METHODS: Case Report.
RESULTS: 22-year-old female patient presented with a longstanding history of reduced visual acuity in her right eye. She has generalized redundant skin, downslanting of palpebral fissures, and long philtrum. Ophthalmic examination showed ptosis in her right eye and visual acuity of 20/2000 in the right eye and 20/30p in the left eye. Funduscopic examination showed a round macular scar lesion in the right eye macula and a chorioretinal scar superonasally in the left eye. Multimodal imaging showed macular atrophy in the right eye with speckled hypoautoflorescence of the described lesions. Genetic testing showed a homozygous splice acceptor variant of the ATP6V0A2 gene.
CONCLUSIONS: The natural history of the presented pigmentary lesions is not known and further follow up is needed to assess any progressive nature. Our case adds to the variability of ophthalmic manifestations reported in ARCL2A and therefore to the importance of regular ophthalmic surveillance in patients with Cutis Laxa.