Benign Familial Fleck Retina

3Assistant Professor, Department of Ophthalmology, Krishna Institute of Medical Sciences, Karad, Maharashtra, INDIA. Abstract Familial fleck retina is a rare inherited retinal disease. Sabel Aish & Dajani (1980) first reported ocular findings in seven of 10 siblings in one Arab family. It is an autosomal-recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiological deficits . Affected individuals are asymptomatic with a large number of yellow−white flecks of variable size and shape in the midperipheral to far peripheral retina, but did not have any ocular complaints such as loss of visual acuity (VA), impaired visual fields and dark adaptation disturbances. Fluorescein angiograms documented an irregular and spotty hyperfluorescence throughout the retina (sparing the macula). This report discusses a case of 22 year old female of both eye Benign familial fleck retina.


INTRODUCTION:
Benign fleck retina refers to an autosomalrecessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiological deficits. (1) Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, flecklike lesions extending to the far periphery of the retina but sparing the foveal region. (2)(3)(4)(5) The phenotype associated with benign fleck retina was first described in 1980 in seven affected siblings born to consanguineous parents. (2) A similar clinical appearance was subsequently reported in three unrelated individuals originating from diverse ethnic backgrounds. (3)(4)(5) Elucidating the genetic basis of human ocular phenotypes such as that of benign fleck retina remains a major goal because it will provide important insights into the complex biochemistry and cellular physiology of the human eye.
A 22-year-old female who presented with headaches. She gave no history of ophthalmic or systemic disease. On examination her visual acuities were (RE) 6/6 and (LE) 6/6(p) corrected to 6/6 with -0.50 DC 140 in Left eye. The anterior segments of both eyes were normal, and the intraocular pressures were within normal limits. Central and peripheral visual fields did not show any abnormalities, and dark adaptometry was normal. Fundoscopy showed that in both eyes the fundi were invaded by an enormous number of bright white and sometimes yellowish white flecks of variable size and configuration, arranged in a concentric pattern around the posterior fundus and sparing the optic disc, macula, papillomacular area as well as 1-2 disc diameters circular region surrounding the disc and macula. They spread everywhere in the equator and mid and extreme periphery of fundus. The more centrally located flecks appeared sparse, small, round, and dot-like. Others of larger size in the equatorial and peripheral areas

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varied in shape, being, round, elongate, pisciform, star-shaped, and sometimes circular. The flecks were always discrete, well defined, with almost sinuous margins and a flat or prominent surface. They appeared to be solid and well behind the retinal vascular tree. Throughout the fundus they showed the same mosaic appearance. They spared no area in the periphery. No pigmentary disturbances, calcification or conglomeration was observed, nor were choroidal vessels observed.   Massive mosaic hyaline excrescences along the cuticular layer of Bruch's membrane, leading to the appearance of multiple deep yellow to yellowish white lesions of variable size and shape in the fundi have been well known for more than a century. (1-3) Many forms of this condition have been described with different findings, prognosis, and inheritance (4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15) . Kril (16,17) regarded all these conditions as fleck retina diseases. He then classified them into 4 groups: fundus albipunctatus, fundus flavimaculatus, familial drusens, and fleck retina of Kandori. This classification with subgrouping according to the severity of the condition seemed to bring order into the confusion that had lasted for a century. In this paper we present a family with flecked retina, with typical fundoscopy picture and normal visual findings. We suggest they belong to a fifth group benign familial fleck retina.
Clinically there was no night blindness or any delay in dark adaptation. OCT, discrete deposit accumulation located posterior to the photoreceptor inner/outer segment junction but without disrupting it is observed. Normal full-field and pattern ERGs confirm the diagnosis; (15) multifocal ERG may be slightly subnormal in some isopters. (16) Recessive mutations in the gene encoding group V phospholipase A 2 (PLA2G5) and mildly elevated low-density lipoprotein and total cholesterol levels have been identified in some individuals with benign fleck retina. (17) Benign fleck retina should not be confused with "fleck retina of Kandori." The latter is associated with large white lesions, possibly atrophic changes, and night-blindness. (18) It is not clear if "fleck retina of Kandori" is a genetic condition or even an independent clinical entity.
The main features of the different types of flecked retina disorders reported in the literature are summarised below Table 1 Benign familial fleck retina is inherited as an autosomal recessive condition. This is supported by the fact that both sexes were involved and that both parents were free of the disease.