Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group.
OBJECTIVE
To evaluate the prevalence of macular pattern dystrophy (MPD) in maternally inherited diabetes and deafness (MIDD), a new subtype of diabetes mellitus that cosegregates with a mutation of mitochondrial DNA (i.e., the substitution of guanine for adenine at position 3243 of leucine transfer RNA) and to report the clinical characteristics of MPD.


METHODS
Prospective cohort study.


METHODS
Forty-six patients from 29 families with an adenine-to-guanine mutation of mitochondrial DNA were recruited from a French collaborative multicenter study. Thirty-five patients had MIDD, 8 were asymptomatic children of MIDD patients, and 3 had MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes). The 33 MIDD patients with diabetes were matched for diabetes duration and gender with 33 patients with "common" type-2 diabetes to compare the prevalence of diabetic retinopathy (DR) in both series.


METHODS
All patients had a full ophthalmologic examination and fundus photographs.


METHODS
The presence and severity of MPD and DR were assessed in each patient.


RESULTS
Thirty MIDD patients (85.7%) of 35 exhibited bilateral MPD characterized by linear pigmentation surrounding the macula and optic disc. In 24 of these 30 patients, visual acuity was 20/25 or more in both eyes. The prevalence of DR was 6% in MIDD patients with diabetes versus 15% for patients with common type-2 diabetes (a difference that was not significant, P = 0.23). The fundus of each of the eight asymptomatic children was normal. MPD was present in one of the three cases of MELAS.


CONCLUSIONS
The prevalence of MPD in MIDD is high. Its detection may be helpful for the diagnosis of this new subtype of diabetes, for which specific treatments may be proposed.
Massin
P
P
Department of Ophthalmology, Hôpital Lariboisière, Université Paris 7, France. p.massin@lrb.ap-hop-paris.fr
Virally-Monod
M
M
Vialettes
B
B
Paques
M
M
Gin
H
H
Porokhov
B
B
Caillat-Zucman
S
S
Froguel
P
P
Paquis-Fluckinger
V
V
Gaudric
A
A
Guillausseau
P J
PJ
D000328:Adult; D000368:Aged; D015331:Cohort Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D015995:Prevalence; D011446:Prospective Studies; D012356:RNA, Transfer, Leu / Q000235:genetics*; D014792:Visual Acuity
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu