Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and cafe au lait spots.

ABSTRACT:

Purpose

To describe the finding of circularly grouped hypomelanotic spots in the central macula of a patient with syndromic characteristics.

Methods

Case report of a patient with albinotic spots grouped within the macula, café au lait spots, and left-sided hemihypertrophy.

Results

A 15-year-old boy presented with hypomelanotic spots which were hyperautofluorescent on fundus autofluorescence imaging with no disruption of the retinal laminae or photoreceptor inner and outer segment (IS/OS) junction on spectral domain optical coherence tomography. His developmental history included hemihypertrophy, café au lait spots over his axilla and extremities, and surgically corrected left-sided cryptorchidism. Other ocular history included resolved convergence insufficiency and red-green color blindness.

Conclusions

It is essential to recognize that circularly grouped hypomelanotic spots are a benign condition. The location and arrangement of the hypomelanotic spots were atypical for congenital grouped albinotic spots of the retinal pigment epithelium (CGAS) as they were grouped within the macula in addition to a more characteristic linear "bear track" formation in the periphery. To the authors' knowledge, this is the first report of CGAS present in a patient with hemihypertrophy, café au lait spots, and cryptorchidism and may represent a novel syndromic association.

SUBMITTER: White EC 

PROVIDER: S-EPMC9119418 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature