Abstract
Abstract: :
Purpose: To present a case report of a pair of 35 month old twins with suspected North Carolina Macular Dystrophy (NCMD) who represent a unique presentation of NCMD. Methods: The two subjects underwent a complete, age appropriate neuro–ophthalmic examination. Results: One twin had a visual acuity of 20/40 OU with the picture chart at near, was orthotropic, and did not manifest a rAPD. His fundus showed bilaterally symmetric central macular pigmentary changes consistent with Grade 2 North Carolina Macular Dystrophy. The second twin had been noted to have "crossed eyes" by his mother at age 2 years. Visual acuity at near was 20/200 OD and 20/40 OS; he had 14 PD of right ET at distance. Examination of his right fundus revealed macular pigmentary changes consistent with grade 2 NCMD. Most notably, his left fundus was normal. Conclusions: NCMD has been typified by bilaterally symmetric fundus findings. Ours may be the first published case with such radically asymmetric fundus lesions. This case serves to underscore the wide range of phenotypic presentations of the inherited trait.
Keywords: retinal degenerations: hereditary • degenerations/dystrophies • retina