Benign Familial Fleck Retina

Rohini Sangoram,V. H. Karambelkar,Gaurav Paranjpe

doi:10.15520/jcmro.v3i10.354

Rohini Sangoram, V. H. Karambelkar + Show 1 more

Open Access

https://doi.org/10.15520/jcmro.v3i10.354

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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.

Highlights

(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 DISCUSSION: Benign familial fleck retina is inherited as an autosomal recessive condition
The term ”flecked retina” was introduced by Krill and Klien to describe fundus conditions characterized by multiple yellowish-white lesions of various size and configuration, without vascular or optic nerve abnormalities

Summary

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. 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. Calcification or conglomeration was observed, nor were choroidal vessels observed

DISCUSSION

BENIGN FAMILIAL FLECK RETINA