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British Jou-rnal of Ophtlhalmology, 1980, 64, 652-659

Benign familial fleck retinaSURA F. SABEL AISH AND BASEM DAJANIFroni thle JortIali UniversitHy Hospital

SUMMARY A family with a benign form of fleck retina is describAd. Seven out of 10 siblings wereaffected. The consanguinious parents were both normal. The fundi were massively invaded bylesions which appeared as discrete, bright white or yellow flecks situated well behind the retinalblood vessels. The macula was always free. Fluorescein studies revealed a healthy macula andretinal and choroidal blood vessels. The relationship of this benign form to the other forms offleck retina is discussed.

Massive mosaic hyaline excrescences along thecuticular layer of Bruch's membrane, leading to theappearance of multiple deep yellow to yellowishwhite lesions of variable size and shape in the fundihave been well known for more than a century.1-3Many forms of this condition have been describedwith different findings, prognosis, and inheri-tance.4-15

Krill6 17 regarded all these conditions as fleckretina diseases. He then classified them into 4groups: fundus albipunctatus, fundus flavimaculatus,familial drusens, and fleck retina of Kandori. Thisclassification with subgrouping according to theseverity of the condition seemed to bring order intothe confusion that had lasted for a century.

In this paper we present a family with fleckedretina, with typical fundoscopy picture and normalvisual findings. We suggest they belong to a fifthgroup benign familial fleck retina.

Patients and methods

This was an Arab Palestinian family residing inAmman-Jordan. There were 10 children. Theparents are first cousins. All 12 members of thefamily were studied. The parents had normal visionand fundi. Seven out of 10 children had fleckedretina (Fig. 1). The affected children had undergonethe following ophthalmic investigations: Refractiontests and assessment of visual acuities, dark adap-tometry, central and peripheral visual fields, fundo-scopy along with white light photography, andfluorescein angiography. Examination of thepatients included a full blood picture; blood

Correspondence to Dr S. F. Sabel Aish, Jordan UniversityHospital, PO Box 13046, Amman-Jordan.

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sugar, cholesterol; protein electrophoresis; and skullx-rays.

CASE lThe propositus was a 16-year-old girl who presentedin 1977 with headaches. She gave no history ofophthalmic or systemic disease.On examination her visual acuities were 6/18

corrected to 6/6 with -1 00 DS in either eye. Theanterior segments of both eyes were normal, andthe intraocular pressures were within normallimits. Central and peripheral visual fields did notshow any abnormalities, and dark adaptometrywas normal. Fundoscopy showed that in both eyes

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Benign .frmilial.fleck retinla

Fig. 2 Above: White lightphotograph demonstrating fleckretinal dystrophy in case I(the propositus). Central areasar-e spar-ed. Below: Fluorescei,iangiography oJ the samiie eye.Notice that the macala is theonlylj nonhYperfluorescent area.

the fundi were invaded by an enormous number ofbright white and sometimes yellowish white flecksof variable size and configuration, arranged in aconcentric pattern around the posterior fundus andsparing the optic disc, macula, papillomacular areaas well as 1-2 disc diameters circular region sur-rounding the disc and macula. They spread every-where in the equator and mid and extreme peripheryof fundus. The more centrally located flecks ap-peared sparse, small, round, and dot-like. Othersof larger size in the equatorial and peripheral areasvaried in shape, being, round, elongate, pisciform,star-shaped, and sometimes circular. The fleckswere always discrete, well defined, with almostsinuous margins and a flat or prominent surface.They appeared to be solid and well behind the

retinal vascular tree. Throughout the fundus theyshowed the same mosaic appearance. They sparedno area in the periphery. No pigmentary distur-bances, calcification or conglomeration was obser-ved, nor were choroidal vessels observed.

Follow-up 1 year later gave the same fundoscopyfindings, with 6/6 corrected visual acuity in eithereye. Headaches had disappeared, visual fields wereagain normal, and there was no delay in darkadaptation.

