PERIPAPILLARY PIGMENTARY RETINAL DEGENERATION

K E N N E T H G. N O B L E , M.D., AND RONALD E. CARR, M.D. New York, New York

The posterior pole of the retina is in­volved in a number of degenerative and inflammatory conditions. If the macula is spared and vision remains normal, these diseases may be asymptomatic and escape detection.

Over the past several years, we have studied four asymptomatic patients who demonstrated widespread peripapillary degeneration.

This disorder is characterized by a bi­lateral, usually symmetrical transparen­cy of the pigment epithelium associated with bone spicule pigment clumping in a peripapillary distribution with extension nasal to the disk and temporally in an arcuate fashion.

Follow-up examination in three cases revealed no progression of the pigmen­tary changes, and this localized pigmen­tary dystrophy appears to have a benign process.

M E T H O D S

All patients underwent ophthalmolog-ical examination including perimetry, fluorescein angiography, retinal profiles, electroretinography, and electro-oculo-graphy. The procedures followed for such testing have been outlined in previous reports.1,2

From the Department of Ophthalmology, New York University Medical Center, New York, New York. This work was supported in part by grant EY00213 from the National Eye Institute, National Institutes of Health.

Reprint requests to Kenneth G. Noble, M.D., Department of Ophthalmology, New York Universi­ty School of Medicine, 550 First Ave., New York, NY 10016.

R E S U L T S

All patients were in excellent general health; they were referred to us because of fundus changes and none of them had complaints. After we questioned them more carefully, three acknowledged some difficulty with side vision and night vi­sion, but this did not interfere with their life styles. Visual acuity was 6/6 (20/20) in both eyes for Cases 3 and 4; 6/7.5 (20/25) in both eyes for Case 1; and R.E.: 6/6 (20/20), L.E.: 6/7.5 (20/25) for Case 2 (Table). The scotoma corresponded well to the ophthalmoscopic and fluorescein angiographic areas of disease.

The final retinal threshold sensitivities were measured after 30 minutes of dark adaptation at various loci, ranging from the fovea to 30 degrees nasal, and 30 degrees temporal retina. The threshold sensitivity was elevated in the ophthal-moscopically affected retina and was normal in normal appearing retina.

In all cases, electroretinograms re­vealed only a slight reduction of the scotopic b-wave amplitude, which corre­sponded with the amount of retina dam­aged. The photopic response was normal. Photopic and scotopic latencies were also normal.

The electro-oculographic light rise was normal in the patient who had the most extensive involvement (Case 1).

The major ophthalmoscopic finding was a metallic, grayish sheen radiating from the disk along the inferior and su­perior vessels to a variable extent (Figs. 1 and 2). In both eyes in Case 1 and the left eyes in Cases 2 and 3, the inferior and superior extensions joined temporal to the

AMERICAN JOURNAL OF OPHTHALMOLOGY 86:65-75, 1978 65

66 AMERICAN JOURNAL OF OPHTHALMOLOGY JULY, 1978

TABLE FINDINGS IN PATIENTS WITH PERIPAPILLARY PIGMENTARY RETINOPATHY

Case No.

1

2

3

4

Age Race, Sex

45 W, M

50 W, M

31 W, M

39 B, F

Presenting Symptom

None

None

None

None

; Vision

Both eves: 6/7.5 (20/25+)

R.E.: 6/6 (20/20) L.E.: 6/7.5 (20/25;

Both eves: 6/6 (20/20)

Both eves: 6/6 (20/20)

Retinal Profiles

L.E.: elevated superiorly, nasally, and temporally from 3 to'25 degrees, normal at 30 degrees

R.E.: elevated temporally

) and nasally from 10 to 20 degrees

R.E.: elevated from 10 to 30 degrees temporally

R.E.: elevated 20 to 30 degrees nasally and temporally

Visual Field (Goldmann Perimetei

lU mm 2 White)

Bilateral ring s eotomata-nasal 1 y 3 to 25 degrees, temporally 5 to 40 degrees

1.

