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Associated ocular findings in pericentral pigmentary retinopathy Yusuf K. DurluI, Engin Burumcek', Kazim Devranoglu2, A. Baki Mudun', Serra Karacorlu' and M. Okan Arslan'

Eye Clinic', SSK Okmeydani Hospital and Department of Ophthalmology*, University of Istanbul, Cerrahpasa Medical School, Istanbul, Turkey

ABSTRACT. Macular complications occurred in two isolated patients who had pericentral pigmentary retinopathy. One patient demonstrated bilateral bull's- eye maculopathy and a unilateral full-thickness macular hole. Later, she de- veloped central retinal artery occlusion in the fellow eye. The second patient had a rhegmatogenous retinal detachment that was reattached by scleral buckling surgery, but a full-thickness macular hole was found 3 months postoperatively. In both patients, foveal ischemia may have played a role for the development of ma- cular hole, resulting in poor visual prognosis in pericentral pigmentary retino- pathy.

Key words: pericentral pigmentary retinopathy - macular hole.

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ericentral pigmentary retinopathy P (also known as peripapillary pigmen- tary retinal degeneration (Noble & Carr 1978) or pericentral retinal dystrophy (Gr~ndahl 1987)) is a rare, localized cho- rioretinal disorder (Traboulsi et al. 1988). Examination of the fundus typically shows annular chorioretinal atrophy with bone spicule pigmentation that also in- volves the peripapillary region (Gr~ndahl 1987;Gass 1987).Thetrait may beeither autosomal recessive (Traboulsi et al. 1988) or dominant (Gr~ndahl 1987). In some cases, however, no positive family history can be found (Noble & Carr 1978; Gass 1987).

The primary site of the defect in pericentral pigmentary retinopathy is un- known. Night blindness, which occurs in virtually all cases, implicates photorecep- tor degeneration (Traboulsi et al. 1988). Cone dysfunction has been shown by de- creased visual acuity (Gr~ndahl 1987; Gass 1987; Noble 1989) and color vision defect (Gass 1987; Noble 1989; Jimenez- Sierra et al. 1989). Involvement of the re- tinal pigment epithelum ( W E ) (Tra- boulsi et al. 1988) and choroid (Noble & Carr 1978) has been described in pa- tients with pericentral pigmentary retino- pathy. Here we report 2 patients with

pericentral pigmentary retinopathy who had macular complications. To our knowledge, this association has not pre- viously been reported in the ophthalmic literature.

Case Reports Case 1 A 63-year-old woman who came to the outpatient section of our clinic had a his- tory of light flashes and decreased visual acuity in her left eye for 10 days. She also complained of difficulties for the past 3 years with night vision and color vision. For 13 years she had had hypertension, which had been controlled with anti- hypertensive drugs (reserpine, dihydro- ergocristine, and clopamide). She denied use of chloroquine or its derivatives. Family history was negative for remark- able eye disease or the presence of paren- tal consanguinity. Results of Treponema pallidum hemagglutination test, VDRL, and anti-toxoplasma IgG/IgM titers were negative.

An eye examination showed her visual acuity as RE: 16/20 and LE: 20/200. Results of a slit-lamp examination were normal. Intraocular pressures were RE:

18 mmHg and LE: 15 mmHg. Gonios- copy showed open anterior chamber angles with normal anatomic structures. Bilateral peripapillary and pericentral re- tinochoroidal atrophy with sheen tape- toretinal reflex and bone spicule pigmen- tation that spared the peripheral retina were observed. Both eyes also showed perifoveal atrophy. A macular hole (stage 3 (Gass 1988)) was noted in her left eye (Fig. 1).The cup-to-disc ratio was 0.6 bi- laterally. Hypertensive retinopathy (stage 2, according to the Keith-Wagener classi- fication (Keith et al. 1939)) was also found. Fluorescein angiography demon- strated sharply demarcated bi-annular atrophy in the peripapillary, pericentral, and perifoveolar retinochoroid in both eyes, and a full-thickness macular hole in her left eye (Fig. 2). Photopic electroreti- nographic recordings were normal for both eyes (Fig. 3).The electro-oculogram (EOG) was abnormal bilaterally (Arden (light peak/dark trough) ratios: RE: 1.3 and LE: 1.4, respectively). Automated perimetry revealed ring scotoma in both eyes. The patient had a bilateral mild

Fig. 1. Case 1: Left eye exhibits the co-exist- ence of bull's-eye macubpathy and macular hole in pericentral pigmentary retinopathy. A sharp transition between normal and affected regions of the retina are evident at the poste- rior pole.