Fluorescein angiography carried out at this timeshowed that apart from the macula the wholefundus was hyperfluorescent, including the centralareas which appeared free of flecks on fundoscopyand white light photography. This indicated therewas no close correlation between the site of the

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Siara F. Sabel Aish aiid Basem Dajani

Fig. 3 Above: Plain funduscomposite photograph illustratingthe distribution offlecks in case2. The flecks involve morecentral areas than those in case1. Below: Fluorescein angio-graphy to the same eve.

flecks and the hyperfluorescent areas, particularlyin the central part of the fundus (Fig. 2).

CASE 2The eldest sister of the propositus was 18 years old.She gave no history of systemic or ophthalmictrouble.

Visual acuity in both eyes was 6/6. Her visualfields and dark adaptometry were normal. Thefundi were extensively invaded by flecks like thoseseen in case 1. The disc, macula, and paramaculararea bordered by the upper and lower temporalretinal vascular branches were the only areas thatwere spared (Fig. 3). Small, round, dot-like fleckswere distributed nasally above and below the disc,while the equatorial and midperipheral areas of the

fundi were invaded by much larger fleck lesionswith irregular configurations, mainly longitudinalin shape. The most peripheral parts of the funduswere invaded mainly by linear flecks. The results offluorescein angiography were comparable to thoseseen in the propositus. The only nonfluorescent areawas the macula (Fig. 3).

CASE 3A 14-year-old boy, brother of the propositus. Hiscorrected visual acuities were 6/6. His visual fieldswere normal, and he did not show any defect indark adaptation. The fundi were very extensivelyinvaded by fleck lesions, comparable in shape andsize to those in the propositus. But in this case, apartfrom the disc and macula, no other areas were

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Benign familial fleck retina

Fig. 4 Left: White light fundus composite photograph of the left eye ofcase 3. Right: Fluorescein angiographyof the same eye.

spared (Fig. 4). As in the previous cases, fluoresceinangiography showed hyperfluorescence of the wholefundi apart from the macula itself, with a normalvascular tree (Fig. 4).

CASE 4A 12-year-old boy, brother of the propositus. Thischild was also healthy, with 6/6 visual acuities andnormal visual fields and dark adaptometry. Bothhis eye grounds were affected with fleck lesionscomparable in shape, size, and distribution to thosein the propositus, as seen by fur1doscopy, fundusphotography, and fluorescein angiography (Fig. 5).

CASE 5A 6-year-old brother of the propositus. He had 6/6uncorrected visual acuities with normal visual fieldsand dark adaptometry. Only the mid and extremeperiphery of the eye grounds were invaded bysmall, dot-like, round fleck lesions. Some appearedto be of the same shape as those found in the pre-

vious cases but never of the same size. The disc,macula, and retinal as well as choroidal bloodvessels were normal. Fluorescein angiographyrevealed a rather uniform hyperfluorescent fundusapart from the fleck-free macular area (Fig. 6).

CASE 6A 4-year-old boy, brother of the propositus. As inthe previous cases he had 6/6 vision in both eyes,and examination of the anterior segments of botheyes showed nothing abnormal. Fundoscopy ofboth eyes revealed symmetrical involvement, withfine fleck lesions scattered everywhere beyond thecentral fundus. The flecks appeared immature incomparison with those seen in the older sisters andbrothers. Discrete and sparse along the centralborder of the involved areas, they were mainlyround in shape. Fluorescein angiography revealedhyperfluorescent fundi except for the macula itself.The retinal and choroidal blood vessels werenormal (Fig. 7).

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Fig. 5 Above: White lightfundus photograplky. Below:Fluorescein angiography to lefteye of case 4. Here the patternand distribution offlecks arerather similar to those of thepropositus.

CASE 7A 2-year-old boy, brother of the propositus.Fundoscopy showed the same appearance as incase 6, except that the fleck lesions appeared smaller,fainter, and sparser; they were situated mainly inthe peripheral fundus (Fig. 8). Fluorescein angio-graphy could not be undertaken. The child appearedemmetropic, with normal day and night vision.