Inconsistent responses

R.E.: Inferior and su­perior arcuate scotoma L.E.: Ring scotoma with 5 degree central vision

ERG ■ (Scoptopic

B-vvave)

Slight reduction (EOG) 250% both eyes

Slight reduction

Normal

Slight reduction

Ophthalmoscopic : Findings

Bilateral symmetrical annular ring with a tapetal reflex sur­rounding the central retina. Bone spicule pigmentation present but mild

R.E.: Peripapillary .sheen extending along infero-tem-poral vessels. L.E.: Annular ring of tapetal reflex with heavy pigment proliferation nasal to disk

R.E.: Peripapillary sheen ana trans­parency extending along inferior and superior temporal vessel arcades L.E.: Perimacula annular ring of pigmentary sheen

R.E.: Peripapillary sheen with projec­tions into all quadrants L.E.: Peripapillary sheen with small superior extension

Follow-up (yrs)

1

1

_

2

macula forming an annulus. Interspersed within the affected retina were bone spic­ule pigment clumping and areas of pig­ment epithelial transparency. Although the margins were not sharply delineated, the border where diseased retina ended and normal peripheral retina began was apparent. In all cases the retinal vessels, optic disk, macula, and periphery ap­peared normal.

The retinal involvement was bilateral and either symmetric (Cases 1 and 3), or only moderately asymmetric (Cases 2 and 4) in its appearance.

The major finding on fluorescein angi-ography was a hyperfluorescence of dye caused by a pigmentary transmission de­fect (Figs. 3-9). The area of hyperflu­orescence corresponded identically to the areas of pigmentary change and was a better indicator of the exact borders of the lesions. The pigment accumulation re­sulted in the expected hypofluorescence. More peripheral areas were normal. A ring of perifoveal atrophy in Case 1 showed hyperfluorescence.

There was no history indicative of he­reditary ocular disease (such as consan-

■■.„#> t.M-

Fig. 1 (Noble and Carr). Case 1. The posterior pole of the right eye shows the symmet­rical distribution of a pigmentary tapetal reflex extending from the disk along the in­ferior and superior vessel arcades and joining temporal to the macula. Occasional bone spicule pigmentation may be seen in the affected retina. The optic disk and retinal ves­sels are normal.

Fig. 2 (Noble and Carr). Case 2. The left eye has an annular distribution of the pigmen­tary sheen reflex with a heavy accumulation of pigment nasal to the disk.

VOL. 86, NO. 1 PERIPAPILLARY PIGMENTARY RETINAL DEGENERATION 69

Fig. 3 (Noble and Carr). Case 1. Fluorescein angiography in the right eye shows hyperfluorescence in the affected retinal tissue.

guinity or similarly affected relatives), although only the sister of one patient (Case 1) was examined.

We saw two patients (Cases 1 and 2) after one year, and one (Case 4) after a two-year interval. In no instance was there evidence of progression of the le­sions or a decrease in visual acuity. One patient (Case 3) was lost to follow-up.

DISCUSSION

Peripapillary or pericentral pigmentary retinopathy is an asymptomatic disorder that appears to have a benign prognosis.

The primary disease process involves the retinal pigment epithelium-photo-receptor complex in a peripapillary dis­tribution with extension nasal to the disk and temporally in an arcuate distri­bution. This is a localized or geographic

degeneration as evidenced by visual field scotoma corresponding to the distribution of the retinal lesion; decreased retinal sensitivity in abnormal retina and normal sensitivity in ophthalmoscopically unaf­fected areas; slight reduction in the elec-troretinogram with normal latencies; nor­mal electro-oculographic light rise; and pigment transmission defect with hyper­fluorescence in affected retina and normal fluorescence in adjacent retina.

All the referring physicians in our study wished to rule out the diagnosis of a generalized tapetoretinal degeneration, presumably because of the bone spicule formation and the pigmentary tapetal sheen. Additionally, three patients admit­ted to some difficulty with peripheral and night vision. But the normal caliber of arterioles even in the involved retina, the

70 AMERICAN JOURNAL OF OPHTHALMOLOGY JULY, 1978

^ ». J

Fig. 4 (Noble and Carr). Case 1. Hyperfluorescence in the affected retinal tissue of the left eye. A perifoveal ring of hyperfluorescence indicates pigment disturbances in this area.

normal retinal sensitivity in uninvolved retina, the essentially normal electroreti-nogram with normal latencies, and the normal electro-oculographic light rise are all inconsistent with tapetoretinal dystro­phy.

