Purpose: To report a very rare case of hypotrichosis with juvenile macular dystrophy.
Methods: Clinical case report and literature review.
Results: A 6-year-old boy was referred to us for a retinal evaluation after retinal defects were found bilaterally by his optometrist. His ocular symptoms included decreased visual acuity and light sensitivity. His ocular history was unremarkable. Review of systems was positive for hypotrichosis. Fundus examination revealed bull's eye maculopathy bilaterally. The patient was found to have a cadherin-3 genetic defect, which is associated with hypotrichosis with juvenile macular dystrophy. In follow-up, fundus autofluorescence revealed severe hypoautofluorescence with severe retinal pigment epithelium loss, and spectral domain optical coherence tomography showed evidence of retinal pigment epithelium, photoreceptor, and inner segment/outer segment disruption bilaterally.
Conclusion: Hypotrichosis with juvenile macular dystrophy is a very rare genetic disorder that should be in the differential for macular degeneration during the first 4 decades of life. A detailed review of systems should always be performed on these patients.