Familial Congenital Grouped Albinotic Retinal Pigment Epithelial Spots

Congenital grouped albinotic retinal pigment epithelial spots (CGARPES), or polar bear tracks, is a rare anomaly characterized by multiple grouped, white, variably sized, albinotic spots. They generally involve the peripheral retina, similar to that of bear track grouped pigmentation.¹ Usually the macula is spared, and the spots may occur in one or both eyes. The lesions seem to be stable, and visual acuity, visual fields, color examination, dark adaptation, and electrophysiologic findings are normal. There is only 1 report of a decrease in visual acuity in this entity.^2(pp614-615) Fluorescein angiography revealed a variable pattern related to the choroidal fluorescence seen through these lesions that was considered sporadic and rare in frequency. In this article, we describe 4 cases that occurred in a Brazilian family of Italian descent. This is the first reported instance of familial CGARPES.

A 19-year-old woman was referred for evaluation after her general ophthalmologist noted areas of retinal abnormality on ophthalmoscopy after a routine refraction. She had occasional headaches but no specific ocular symptoms, and she was in excellent general health. Visual acuity was 20/20 in both eyes with −0.50 cylinder correction in the left eye. Slitlamp examination of the anterior segments and vitreous cavity was unremarkable. Intraocular pressures were normal. Funduscopy of both eyes revealed multiple white and sometimes yellow flecks of variable size and configuration affecting all parts of the retina (periphery, equator, posterior pole, and fovea) (Figure 1). The size of the flecks was highly variable, from the diameter of one vessel to 4 times the diameter of the optic nerve but the flecks had a consistent color pattern: in the smaller lesions, the color was more homogeneous, and in the larger lesions, it was concentrated at the edge of the flecks (Figure 1). Fluorescein angiography showed a normal choroidal and retinal vascular perfusion. The arterial phase revealed a transmitted hyperfluorescent lesion (a window defect of the retinal pigment epithelium) that corresponded to the lesions seen during the ophthalmic examination. No intraretinal fluid was seen during the late phase of the angiogram (Figure 1).

Color vision tests with the Farnsworth dichotomous (D-15) test, electrooculogram, electroretinogram, and visual field were normal. Follow-up 1 and 5 years later showed the same ocular fundus findings without progression of the flecks, and the headaches had disappeared. There was no history of consanguineous marriage. When other members of the family were examined, this unusual fundus was observed in her 2 sisters and her mother (Figure 2).

A 39-year-old woman, the mother of the patient described in case 1, described no ocular or systemic symptoms. Her visual acuity was 20/20 in both eyes, with normal visual fields and no clinical night blindness. Results of anterior biomicroscopy examination, color testing (Farnsworth dichotomous D-15), electroretinogram, and electrooculogram were normal. Color fundus photographs showed deep lesions of the fundus, similar to those seen in case 1. The same color pattern was seen: more homogenous color in the smaller lesions, and color concentrated at the edges of the larger lesions (Figure 3). The ocular coherence tomographic findings of a small fleck showed no defect in the inner or outer retina.

This 16-year-old girl is the sister of the patient described in case 1. Her corrected visual acuities were 20/20 in both eyes. Her visual fields were normal, and she had no night blindness. Retinal flecks were present in the posterior pole and all fundus quadrants up to the periphery. However, the lesions were smaller than those seen in either case 1 or case 2 (Figure 4).

A 12-year-old girl, the youngest sister of cases 1 and 3, was also healthy, with 20/20 visual acuity and normal visual field without clinical night blindness. Both eyes were affected with fleck lesions, comparable in shape and distribution with the flecks seen in the eyes of her 2 sisters and mother. As in her 16-year-old sister (case 3), the fleck lesions were smaller but were distributed from the macula up to the periphery in all quadrants.

The retinal condition in the patients described in our article is compatible and consistent with a diagnosis of congenital grouped retinal pigment epithelial spots. The 4 cases were characterized by bilateral, multiple, deeply situated, white-yellow fleck lesions with a panretinal distribution (fovea, posterior pole, peripapillary, equator, and periphery). However, the lesions in original reports of CGARPES tended to be white, spare the macula, and uniocular.^1,2 On the other hand, our and more recent articles^3,4 found those spots to be bilateral, affecting the macula and present with some yellow lesions, particularly in the posterior pole area. We hypothesize that yellow macular lesions could be explained by the increased amount of xanthophyll in these areas compared with the periphery, where the spots are white. Like in all reports of CGARPES, the lesions vary in size and configuration; however, we believe there is a color pattern: larger lesions tend to have heterogeneous coloration between the edge and the central part; smaller lesions tend to be more homogeneous.

According to Gass,² the spots may represent focal thickening of the retinal pigment epithelium that is filled with a white material that may be diffusely distributed or more concentrated in the periphery of the lesion. Histologic findings have not been reported so far to clarify the true composition of this material.

Fluorescein angiography showed hyperfluorescent spots with the initial phase of the angiogram (window defect) correlating exactly with the lesions observed in the ocular fundus. This finding is well documented in previous articles.^1,2,4 The differential diagnosis of CGAREPS includes fundus flavimaculatus, fundus albipunctatus, and familial drusen. Gass² recognized that CGAREPS is identical to the entity reported by Kandori and colleagues,⁵ sometimes referred to as the flecked retina of Kandori.

In contrast to previous studies that found this entity to be sporadic, we found an obvious familial component in our cases. The hereditary pattern in the presently described family is most likely an autosomal dominant form of the disease since only the mother and 3 daughters present with the unusual fundus. However, because only 2 generations were analyzed, the pattern is also consistent with autosomal recessive, X-linked dominant, digenic, or mitochondrial inheritance. Because this is the first report of CGARPES in more than a single family member, we believe the appropriate name for this unique presentation is familial congenital grouped albinotic retinal pigment epithelial spots.

Correspondence: Dr L. A. Arana, Doheny Eye Institute, 1450 San Pablo St, Ste 100, Los Angeles, CA 90033 (luisarana79@hotmail.com).

Submitted for Publication: January 11, 2010; final revision received April 25, 2010; accepted April 30, 2010.

Financial Disclosure: None reported.