The terms sector retinitis pigmentosa, central retinitis pigmentosa, and pericen-tral retinitis pigmentosa have been used to describe disorders that are segmental in nature, but in which the affected reti­nal area resembles retinitis pigmentosa. Duke-Elder3 defined central pigmentary dystrophy as a pigmentary disturbance

[which] takes the form of an island round the macula," whereas pericentral pigmen­tary dystrophy shows a " . . . picture be­tween the true central and classical equa­torial lesions, wherein a pigmented zone occurs immediately around the macula, often leaving good central vision." These entities have been reported in families; sector retinitis pigmentosa is usually in­herited as an autosomal dominant disor­der4 and central and pericentral retinitis pigmentosa as autosomal recessive disor­ders.5

Sector retinitis pigmentosa (usually in-

Fig. 5 (Noble and Carr). Case 2. Fluorescein angiography of the right eye shows hyperfluorescence in the ophthalmoscopically affected areas. Peripheral areas of retina show a normal fluorescein pattern.

Fig. 6 (Noble and Carr). affected area of the left eye.

Case 2. Hyperfluorescence in the ophthalmoscopically

72 AMERICAN JOURNAL O F OPHTHALMOLOGY JULY, 1978

Fig. 7 (Noble and Carr). Case 3. Fluorescein angiogram of left eye shows an annular ring of hyper-fluorescence surrounding a normal macula.

Fig. 8 (Noble and Carr). Case 4. Fluorescein angiograms show the nasal extension in the right eye, as well as along the temporal vessels.

VOL. 86, NO. 1 PERIPAPILLARY PIGMENTARY RETINAL DEGENERATION 73

Fig. 9 (Noble and Carr). Case 4. The left eye has only a small superi­or extension from the disk.

volving an inferior retinal quadrant), cen­tral retinitis pigmentosa (involving the macula), and our cases of peripapillary pigmentary retinal degeneration may all represent a similar pathologic process, but each has a different geographic presenta­tion. These three disorders all share the same characteristics: localized pigmen­tary changes, including bone spicule for­mation; minimal progression into normal retina; angiographic evidence of a pig­mentary transmission defect with hyper-fluorescence and without choriocapillaris atrophy; and visual function tests that reflect a local process and not a genera­lized dysfunction.

The generalized tapetoretinal degen­eration known as retinitis pigmentosa always reveals a diffuse dysfunction of the photoreceptors. The ophthalmoscopic picture may mimic a localized disorder since pigmentary changes may be con­fined to the central retina, the peripapil­lary region, or a particular segment of the retina. However, electrophysiologic and psychophysical tests indicate widespread dysfunction of the photoreceptors.

Peripapillary pigmentary retinopathy

must also be differentiated from peripa­pillary choroidal sclerosis, a disease af­fecting the same region. The term peri­papillary choroidal sclerosis includes a variety of disorders such as helicoid de­generation,6 serpiginous choroidopathy,7

geographic choroidopathy,8-10 and circi-nate choroidal sclerosis.11 Maumenee10

suggested that these disorders may cover a wide spectrum of diseases ranging from choroidal inflammation to choroidal vas­cular abiotrophy. Common to all the dis­orders within this framework is atrophy of the choriocapillaris.

Whereas ophthalmoscopic pictures of pigmentary and choriocapillaris dys­trophy may look similar, especially in the early stages of the disease, fluorescein angiography differentiates them.12 Pri­mary choriocapillaris pathology will show an absence of the choriocapillaris flush, and the larger choroidal vessels will be visible (Fig. 10). In disease confined to the pigment epithelium, the choroidal vessels may be easily seen initially in the choroidal phase, (Fig. 11, left) but by the arterial or early venous phase, the normal choriocapillaris flush is seen as hyperflu-

74 AMERICAN JOURNAL OF OPHTHALMOLOGY JULY, 1978

Fig. 10 (Noble and Carr). Fluo-rescein angiogram shows peripapil-lary atrophy of the choriocapillaris and the large choroidal vessels are visible.

orescence (Fig. 11, right). In none of these four cases was there evidence on fluores-cein angiography of choriocapillaris atro­phy.

