Congenital grouped albinotic spots of the retinal pigment epithelium-a case report

To describe the clinical and multimodal imaging characteristics of congenital grouped albinotic spots (CGAS) and to explore their functional implications using full-field electroretinography (ERG).

Two patients with incidentally detected CGAS underwent comprehensive ophthalmic examination, including best-corrected visual acuity, refraction, dilated fundus evaluation, swept-source optical coherence tomography (SSOCT), fundus autofluorescence (FAF) imaging, and full-field ERG. Longitudinal follow-up was available for one case over 7 years. Clinical and imaging findings were qualitatively compared with previously reported CGAS features and with differential diagnoses of flecked retina disorders.

Both patients demonstrated numerous, bilaterally symmetrical, flat hypopigmented lesions that were small and round at the posterior pole, sparing the fovea and larger, linear, and radially oriented in the periphery. FAF showed striking hyperautofluorescence corresponding to the hypopigmented patches. SSOCT in both cases showed preserved foveal contour, normal retinal architecture, and intact RPE-photoreceptor complex. Visual acuity was 20/20 in both patients at last examination, after refractive correction. ERG responses were largely within normal reference limits, although each case exhibited minimally reduced photopic responses.

CGAS represents a benign, nonprogressive RPE abnormality with characteristic peripheral hypopigmented spots that are paradoxically hyperautofluorescent on FAF and associated with preserved retinal structure and good visual function. FAF and OCT are valuable, non-invasive tools for confirming the diagnosis, delineating lesion extent, and distinguishing CGAS from inherited flecked-retina dystrophies. Additional case series and genetic studies are warranted to clarify underlying mechanisms and potential associations.