Retinal branch vein occlusion associated with macular dystrophy, maternally inherited diabetes, and deafness

Abstract

Dear Editor, Maternally inherited diabetes is a peculiar form of diabetes mellitus and is often associated with deafness (MIDD). This form of diabetes, insulin-dependent or not, accounts for nearly 2-5% of diabetes mellitus cases. Mitochondrial transmission has been suggested by maternal inheritance and, recently, M I D D has been described in association with mutations in the mitochondrial D N A .~'~ An A-to-G transition at nucleotide 3243 of the mitochondrial tRNALeu(UUR) gene is the usual mtDNA abnormality found in this disease; there is, however, a report ofa large mtDN.4 deletion and M I D D .~ Mitochondria1 disorders occur in infancy or in adulthood and are characterized by a wide range of clinical ~yrnptoms.~ Pigmentary retinopathy has been often reported in chronic progressive external ophthalmoplegia (CPEO) and in Kearns-Sayre syndrome (KSS) in association with m t D N A deletions and is a diagnostic requirement in KSS.' Similarly, pigmentary retinopathy with macular involvement has been described in association with the M E L A S syndrome related to the 3243 tRNALeu(UUR) mutation.6 Recently, Massin et al.7 reported on the association of macular dystrophy and M I D D in the presence of the 3243 mtDN.4 mutation. Here, we report one unusual case of macular dystrophy with M I D D and an associated retinal branch vein occlusion (BV 0).

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

“…A variety of conditions have been described in association with MIDD, such as placental accreta [93], retinal branch vein occlusion [125], nail‐patella syndrome [126], Barth's syndrome [127], pelvic lymphocyst infection [128], urinary retention [129–131], polymicrogyria [132] and premature greying [3]. A causative role for m.3243A>G mutation is difficult to define in these unusual, and probably coincidental, features.…”