Diffuse bear-track retina: profound, bilateral, grouped congenital pigmentation of the retinal pigment epithelium in
Oliver R Marmoy1, Charlotte Blackwell2, Sarah Cornelius2
1Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, United Kingdom; Manchester Metropolitan University, Manchester, United Kingdom; UCL-GOSH Institute of Child Health, University College London, London, United Kingdom.
Insights
Congenital hypertrophy of the retinal pigment epithelium, or "bear tracks," are benign eye lesions. This case highlights a 2-month-old infant with extensive lesions but normal vision and development.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Grouped congenital hypertrophy of the retinal pigment epithelium (CHRPE) presents as pigmented retinal lesions.
- These "bear tracks" are typically benign but can mimic serious conditions.
- Early detection is crucial to rule out retinal dystrophies.
Observation:
- A 2-month-old infant presented with extensive bilateral "bear track" lesions.
- The infant exhibited a poor red reflex upon initial examination.
- The lesions were noted to be widespread across the retina.
Findings:
- Electrodiagnostic testing revealed normal retinal function.
- Genetic analysis did not identify any causative mutations.
- The infant demonstrated normal visual behavior for age.
Implications:
- This case underscores that extensive CHRPE does not always indicate a severe retinal dystrophy.
- Normal electrodiagnostic and genetic findings support a benign diagnosis in this infant.
- Ophthalmologists should consider CHRPE as a distinct entity from retinal dystrophies.
Abstract:
Grouped congenital hypertrophy of the retinal pigment epithelium is a conspicuous ocular anomaly wherein highly pigmented, demarcated but flat retinal lesions arise from the retinal pigment epithelium. These lesions ("bear tracks") typically increase in size as they approach the retinal periphery. The discovery of pigmentary lesions in a young infant with a poor red reflex warrants urgent ophthalmological and electrodiagnostic review to exclude serious diagnoses, including an early-onset severe retinal dystrophy. We present the case of a 2-month-old boy with marked bear-tracks over the entirety of each retina, but with normal electrodiagnostic findings, genetics, and visual behavior.
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