Ophthalmology Dx: Tracking the Cause of White Retinal Spots

Slideshow

  • Figure 1. This ultra-widefield fundus photograph shows diffuse hypopigmented spots superiorly, superior temporally, and temporally without elevation in a patient’s right eye.

  • Figure 2. This spectral domain optical coherence tomography of the patient’s right eye demonstrates outer retinal disruptions corresponding to the spots, with some inner retinal atrophy.

A 10-year-old female patient presented for retinal evaluation of floaters she’d been experiencing for the prior 6 months. She denied flashes of light or changes in the number or appearance of floaters. Her medical history was unremarkable and her family history was negative for inherited retinal disorders.

On examination, her Snellen visual acuity was 20/20 in both eyes. Her anterior segment examination was normal. Dilated fundus exam of her right eye showed diffuse subretinal hypopigmented spots superiorly, superior temporally, and temporally without elevation. Left fundus exam was unremarkable.

Optical coherence tomography (OCT) of the right eye demonstrated outer retinal disruptions corresponding to the spots, with some inner retinal atrophy.

The congenital grouped albinotic spots (CGAS), also known as ‘polar bear tracks,’ is a rare retinal condition of unknown etiology. It is characterized by multiple grouped, flat, variably-sized, well-circumscribed, white, albinotic retinal spots.1 This condition is usually unilateral and involves...

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The congenital grouped albinotic spots (CGAS), also known as ‘polar bear tracks,’ is a rare retinal condition of unknown etiology. It is characterized by multiple grouped, flat, variably-sized, well-circumscribed, white, albinotic retinal spots.1 This condition is usually unilateral and involves the peripheral retina.

Diagnosis of CGAS is clinical, based on fundoscopic appearance. Fundus autofluorescence reveals hypoautofluorescent spots mimicking animal footprints. It was suggested that these spots may represent focal thickening of the retinal pigment epithelium with deposition of a precursor of melanin.1 Recent investigations with optical coherence tomography (OCT) and optical coherence tomography angiography (OCT-A) revealed a disruption in the outer retinal layers as well as material deposition at the level of the RPE which remains largely normal.2 Nonetheless, the pathophysiology of CGAS remain unknown and the nature of the retinal lesions has not been investigated histologically. If fluorescein angiography is performed, findings include early and stable hyperfluorescence of the spots without leakage.3 Differential diagnosis includes fundus flavimaculatus, fundus albipunctatus, and familial drusen.

Retinal lesions in CGAS remain stable. A 2020  report details a case of CGAS with unchanged OCT imaging features after 8 years of follow-up.2 This benign condition is nonprogressive without impact on visual acuity, as in our patient who had 20/20 visual acuity bilaterally. Therefore, no treatment is required.

Case submitted by Sandra Hoyek, MD. Clinical editing by Nimesh A. Patel, MD.

Dr. Hoyek is a postdoctoral research fellow in Ophthalmology at Massachusetts Eye and Ear and Harvard Medical School, Boston.

Dr. Patel is an Instructor of Ophthalmology at Massachusetts Eye and Ear and Harvard Medical School and Director of Pediatric Retina at Boston Children’s Hospital, Boston.

References

1. Gass JD. Focal congenital anomalies of the retinal pigment epithelium. Eye (Lond). 1989;3 (Pt 1):1-18. doi:10.1038/eye.1989.2

2. Marques JP, Neves ER, Farinha C, Silva R. Congenital grouped albinotic spots: new insights on the pathophysiology based on multimodal retinal imaging.. Ophthalmic Surg Lasers Imaging Retina. 2020;51(4):236-238. doi:10.3928/23258160-20200326-05

3. Kim DY, Hwang JC, Moore AT, Bird AC, Tsang SH. Fundus autofluorescence and optical coherence tomography of congenital grouped albinotic spots. Retina. 2010;30(8):1217-1222. doi:10.1097/IAE.0b013e3181cea5a5