Finally, pigmented paravenous chorio-retinal degeneration 6 can have a similar

appearance. The ophthalmoscopic hall­mark of this disease is a paravenous accumulation of pigment that may be associated with chorioretinal atrophy. Al­though most of the changes in our pa­tients followed the temporal vessel ar-

Fig. 11 (Noble and Carr). Case 3. Left, In the choroidal phase the large choroidal vessels are easily seer through the pigment transmission defect. Right, By the late arterial phase the choriocapillaris vessels have filled and leaked fluorescein, obscuring the larger choroidal vessels.

VOL. 86, NO. 1 PERIPAPILLARY PIGMENTARY RETINAL DEGENERATION 75

cades, there were many involved areas unrelated to the distribution of the retinal vasculature.

SUMMARY

We studied four patients with peri­papillary pigmentary retinal degenera­tion, an asymptomatic disorder that was probably benign and nonprogressive.

The ophthalmoscopic appearance showed a segmental, grayish metallic sheen in association with bone spicule pigmentation, which radiated from the disk along the temporal vessel arcades and joined temporal to the macula. The optic disk, retinal vessels, periphery, and macula were normal in all patients. Visual function tests and fluorescein angiogra-phy indicated a segmental disease of the retinal pigment epithelium-photoreceptor complex.

REFERENCES 1. Carr, R. E., Ripps, H., Siegel, I. M., and Weale,

R. A.: Rhodopsin and the electrical activity of the

retina in congenital nightblindness. Invest. Oph­thalmol. 5:497, 1966.

2. Carr, R. E., Gouras, P., and Gunkel, R. D.: Chloroquine retinopathv. Arch. Ophthalmol. 75: 171, 1966.

3. Duke-Elder, S., and Dobree, J. H.: Diseases of the Retina. In Duke-Elder, S.: System of Ophthal­mology, vol. 10. St. Louis, C. V. Mosby, 1967, p . 591.

4. Carr, R. E.: Primary retinal degenerations. In Duane, T. D. (ed): Clinical Ophthalmology, vol. 3. Hagerstown, Maryland, Harper and Row, 1976, p . 6.

5. Franceschetti, A., Frangois, J., and Babel, J.: Chorioretinal Heredodegenerations. Springfield, Il­linois, Charles C Thomas, 1974, p . 285.

6. Franceschetti, A.: A curious affection of the fundus oculi. Helicoid peripapillary chorioretinal degeneration. Doc. Ophthalmol. 16:81, 1962.

7. Gass, J. D. M.: Stereoscopic Atlas of Macular Disease. A Funduscopic and Angiographic Presen­tation. St. Louis, C. V. Mosby, 1970, p . 66.

8. Schatz, H., Maumenee, A. E., and Patz, A.: Geographic helicoid peripapillary choriodopathy. Clinical presentation and fluorescein angiographic findings. Trans. Am. Acad. Ophthalmol. Otolaryn-gol. 78:747, 1974.

9. Hamilton, A. M., and Bird, A. C : Geographical choroidopathy. Br. J. Ophthalmol. 58:784, 1974.

10. Maumenee, A. E.: Clinical entities in "uveitis." An approach to the study of intraocular inflamma­tion. Am. J. Ophthalmol. 69:1, 1970.

11. Shocket, S. S., and Ballin, N.: Circinate chor-oidal sclerosis. Trans. Am. Acad. Ophthalmol. Oto-laryngol. 74:527, 1970.

12. Noble, K. G., Carr, R. E., and Siegel, I. M.: Fluorescein angiography of the hereditary choroi-dal dystrophies. Br. J. Ophthalmol. 61:43, 1977.