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Deze abstract is toegekend aan sessie SBO-BOG Free papers: Genetica/Génétique

Titel

Maternally inherited diabetes and deafness associated with ptosis

Doel	To report ptosis as an associated finding in two patients with maternally inherited diabetes and deafness (MIDD).
Methodes	Two female patients with MIDD are described. Both carry the mitochondrial (mt) point mutation A3243G tRNALeu. A detailed ophthalmological examination was performed, including Levator muscle function, vertical fissure height and upper lid crease position measurements, and extensive imaging and functional evaluation.
Resultaten	Two patients, respectively 41 and 47 years old, were referred to us. The first patient complained of a slowly progressive unilateral ptosis. Vertical fissure height was 5 mm for the right eye (RE) and 8 mm for the left eye (LE). Levator muscle function was normal in 2004 and decreased to 11 mm and 12 mm for the RE and LE respectively, suggestive of a myogenic ptosis. Preoperative fundus examination revealed a macular pattern dystrophy, and a diagnosis of MIDD was made. The ptosis of the RE was corrected using levator resection with reinsertion. Three years later, a bilateral ptosis recurred. The second MIDD patient was referred for bilateral pigment alterations at the posterior pole. A bilateral ptosis was noted, which was myogenic in origin. Gradually the ptosis increased over a 3-year period.
Conclusie	MIDD has pleomorphic manifestations, and ptosis should be added to the list of associated clinical features. Early identification of MIDD is important as it facilitates early detection, prevention and treatment of its associated disorders in both patients and their maternal relatives.

Auteur 1

Naam	ROBBERECHT
Initialen	KR
Instituut	Dept of Ophthalmol, Ghent Univ Hosp
Stad	Ghent

Auteur 2

Naam	DECOCK
Initialen	CE
Instituut	Dept of Ophthalmol, Ghent Univ Hosp
Stad	Ghent

Auteur 3

Naam	SENECA
Initialen	S
Instituut	Ctr Med Gen, Univ Hosp Brussels
Stad	Brussels

Auteur 4

Naam	DE BLEECKER
Initialen	J
Instituut	Dept of Neurol, Ghent Univ Hosp
Stad	Ghent

Auteur 5

Naam	LEROY
Initialen	BP
Instituut	Dept of Ophthalmol & Ctr Med Genet, Ghent Univ Hosp
Stad	Ghent