A CASE OF HYPOTRICHOSIS WITH JUVENILE MACULAR DYSTROPHY. Issue Volume 9:Issues 2(2015:Spring) (2015)

• Record Type: Journal Article
• Authors: Mason, John O.; Patel, Shyam A.
• Is Part Of: Retinal cases & brief reports. Volume 9:Issues 2(2015:Spring)
• Publication Date: 2015
• Subjects: hypotrichosis with juvenile macular dystrophy -- juvenile macular degeneration -- juvenile retinal dystrophy -- macular degeneration -- retinal degeneration -- cone rod dystrophy; Retina -- Diseases -- Periodicals; Retina -- Periodicals; Retinal Diseases -- Periodicals; Retina -- Case Reports; Retinal Diseases -- Case Reports; 617.7
• DOI: 10.1097/ICB.0000000000000127
• Languages: English
• ISSNs: 1935-1089

Abstract

Abstract : 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. Abstract : A case report of a 6-year-old boy who developed bull's eye maculopathy bilaterally. A workup for Stargardt disease was negative. Review of systems was positive for poor hair growth. Mutation in the cadherin-3 protein was found, which is linked to hypotrichosis with juvenile macular dystrophy.