Discussion

The 7 cases presented here are characterised bymultiple whitish or yellowish white fleck-likedeposits deeply situated in the retina well behindthe retinal vascular tree. They varied in size andconfiguration, being round, pisciform, star-shaped,

and linear. No vascular changes in either retinaor choroid and no abnormalities in the centralfundus were observed. Nor could pigmentary dis-turbances or secondary calcifications be seenamong the fleck-like lesions. Apart from somedifferences in size and shape of the flecks and slightvariations in the pattern of their distribution in thejuxtapapillary area, these 7 cases seem to constitutea uniform fleck retina dystrophy.

Clinically there was no night blindness or anydelay in dark adaptation. The fundal lesions in theyounger patients were clearly immature whenjudged by their size, density, concentration, andshape in comparison with those of the older patients.However, the findings at fluorescein angiographydid not differ with age of patient. These observa-

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Fig. 6 Above: White lightphotography. Below: Fluoresceinangiography. Left eye, case 5.Notice the fine immature fleckswhich are studded in theparacentral andperipheral area.

Fig. 7 Left: White lightfundus photograph of left eye incase 6, showing the smallfineflecks dystrophy extendingbeyond the central areas.Right: Fluorescein angiographyof same eye.

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Sura F. Sabel Aish and Basem Dajani

tions, together with the fact that there was hyper-fluorescence of the fleck-free area as seen withfundoscopy and white light photography, suggestthat involvement of Bruch's membrane antedatesthe appearance of the flecks.

Fig. 8 Fundus white light photograph showing some

discrete, fine, dot-like flecks scattered in theperipheral fundus of left eye in case 7.

The main features of the different types of fleckedretina disorders reported in the literature are sum-marised in Table 1. We consider the family reportedhere to be a separate entity, benign familial fleckretina. In contrast to all previously reported casesof fleck retina disorders our cases showed nodisturbance of visual functions attributable to thedisorder during a 3-years follow-up. It is obviousthat our family cannot be considered as familialdrusen or fundus flavimaculatus. The macularinvolvement, calcifications, choroidal involvement,and visual function disturbances reported in theseconditions are different from what was seen in ourfamily.The distribution of the flecks in our cases may be

similar to that of fundus albipunctatus, but theirshape is different. In addition, the fact that none ofour cases had any disturbance of visual functionputs them in a separate entity. When compared tocases of the fleck retina of Kandori our cases showmore extensive involvement of the fundus, withflecks of different shape and size that show noconglomeration.We suggest that benign familial fleck retina is

inherited as an autosomal recessive condition. This is

Table 1 Classification offleck retina disorders

Fleck retina disease Changes in fundi Functional disturbances Mode of inheritance

Fundus albipunctatus4 6 1S 20 Discrete uniform white dots. Night blindness. Dark Autosomal recessiveDistribution: over the whole adaptation: normal, slow or Autosomal dominant23fundus greatest density at monofunctional (only conemidperiphery. No macular threshold)involvement. No pigmentarydisturbances or secondarycalcification

Fundus flavimaculatus9 11 18 Round, linear, or pisciform Central visual loss, colour Autosomal recessive12 14 24 25lesions. Distribution: limited vision loss, photophobia,to the posterior pole, or paracentral scotoma, slow darkextends to the equator. Macula adaptationis involved. Network atrophyof retinal pigment epithelium.Choroidal vascular atrophy

Familial drusen" 22 Round or oval lesions in almost Loss of vision during Autosomal dominant's 22 26-2Bgrape-like clusters. Distribution: progressive stages, centralconcentrated in the posterior scotoma slow darkpolar region. Pigmentary adaptationdisturbances and secondarycalcifications. Macula is almostalways involved, may appearoedematous or haemorrhagic

Fleck retina of Kandori' 30 Irregular flecks with great Some night blindness. Initially Autosomal recessivevariability in size. Distribution: delayed dark adaptation,in the equatorial or between the recovers to normal value afterequatorial and macular region 30-40 minutes in the darkwith tendency for confluence.No macular lesions. Disturbanceof pigment epithelium

Benign familial fleck retina Round, linear, or pisciform. No disturbance of visual Autosomal recessiveDistribution: in the whole function (no symptoms)fundus except the disc andmacula. No macular lesions.No tendency for confluence.No pigmentary disturbances

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supported by the fact that both sexes were involvedand that both parents were free of the disease.

References

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