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Fig. 2. Case 1: Left and right. fluorescein angiograms of the right and left eyes demonstrate peri- papillary and pericentral retinochoroidal atrophy with bull’s-eye maculopathy in both eyes and a pigment epithelial window defect corresponding to the full-thickness macular hole in the left eye.

Fig. 4. Case 1: Fluorescein angiogram of the right eye reveals delay in retinal arterial filling. Retrograde flow at the upper hemispheric reti- nal vein is apparent.

color vision defect, as determined by the Ishihara test. Follow-up examinations performed every 3 months revealed no change in her visual status for 18 months, until she developed acute loss of vision in her right eye. Visual acuity in her right eye was 10/400. Fundus examination showed evidence of central retinal artery occlusion in that eye. Fluorescein angio- graphy disclosed a delay in retinal arterial filling of the right eye (Fig. 4). Intermittent ocular massage to the right eye was done in association with the intravenous ad- ministration of mannitol (1 mg/kg body weight) and acetazolamide (500 mg). Vis- ual acuity in the right eye recovered to 20/40 after 1 month. Consultation with a

Case 1 R . E . <\- L . E . d\-

J Fig. 3 . 1\11 clccli-orctitio~iaiiii (pholopic) i n both eyes of each patient. Patient 1 shows nor- mal b-wave amplitude and latency in both eyes. In Patient 2, the b-wave amplitudes are noted as markedly subnormal (45 vV) in the right eye and normal in the left eye. Latencies are prolonged (46 msec) in both eyes in Pa- tient 2. Normal photopic values arc a b-wave amplitude of 186 k 35 pV (mean k SD) with a latency of 39.1 k 2.1 msec. The vertical and horizontal calibration lines designate 100 pV and 10 msec, respectively. A single white bright-flash stimulus occurred at the begin- ning of the tracing.

cardiologist revealed second-degree at- rioventricular block.

Case 2 A 58-year-old woman with acute vision loss in her right eye had experienced diffi- culty with night vision since childhood. There was no known parental consan- guinity. No family members experienced difficulty with night vision. Her 37-year- old daughter, however, was examined by us and was found to have primary open angle glaucoma. Fundus examination of her daughter revealed n o degenerative changes of the retina.

An eye examination showed the pa- tient’s visual acuity as RE: 20/200 and LE: 20/20. Slit-lamp examination re- vealed nuclear sclerosis in her right eye. Positive Shaffer’s sign and fibrillary de- generation also were found in the ante- rior vitreous bilaterally. Intraocular pres- sures were RE: 7 mmHg and LE: 14 mmHg. Three-mirror examination of her right eye revealed posterior vitreous de- tachment and rctinal detachment affect- ing the nasal region. The macular area was not involved. She had a U-shaped tear superonasally with peripapillary and pericentral bone spicule pigmentation. In her lcft eye, a retinal tear was found inferonasally. Peripapillary/pericentral pigment clumping with retinochoroidal atrophy and peripheral microcystic de- generation also was seen. Laser prophy- lactic treatment was performed for the in- feronasal retinal tear in her left eye, and the patient was hospitalized. Scleral buckling with use of a 4-mm sponge, mild scleral cauterization, and drainage of subretinal fluid from the inferonasal loca- tion were performed on the right eye. The retina was reattached without intraopera- tive complications. Subretinal hemor- rhage was noted at the superonasal region

of the optic disc in the early postoperative period (Fig. 5) . Fluorescein angiography disclosed peripapillary/pericentral reti- nochoroidal atrophy in both eyes (Fig. 5). The retina remained attached, but a ma- cular hole (stage 3) was found in her right eye 3 months after the operation (Fig. 6). Visual acuity in this eye was 20/400. Photopic electroretinographic record- ings showed that the b-wave amplitudes were subnormal in the right eye and nor- mal in the left eye (Fig. 3). Latency was prolonged in both eyes. The EOG was ab- normal (Arden (light peak/dark trough) ratios: 1.2, bilaterally). Automated per- imetry disclosed a severe generalized de- pression of the visual field in the right eye and ring scotoma in the left eye. No color vision defect was detected by the Ishihara test in either eye. The patient was fol- lowed for 2 years. N o change occurred in her visual status.

