Evolution of Benign Concentric Annular MacularDystrophy
P. R. van den Biesen, M.D., A. F. Deutman, M.D., and A. J. L. G. Pinckers, M.D.
In 1974, Deutman described a family with anautosomal dominantly inherited macular dystrophythat he termed "benign concentric annular macular(bulls-eye) dystrophy." Ten years later, we per-formed a follow-up examination. Some patientscomplained of deterioration of visual acuity, nightvision, arid color vision. The macular dystrophy hadprogressed. The fundus periphery was more in-volved and in two patients there were bonecorpuscle-like pigmentations. Electrophysiologicexamination showed increased photoreceptor dys-function with equal involvement of the rod andcone system. The patients had an acquired type IIIblue-yellow color vision defect with pseudo-protanomaly.
IN 1974, DEUTMAN! described a family with a macu-lar dystrophy showing a depigmented ring aroundan intact central area. There was no history of chloro-quine ingestion and there were no symptoms typicalof cone dystrophy. The visual acuity was only mini-mally affected. Deutman termed this autosomaldominantly inherited macular disorder "benign con-centric annular macular (bull's-eye) dystrophy." Tenyears after the initial examination, we performed afollow-up examination of three of the originally de-scribed patients. In addition, three other familymembers are presented herein (Fig. 1). The dystro-phy seemed to have developed into a more diffusepigmentary retinopathy with functional characteris-tics of a cone-rod dystrophy.
Our study of the patients included routine evalua-tion, Goldmann kinetic perimetry, electroretinog-raphy, electro-oculography, fluorescein angiogra-phy, and elaborate color-vision testing (Tablej.P"
From the Department of Ophthalmology, University of Nijme-gen. The Netherlands.
Reprint requests to P. R. van den Biesen, M.D., Department ofOphthalmology, Radboudhospital, Philips van Leydenlaan 15,6500 HB Nijmegen, The Netherlands.
Case 1The 28-year-old proband (who had suffered bilater-
al retinal detachments before the first examination in1974, when she was presented as Case 1 by Deut-man') had noticed marked deterioration of visualacuity, night vision, and color vision.
Her visual acuity was R.E.: 20/60 with 5+2 C-2axis 180; and L.E.: 20/40 with 5+2.25 C-1.75 axis 20.There was a bull's-eye maculopathy, waxy opticatrophy, peripapillary atrophy, attenuated retinalarterioles, and peripheral bone-spicule pigmen-tation (Fig. 2). There were signs of detachmentsurgery with scleral resection. The fluorescein angio-gram of the macula showed pericentral hyperfluo-rescence that indicated dystrophy of the pigmentepithelium and choriocapillaris (Fig. 3). There was ageneralized contraction of the Goldmann visualfields with an incomplete ring scotoma and superiorconstriction. The electroretinogram in both eyes wasphotopically and scotopically unrecordable. Thelight-peak/dark-trough ratio was 1.00 in the right eyeand 1.00 in the left eye. The dark adaptation curvewas 1.5 log units elevated. Color vision showed anacquired type I red-green defect.
Case 2The brother of the proband (Case 2 in 1974) (age, 26
years) had no visual complaints.His visual acuity was R.E.: 20/15 uncorrected, and
L.E.: 20/15 uncorrected. There was a bull's-eye macu-lopathy, attenuated arterioles, peripapillary atro-phy, and some faint granular pigmentary distur-bance in the periphery (Fig. 4). Fluoresceinangiography of the macula showed a pericentraldystrophy of pigment epithelium (Fig. 5). The Gold-mann visual fields were slightly contracted. Theelectroretinogram disclosed a slightly decreasedcone and rod function without a prevalence of either.The light-peak/dark-trough ratio was normal; R.E.:2.00, and L.E.: 1.75. Dark adaptation was undis-turbed.
AMERICAN JOURNAL OF OPHTHALMOLOGY 100:73--78, JULY, 1985 73
AMERICAN JOURNAL OF OPHTHALMOLOGY July, 1985
Fig. 1 (Van den Biesen, Deutman, andPinckers). Family pedigree.
Case 3The mother of the proband (Case 3 in 1974) (age, 54
years) complained of decreased visual acuity, dis-turbed color vision, night blindness, and some pho-tophobia.
Her visual acuity was R.E.: 20/40 with 5+6.25C-0.5 x 80; and L.E.: 20/25 with 5+6.75 C-0.5 x135. The fundus showed a bull's-eye maculopathy,waxy optic atrophy, peripapillary atrophy, attenuat-ed arterioles, and granular pigment disturbance inthe periphery (Fig. 6). Fluorescein angiography ofthe macula demonstrated pericentral dystrophy ofpigment epithelium and choriocapillaris, in the righteye more than in the left eye (Figs. 7 and 8). TheGoldmann visual fields showed a deep generalizedcontraction and a relative central scotoma in the right
eye that was more pronounced than in the left eye.The electroretinogram showed unrecordable rodfunction and decreased cone function. The light-peak/dark-trough ratio was R.E.: 1.11, and L.E.:0.97. The dark-adaptation curve was 1 log unit ele-vated.
Case 4The grandmother of the proband (Case 4 in 1974)
did not undergo a second examination.
Case 5The 50-year-old aunt of the proband had com-
plained of some photophobia, disturbed color vision,and decreased night vision.
