Four-Generation Familial Benign Fleck Retina

Abstract

The authors report a case of benign familial flecked retina with possible autosomal dominant inheritance, based on a pedigree analysis of four-generations. A total of eight affected individuals were identified from one family, none who had ocular abnormalities aside from the retinal flecks. The authors also describe a progressive age-dependent darkening and confluence of flecks with time with typical phenotypic expression between 1 and 2 years. W e describe a four-generation family with multiple subjects affected with benign fleck retina. None of the eight affected individuals had any ocular abnormalities other than the retinal findings, and results of electrophysiological testing were normal. Pedigree analysis suggests a possible autosomal dominant inheritance with phenotype expression between 1 year and 2 years. Case ReportA 14-year-old boy presented for a routine eye examination. He had a history of occasional headaches with no specific ocular complaints. At examination, best-corrected visual acuity was 20/20 in both eyes. The anterior segments were unremarkable. Fundus examination revealed multiple cream discreet flecks scattered uniformly across the retina in both eyes, sparing the fovea (Fig. 1). Slit-lamp biomicroscopy demonstrated that the lesions were flat and not raised and the retinal vessels were coursing normally over them. The flecks were distributed in a concentric pattern around the posterior fundus with a varied configuration, the centrally located flecks being round to oblong and the more peripheral flecks extending up to the equator being larger in dimension with sinusoidal or amoeboid outlines. The disks and maculae appeared normal, and the retinal vessels were of normal diameter and distribution. Visual fields were normal in both eyes. Fundus fluorescein angiography showed multiple discrete hyperfluorescent lesions in the early frames. The intensity of hyperfluorescence decreased in the late frames of the angiogram, suggesting transmission defects. Color vision by Ishihara pseudochromatic plates and results of Farnsworth dichotomous (D-15) testing were normal for both eyes. The full-field electroretinogram recorded under both photopic and scotopic conditions was normal for both eyes. The proband's mother (Fig. 2) and two siblings (III-2 and III-3) were affected, but the configuration of the flecks differed (Fig. 3). Some of the siblings of the mother (II-1 and II-6) were also affected (pedigree chart; Fig. 4). It is interesting that the child (IV-1) born out of a second-degree consanguineous marriage between two affected parents (III-1 and III-2) at 6 months of age had a normal fundus but when reexamined at 18 months of age had the typical fundus picture described, although the flecks were much smaller and fewer in number. The proband's mother had a slightly different pattern, with much smaller central flecks and the more peripheral lesions assuming the typical large flecks described. However, none of the family members examined had a history of any ocular complaints and had no ocular or syst...

Benign panretinal uniform radial linear‐shaped flecks

“…In contrast to previous reports, 1–3 the retinal lesions in our patient appeared to be significantly smaller, more of a linear shape(s) and uniform in size(s). These lesions were distributed ubiquitously in the equator and mid and far periphery of the fundus.…”

“…Our case illustrates a new presentation of benign retina flecks with line‐shaped and panretinal, uniform and radial distribution. Compared with previous reports of fleck retina disorders, our case does not show increased autofluorescence deposits, no delay in dark adaptation, neither significant macular nor nasal disc involvement 1–5 …”

“…2 Bell's palsy is also thought to have a viral cause in many cases, with increasing evidence for a role of herpes simplex virus in pathogenesis. 3 A review of the literature reveals three other reports of ARN following Ramsay-Hunt syndrome. One HIV-positive patient developed bilateral sequential ARN with the first eye being involved at the same time as the onset of facial nerve palsy.…”

“…A prospective, randomized multicentre study of 221 patients found that valacyclovir and prednisolone therapy was more effective than conventional prednisolone therapy. 3 Antiviral treatment is recommended in all patients with herpes zoster, although there are no large-scale randomized control trials in Ramsay-Hunt syndrome. 5 This case presented here illustrates that there may be a risk of precipitating ARN when diagnosing and treating an acute lower motor neuron facial palsy with steroids, as the majority of cases are caused by herpes viruses.…”

“…Compared with previous reports of fleck retina disorders, our case does not show increased autofluorescence deposits, no delay in dark adaptation, neither significant macular nor nasal disc involvement. [1][2][3][4][5] A 51-year-old woman with consanguinous parents was referred for evaluation of bilateral retinal lesions. On examination, bestcorrected visual acuity was 6/7.5 with moderate hyperopic correc-tion in both eyes.…”