Discussion The prognosis of pericentral pigmentary retinopathy varies and appears related to the mode of inheritance. Traboulsi et al. ( I 9 88) reported that retinal findings and visual acuity remain stable over several years in the autosomal recessive form of pcricentral pigmentary retinopathy. Ibits ‘

autosomal dominant form, however, the course of this disease has been reportedly progressive (Grmdahl 1987). In an&er study, Noble (1989) also noted the pro- gression of atrophic maculopathy and E R G abnormality in a patient with the sporadic form of pericentral pigmentary retinopathy who had been examined over a follow-up period of 13 years.

Our first patient exhibited bull’s-eye maculopathy with bi-annular-appearing retinochoroidal atrophy in pericentral

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Fig. 5. Case 2: Left and right. Fluorescein angiograms of both eyes disclose annular-shaped reti- nochoroidal atrophy. At the right eye (left), subretinal hemorrhage is noted in the early postoper- ative period, and the retina is reattached (10 days after the operation).

Fig. 6. Case 2: Development of macular hole at the right eye (3 months after operation). Subretinal hemorrhage was resolved. White spot at the center is an artefact.

pigmentary retinopathy, as seen by fun- dus examination and fluorescein angio- graphy (Figs. 1 and 2). Visual acuity and the size of the macular hole in the left eye remained stable for 18 months’ follow-up following the initial diagnosis of full- thickness macular hole. Two factors may have been responsible for the pathogen- esis of macular hole in our patient. The first is the role of hypertensive disease, which may alter choroidal blood flow, re- sulting in a relative ischemia to the RPE and fovea (Morgan & Schatz 1986). An- other possibility may be that perifoveal atrophy, which occurs as bull’s-eye macu- lopathy, may lead to a regional vascular perfusion defect in that area. In addition, central retinal artery occlusion of the right eye (Fig. 4) in this patient might have been predisposed by long-standing car- diovascular disease.

Following conventional retinal detach- ment surgery, macular hole developed in the right eye of our second patient (Fig. 6). It has been reported that macular hole may be seen in 0.9% of cases following scleral buckling surgery for retinal de- tachment, even if the retina remains reat- tached postoperatively (Brown 1988). Foveal ischemia and vitreomacular trac- tion have been implicated in the develop- ment of macular hole in those cases. Al-

though the role of vitreomacular traction ( G a s 1988; Brown 1988) cannot be ruled out, the surgical trauma in our pa- tient may have had an effect on the devel- opment of the macular hole seen in the postoperative period, presumably caused by ischemia of the outer retinal layers arising from the impaired choroidal cir- culation and/or RPE involvement in pericentral pigmentary retinopathy. Pos- toperative subretinal hemorrhage (Fig. 5 ) noted at the superonasal region of the optic disc, far from the drainage site of subretinal fluid, appeared to be related to the involvement of the choroidal vessels in pericentral pigmentary retinopathy.

References Brown GC (1988): Macular hole following

rhegmatogenous retinal detachment repair. Arch Ophthalmol 106: 765-766.

Gass JDM (1 9 87): Annular (pericentral, circi- nate) pigmentary retinal dystrophy. In: Stereoscopic Atlas of Macular Diseases. Diagnosis and Treatment, pp 294-295, ed 3. C.V. Mosby Co., St. Louis.

Gass JDM (1988): Idiopathic senile macular hole. Arch Ophthalmol 106: 629-639.

Grmdahl J (1987): Pencentral retinal dys- trophy. Acta Ophthalmol (Copenh) 65: 344-35 I.

Jimenez-Sierra JM, Ogden T E & Van Boemel GB (19x9): Inherited retinal diseases. A di- agnostic guide, p 138. C.V. Mosby Co., St. Louis.

KeithNM, WagenerHP&BarkerNW(1939): Some different types of essential hyperten- sion: Their cause and prognosis. Am J Med Sci 197: 322.

Morgan CM & Schatz H ( I 9 86): Involutional macular thinning. A premacular hole condi- tion. Ophthalmology 93(2): 153-161.

Noble KG & Carr RE (1978): Peripapillary pigmentary retinal degeneration. Am J Oohthalmol86: 65-75.

Noble KG (1 989): Peripapillary (pericentral) pigmentary retinal degeneration. Am J Ophthalmol 108: 6x6-690.

Traboulsi EI, O’Neill JF & Maumenee IH (19 88): Autosomal recessive pericentral pigmentary retinopathy. Am J Ophthalmol 106: 551-556.

Received on August 21st, 1995.

Corresponding author: Yusuf K. Durlu, M D Beykoz sokak 10/3 Kavaklidere Ankara, Turkey. Phone: # 90-312-418-3711. Fax: # 90-3 12-425-6040.

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