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Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group
P Massin1, M Virally-Monod, B Vialettes
1Department of Ophthalmology, Hôpital Lariboisière, Université Paris 7, France. p.massin@lrb.ap-hop-paris.fr
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.
Design:
Prospective cohort study.
Participants:
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.
Main Outcome Measures:
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.
Conclusion:
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.
Insights
Macular pattern dystrophy (MPD) is highly prevalent in maternally inherited diabetes and deafness (MIDD), a mitochondrial DNA disorder. Early detection of MPD can aid in diagnosing MIDD and guiding specific treatments.
Area of Science:
- Ophthalmology
- Genetics
- Endocrinology
Background:
- Maternally inherited diabetes and deafness (MIDD) is a subtype of diabetes mellitus caused by a mitochondrial DNA mutation (m.3243A>G).
- Macular pattern dystrophy (MPD) is an ocular condition with characteristic pigmentary changes in the macula.
- The association between MIDD and MPD requires further investigation.
Observation:
- This prospective cohort study evaluated 46 patients from 29 families with the m.3243A>G mitochondrial DNA mutation.
- Ophthalmologic examinations and fundus photography were performed on all participants.
- The prevalence and characteristics of MPD and diabetic retinopathy (DR) were assessed.
Findings:
- Eighty-five-seven percent (85.7%) of MIDD patients (35/35) exhibited bilateral MPD, with linear pigmentation around the macula and optic disc.
- Visual acuity remained good (≥20/25) in most affected patients (24/30).
- The prevalence of DR was not significantly different between MIDD patients (6%) and type-2 diabetes patients (15%).
Implications:
- The high prevalence of MPD in MIDD suggests a strong association between these conditions.
- MPD detection may serve as a diagnostic indicator for MIDD.
- Identifying MIDD early allows for the potential implementation of targeted therapeutic strategies.