Her visual acuity was R.E.: 20/25 with 5+0.5
TABLESUMMARY OF CLINICAL DATA
EXAMINATION VISUAL OCULOG-
ACUITY DARKADAPTATION ELECTRORETINOGRAPHY RAPHYPATIENT AGE ELEVATION
NO. YEAR (YRS) R.E. L.E. COLOR VISION (LOG UNITS) SCOTOPIC PHOTOPIC R.E. L.E.
1974 18 20/60 20/25 Blue-yellow defect; diminished Subnormal Subnormal 1.00 1.00red sensitivity
1984 28 20/60 20/40 Red-green defect; diminished 1.5 Unrecordable Unrecordable 1.00 1.00red sensitivity
2 1974 16 20/20 20/20 Diminished red sensitivity Normal Normal Subnormal 2.14 2.361984 26 20115 20115 Norma! Subnormal Subnormal 2.00 1.75
3 1974 44 20/25 20/25 Blue-yellow defect; diminished 1.0 Subnormal Subnormal 1.87 1.91red sensitivity
1984 54 20/40 20/25 1.0 Unrecordable Subnormal 1.11 0.974 1971 70 20/20 20/25 Blue-yellow defect Normal Normal 1.74 1.655 1984 50 20/25 20/20 Blue-yellow defect; diminished 0.5 Subnormal Subnormal 1.12 1.00
6 1984 45 20/25 20/25 0.5 Subnormal Subnormal 1.50 1.707 1984 24 20/25 20/25 Diminished red sensitivity 0.5 Subnormal Subnormal 1.22 1.27
Vol. 100, No. 1 Annular Macular Dystrophy 75
Fig. 2 (Van den Biesen, Deutman, and Pinckers). Rightmacula of Patient 1. Visual acuity: 20/60 (red-free photo-graph).
C-0.25xI70; and L.E.: 20/20 with 5+0.25 C-0.5xI0.There was a bull's-eye maculopathy, waxy opticatrophy, peripapillary atrophy, attenuated arteri-oles, and bone-spicule pigmentation (Fig. 9). Thefluorescein angiogram of the macula showed peri-central pigment epithelial dystrophy. The Goldmannvisual fields demonstrated a generalized contraction,
Fig. 4 (Van den Biesen, Deutman, and Pinckers). Leftmacula of Patient 2. Visual acuity: 20/15 (red-free photo-graph) '.
Fig. 3 (Van den Biesen, Deutman, and Pinckers). Fluores-cein angiogram of right macula in Patient 1.
an enlarged blind spot, and superior construction.The electroretinogram showed a subnormal cone androd function. The light-peak/dark-trough ratio wasR.E.: 1.12, and L.E.; 1.00. The dark-adaptation curvewas 0.5 log unit elevated. Color-vision testing dis-closed an acquired type III blue-yellow defect withpseudoprotanomaly.
Fig. 5 (Van den Biesen, Deutman, and Pinckers). Fluores-cein angiogram of left macula of Patient 2 showing dystro-phy of pigment epithelium.
76 AMERICAN JOURNAL OF OPHTHALMOLOGY July, 1985
Fig. 6 (Van den Biesen, Deutman, and Pinckers). Rightmacula of Patient 3. Visual acuity: 20/40 (red-free photo-graph).
Case 6The 45-year-old aunt of the proband had noticed a
deterioration of color vision and decreased nightvision.
Her visual acuity was R.E.: 20/25 with 5+2.75C-0.5 x 30; and L.E.: 20/25 with 5+3.75 C-1.25 x175. The fundus showed a bull's-eye maculopathy,
Fig. 8 (Van den Biesen, Deutman, and Pinckers). Late-phase fluorescein angiogram of Patient 3.
Fig. 7 (Van den Biesen, Deutman, and Pinckers). Early-phase fluorescein angiogram of Patient 3 showing dystro-phy of retinal pigment epithelium and choriocapillaris.
normal optic disks, attenuated arterioles, and pe-ripheral granular pigment disturbance. Fluoresceinangiography demonstrated pericentral dystrophy ofthe pigment epithelium. The Goldmann visual fieldswere generally depressed. The electroretinogramshowed slightly decreased for both rod and conefunction. The light-peak/dark-trough ratio was R.E.:
Fig. 9 (Van den Biesen, Deutman, and Pinckers). Periph-ery in Patient 5 showing bone-spicule pigmentation.
Vol. 100, No.1 Annular Macular Dystrophy 77
1.50 and L.E.: 1.7. The dark-adaptation curve was 0.5log unit elevated.
Case 7The 24-year-old daughter of Patient 5 had com-
plaints of decreased night vision.Her visual acuity was R.E.: 20/25 with 5+2.75
C-1.5x60; and L.E.: 20/25 with 5+2.25 C-0.5x90.There were pericentral pigment alterations, waxyoptic atrophy, peripapillary atrophy, slight attenuat-ed arterioles, md some paravenous pigment clump-ing in the periphery. The fluorescein angiogramshowed a pericentral pigment epithelial dystrophy.The Goldmann visual fields disclosed deep general-ized contraction. The electroretinogram was subnor-mal for cone and rod function. The light-peak/dark-trough ratio was R.E.: 1.22 and L.E.: 1.27. Thedark-adaptation curve was 0.5 log unit elevated.Color-vision testing showed pseudoprotanomaly.
This family showed a benign retinal dystrophywith what is probably an autosomal-dominant inher-itance pattern. Inheritance from father to son couldnot be de