is spared (8,9). Our case was distinguished from benign fleck retina in that it is symptomatic and has a different fleck spread pattern. Fundus albipunctatus and retinitis punctata albescens, which are among other flecked retinal diseases, differ from the case we reported in terms of causing nyctalopia and sparing fovea (10,11). Macular atrophy and retinal pigment epithelium atrophy can be seen in flecked retinal diseases (2,12,13). Retinal pigment epithelial detachments may also accompany flecked retinal diseases, as seen in our case and in the case of Garcia et al. (9). Because retinal flecks are confused with drusen and both retinal atrophy and pigment epithelial detachment are seen in flecked retinal diseases, it may be misdiagnosed as age-related macular degeneration and lead to medical malpractice. In this respect, it is important to distinguish flecks from drusen. Drusen, which are the typical lesion of age-related macular degeneration, are seen as lesions of varying sizes located between the retinal pigment epithelium and Bruch's membrane (14). On the contrary, flecks begin at the level of the retinal pigment epithelium and migrate to the outer retinal layers over time (13,15). Flecked retinal diseases are usually autosomal recessive diseases, and family screening is therefore important. In addition, they may be as a part of some syndromes, such as Alport syndrome, Sjogren-Larsson syndrome, and pseudoxanthoma elasticum (2). Our case was screened for systemic diseases and consulted for genetic diseases; however, no accompanying pathology was found. In addition, first-degree relatives were scanned in terms of ocular and systemic aspects and no ocular and systemic pathology was found. The case was, therefore, evaluated as an isolated flecked retinal disease. In conclusion, the presented case was evaluated as an atypical and educative case in that it is an isolated fleck case, has different clinical features from reported flecked diseases, and can easily be confused with age-related macular degeneration due to the accompanying pigment epithelial detachment.

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